Bracket shaped end part of the innermost hand bones

Bracket epiphyses of the proximal phalanges of the hand

An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [ORCID:0000-0001-7941-2961]


Absent end part of the innermost hand bones

Absent epiphyses of the proximal phalanges of the hand


Triangular end part of the middle hand bones

Triangular epiphyses of the middle phalanges of the hand


Speckled calcifications in the end part of the middle hand bones

Stippling of the epiphyses of the middle phalanges of the hand


Small epiphyses of the middle phalanges of the hand


Pseudoepiphyses of the middle phalanges of the hand

A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. []


Increased bone density of end part of the middle hand bones

Ivory epiphyses of the middle phalanges of the hand

Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]


Irregular epiphyses of the middle phalanges of the hand


Fragmentation of the end part of the middle hand bones

Fragmentation of the epiphyses of the middle phalanges of the hand

Fragmented appearance of the epiphyses of the middle phalanges of the hand. [HPO:curators]


Enlarged end part of the middle hand bones

Enlarged epiphyses of the middle phalanges of the hand


Bracket shaped end part of the middle hand bones

Bracket epiphyses of the middle phalanges of the hand

An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]


Absent end part of the middle hand bones

Absent epiphyses of the middle phalanges of the hand


Triangular end part of the outermost hand bones

Triangular epiphyses of the distal phalanges of the hand


Speckled calcifications in the end part of the outermost hand bones

Stippling of the epiphyses of the distal phalanges of the hand


Small end part of the outermost hand bones

Small epiphyses of the distal phalanges of the hand


Pseudoepiphyses of the distal phalanges of the hand

A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. []


Irregular end part of the outermost hand bones

Irregular epiphyses of the distal phalanges of the hand


Fragmentation of the end part of the outermost hand bones

Fragmentation of the epiphyses of the distal phalanges of the hand


Enlarged end part of the outermost hand bones

Enlarged epiphyses of the distal phalanges of the hand


Cone-shaped end part of the outermost hand bones

Cone-shaped epiphyses of the distal phalanges of the hand


Bracket shaped end part of the outermost hand bones

Bracket epiphyses of the distal phalanges of the hand

An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]


Absent end part of the outermost hand bones

Absent epiphyses of the distal phalanges of the hand


Abnormality of the end part of the innermost hand bones

Abnormality of the epiphyses of the proximal phalanges of the hand


Abnormality of the end part of the middle hand bones

Abnormality of the epiphyses of the middle phalanges of the hand


Abnormality of the end part of the outermost bone of finger

Abnormality of the epiphyses of the distal phalanx of finger

Any anomaly of distal epiphysis of phalanx of finger. [HPO:probinson]


The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. [HPO:curators]


Abnormality of the end part of the long bone of little finger

Abnormality of the end part of the long bone of pinky finger

Abnormality of the end part of the long bone of pinkie finger

Abnormality of the epiphysis of the 5th metacarpal

Any abnormality of the epiphysis of the fifth metacarpal bone. [HPO:curators]


The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. [HPO:curators]


Abnormality of the end part of the 4th long bone of hand

Abnormality of the epiphysis of the 4th metacarpal

Any abnormality of the epiphysis of the 4th metacarpal bone. [HPO:curators]


The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. [HPO:curators]


Abnormality of the end part of the 3rd long bone of hand

Abnormality of the epiphysis of the 3rd metacarpal

Any abnormality of the epiphysis of the third metacarpal bone. [HPO:curators]


Abnormality of the end part of the 2nd long bone of hand

Abnormality of the epiphysis of the 2nd metacarpal

Any abnormality of the epiphysis of the second metacarpal bone. [HPO:curators]


A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies. [HPO:curators]


Contractures of the metatarsophalangeal joint of the hallux

The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively. [HPO:probinson]


Contracture of the interphalangeal joint of the hallux

The interphalangeal joint of the big toe cannot be straightened actively or passively. [HPO:probinson]


Contracture of the tarsometatarsal joint of the hallux

Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints. [HPO:probinson]


Triangular shaped proximal phalanges of the toes


Symphalangism affecting the proximal phalanges of the toes


An increase in width of one ore more proximal toe phalanges. [HPO:probinson]


Triangular shaped middle phalanges of the toes


Symphalangism affecting the middle phalanges of the toes


Osteolytic defects of the middle phalanges of the toes


Absent/underdeveloped middle bones of toe

Aplasia/Hypoplasia of the middle phalanges of the toes


Triangular shaped outermost bone of the toes

Triangular shaped distal phalanges of the toes


Symphalangism affecting the distal phalanges of the toes


Osteolytic defects of the distal phalanges of the toes


Wide outermost bone of the toe
Broad outermost bone of the toe

Increased width of the distal phalanx of toe of one or more toes. [HPO:probinson]


Abnormality of the middle phalanges of the toes


Abnormality of the outermost bone of the toes

Abnormality of the distal phalanges of the toes


Symphalangism affecting the phalanges of the toes


Osteolytic defects of the phalanges of the toes


Increased width of phalanx of one or more toes. [HPO:probinson]


Absent/small toe bones
Absent/underdeveloped toe bones

Aplasia/Hypoplasia of the phalanges of the toes


Increased bone density of end part of the toes


Fragmentation of the end part of the toe bones

Fragmentation of the epiphyses of the toes


Bracket shaped end part of the toe bones


Absence of the epiphyses of the phalanges of the toes. [HPO:sdoelken]


Abnormality of the long bones of the toes

Abnormality of the phalanges of the toes


Abnormality of the end part of the toe bones

Abnormality of the epiphyses of the toes


Triangular end part of the 1st long bone of foot

Triangular epiphysis of the 1st metatarsal


Speckled calcifications in the end part of the 1st long bone of foot

Stippling of the epiphysis of the 1st metatarsal


Small end part of the 1st long bone of foot


Increased bone density of end part of the 1st long bone of foot

The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]


Irregular end part of the 1st long bone of foot

Irregular epiphysis of the 1st metatarsal


Fragmentation of the end part of the 1st long bone of foot

Fragmentation of the epiphysis of the 1st metatarsal


Enlarged end part of the 1st long bone of foot

Enlarged epiphysis of the 1st metatarsal


Cone-shaped end part of the 1st long bone of foot

Cone-shaped epiphysis of the 1st metatarsal

A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot. [HPO:curators]


Bracket shaped end part of 1st long bone of foot

The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form. [HPO:probinson]


Absent end part of the 1st long bone of foot

Failure to form (agenesis) of the epiphysis of the 1st metatarsal. [HPO:probinson]


Triangular end part of the outermost bone of the big toe

Triangular epiphysis of the distal phalanx of the hallux


Speckled calcifications in the end part of the outermost bone of the big toe

Stippling of the epiphysis of the distal phalanx of the hallux

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux. [HPO:curators]


Small end part of the outermost bone of the big toe

Small epiphysis of the distal phalanx of the hallux


Pseudoepiphysis of the distal phalanx of the hallux


Increased bone density of end part of the outermost bone of the big toe

Ivory epiphysis of the distal phalanx of the hallux


Irregular end part of the outermost bone of the big toe

Irregular epiphysis of the distal phalanx of the hallux


Fragmentation of the end part of the outermost bone of the big toe

Fragmentation of the epiphysis of the distal phalanx of the hallux


Enlarged end part of the outermost bone of the big toe

Enlarged epiphysis of the distal phalanx of the hallux


Cone-shaped end part of the outermost bone of the big toe

Cone-shaped epiphysis of the distal phalanx of the hallux


Bracket shaped end part of the outermost bone of big toe

Bracket epiphysis of the distal phalanx of the hallux

The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form. [HPO:probinson]


Absent end part of the outermost bone of the big toe

Absent epiphysis of the distal phalanx of the hallux

Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux. [HPO:probinson]


Triangular end part of the innermost bone of the big toe

Triangular epiphysis of the proximal phalanx of the hallux


Speckled calcifications in the end part of the innermost bone of the big toe

Stippling of the epiphysis of the proximal phalanx of the hallux

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux. [HPO:curators]


Small end part of the innermost bone of the big toe

Small epiphysis of the proximal phalanx of the hallux


Pseudoepiphysis of the proximal phalanx of the hallux

A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe. []


Increased bone density of end part of the innermost bone of the big toe

Ivory epiphysis of the proximal phalanx of the hallux


Irregular end part of the innermost bone of the big toe

Irregular epiphysis of the proximal phalanx of the hallux


Fragmentation of the end part of the innermost bone of the big toe

Fragmentation of the epiphysis of the proximal phalanx of the hallux


Enlarged end part of the innermost bone of the big toe

Enlarged epiphysis of the proximal phalanx of the hallux


Cone-shaped end part of the innermost bone of the big toe

Cone-shaped epiphysis of the proximal phalanx of the hallux


Bracket shaped end part of the innermost bone of big toe

Bracket epiphysis of the proximal phalanx of the hallux

The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form. [HPO:probinson]


Absent end part of the innermost bone of the big toe

Absent epiphysis of the proximal phalanx of the hallux

Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux. [HPO:probinson]


Abnormality of the end part of the innermost bone of the big toe

Abnormality of the epiphysis of the proximal phalanx of the hallux

In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux. [HPO:curators]


Abnormality of the end part of the 1st long bone of foot

Abnormality of the epiphysis of the 1st metatarsal

In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone. [HPO:curators]


Abnormality of the end part of the outermost bone of the big toe bone

Abnormality of the epiphysis of the distal phalanx of the hallux


Speckled calcifications in the end part of the big toe bone

Stippling of the epiphyses of the hallux

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux. [HPO:curators]


Increased bone density of end part of the big toe bone


Fragmentation of the end part of the big toe bone

Fragmentation of the epiphyses of the hallux


Cone-shaped end part of the big toe bone


Aplasia of the proximal phalanx of the hallux


Aplasia of the distal phalanx of the hallux


Partial duplication of the 1st long bone of foot

Partial duplication of the 1st metatarsal

A developmental defect consisting in the duplication of part of the first metatarsal bone. [HPO:probinson]


Complete duplication of the 1st long bone of foot

Complete duplication of the 1st metatarsal

A developmental defect consisting in the complete duplication of the first metatarsal bone. [HPO:probinson]


Complete duplication of the outermost bone of the big toe

Complete duplication of the distal phalanx of the hallux


Partial duplication of the innermost bone of big toe

Partial duplication of the proximal phalanx of the hallux

Partial duplication of the proximal phalanx of big toe. [HPO:sdoelken]


Complete duplication of the innermost bone of big toe

Complete duplication of the proximal phalanx of the hallux

Complete duplication of the proximal phalanx of big toe. [HPO:sdoelken]


Duplication of the innermost bone of big toe

Duplication of the proximal phalanx of the hallux

Partial or complete duplication of the proximal phalanx of big toe. [HPO:sdoelken]


Triangular shaped innermost bone of big toe

Triangular shaped proximal phalanx of the hallux


Symphalangism affecting the proximal phalanx of the hallux


Uneven increase in bone density in the innermost bone of the big toe

Patchy sclerosis of the proximal phalanx of the hallux


Osteolytic defects of the proximal phalanx of the hallux


A deviation from the normal straight form of the proximal phalanx of the big toe. [HPO:probinson]


Bullet-shaped innermost bone of the big toe

Bullet-shaped proximal phalanx of the hallux

An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]


Absent/underdeveloped innermost big toe bone

Aplasia/Hypoplasia of the proximal phalanx of the hallux


Triangular shaped outermost bone of the big toe

Triangular shaped distal phalanx of the hallux


Symphalangism affecting the distal phalanx of the hallux


Uneven increase in bone density in the outermost bone of big toe

Patchy sclerosis of the distal phalanx of the hallux


Osteolytic defects of the distal phalanx of the hallux


A deviation from the normal straight form of the distal phalanx of the big toe. [HPO:probinson]


Bullet-shaped distal phalanx of the hallux

An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]


Wide outermost bone of big toe
Broad outermost bone of big toe

An increase in width of the distal phalanx of the big toe. [HPO:probinson]


Absent/underdeveloped outermost big toe bone

Aplasia/Hypoplasia of the distal phalanx of the hallux


Fusion involving the 1st long bone of foot


Uneven increase in bone density of the 1st long bone of foot


Osteolytic defects of the 1st metatarsal

Dissolution or degeneration of bone tissue of the first metatarsal. [HPO:probinson]


A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone. [HPO:probinson]


An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction. [HPO:probinson]


Absent/underdeveloped 1st long bone of foot

Aplasia/hypoplasia of the 1st metatarsal

Absence or underdevelopment of the first metatarsal bone. [HPO:probinson]


Triangular shaped phalanges of the hallux


Osteolytic defects of the phalanges of the hallux


Absent/small big toe bone
Absent/underdeveloped big toe bone

Aplasia/Hypoplasia of the phalanges of the hallux


Abnormality of the phalanges of the hallux


Abnormality of the end part of the big toe bone

Abnormality of the epiphyses of the hallux


Abnormality of the 1st long bone of foot

Abnormality of the first metatarsal bone

An anomaly of the first metatarsal bone. [HPO:probinson]


Abnormality of the outermost bone of the big toe

Abnormality of the distal phalanx of the hallux


Abnormality of the proximal phalanx of the hallux

Abnormal morphology of the proximal phalanx of the hallux

An abnormal shape or form of the proximal phalanx of the big toe. [HPO:probinson]


Absent/underdeveloped 5th long bone of hand

Aplasia/Hypoplasia of the 5th metacarpal

Aplasia or Hypoplasia affecting the 5th metacarpal. [HPO:curators]


Absence of the fourth long bone of the hand. [HPO:curator]


Absent/underdeveloped 4th long bone of hand

Aplasia/Hypoplasia of the 4th metacarpal

Aplasia or Hypoplasia affecting the 4th metacarpal. [HPO:curators]


Absence of the third long bone of the hand. [HPO:curators]


Absent/underdeveloped 3rd long bone of hand

Aplasia/Hypoplasia of the 3rd metacarpal

Aplasia or Hypoplasia affecting the 3rd metacarpal. [HPO:curators]


Absence of the second long bone of the hand. [HPO:curators]


Absent/underdeveloped 2nd long bone of hand

Aplasia/Hypoplasia of the 2nd metacarpal

Aplasia or Hypoplasia affecting the 2nd metacarpal. [HPO:curators]


This term applies to a triangular shaped 1st metacarpal. [HPO:probinson]


Uneven increase in bone density in 1st long bone of hand

Uneven increase in bone density within the 1st metacarpal. [HPO:probinson]


Osteolytic defects of the 1st metacarpal

Dissolution or degeneration of bone tissue of the 1st metacarpal. [HPO:probinson]


A deviation from the normal straight shape of the first metacarpal. [HPO:probinson]


The presence of short and wide 1st metacarpal which tapers distally (bullet shaped")." [HPO:probinson]


Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]


Absent/underdeveloped 1st long bone of hand

Aplasia/Hypoplasia of the 1st metacarpal

Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). [HPO:curators]


Triangular end part of the 1st long bone of hand

Triangular epiphysis of the 1st metacarpal


Small end part of the 1st long bone of hand

Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms. [HPO:probinson]


The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal. [HPO:probinson]


Increased bone density of end part of the 1st long bone of hand

The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]


Irregular end part of the 1st long bone of hand

Irregular epiphysis of the 1st metacarpal

Uneven radiographic opacity of the epiphysis of the 1st metacarpal. [HPO:probinson]


Fragmentation of the end part of the 1st long bone of hand

Fragmentation of the epiphysis of the 1st metacarpal

Epiphysis of the 1st metacarpal having multiple bony fragments. [HPO:probinson]


Enlarged end part of the 1st long bone of hand

Enlarged epiphysis of the 1st metacarpal

Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms. [HPO:probinson]


Cone-shaped end part of the 1st long bone of hand

Cone-shaped epiphysis of the 1st metacarpal

A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance. [HPO:probinson]


Bracket shaped end part of 1st long bone of hand

An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate. [HPO:probinson, PMID:24432108]


Absent end part of the 1st long bone of hand


Abnormality of the end part of the 1st long bone of hand

Abnormality of the epiphysis of the 1st metacarpal

In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays. [HPO:curators]


Abnormality of the 5th long bone of hand

Any abnormality of the fifth metacarpal bone. [HPO:curators]


Abnormality of the 4th long bone of hand

Any abnormality of the fourth metacarpal bone. [HPO:curators]


Abnormality of the 3rd long bone of hand

Any abnormality of the third metacarpal bone. [HPO:curators]


Abnormality of the 2nd long bone of hand

Any abnormality of the second metacarpal bone. [HPO:curators]


Abnormality of the 1st long bone of hand

A structural anomaly of the first metacarpal. [HPO:probinson]


Partial duplication of the middle bones of hand

Partial duplication of the middle phalanges of the hand

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:curators]


Partial duplication of the innermost bones of the hand

Partial duplication of the proximal phalanges of the hand

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:curators]


Complete duplication of the middle bones of the hand

Complete duplication of the middle phalanges of the hand

A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism. [HPO:sdoelken]


Complete duplication of the outermost bones of the hand

Complete duplication of the distal phalanges of the hand

A complete duplication affecting one or more of the distal phalanges of the hand. [HPO:sdoelken]


Complete duplication of the innermost bones of the hand

Complete duplication of the proximal phalanges of the hand

A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. [HPO:curators]


Partial duplication of the phalanx of hand

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:curators]


A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. [HPO:curators]


Partial duplication of the innermost pinkie finger bone

Partial duplication of the innermost little finger bone

Partial duplication of the innermost pinky finger bone

Partial duplication of the proximal phalanx of the 5th finger

Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]


Partial duplication of the middle pinky finger bone

Partial duplication of the middle pinkie finger bone

Partial duplication of the middle little finger bone

Partial duplication of the middle phalanx of the 5th finger

Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]


Complete duplication of the innermost pinkie finger bone

Complete duplication of the innermost pinky finger bone

Complete duplication of the innermost little finger bone

Complete duplication of the proximal phalanx of the 5th finger

Complete duplication of the fifth proximal phalanx of hand. [HPO:probinson]


Complete duplication of the middle pinky finger bone

Complete duplication of the middle pinkie finger bone

Complete duplication of the middle little finger bone

Complete duplication of the middle phalanx of the 5th finger

Complete duplication of the fifth middle phalanx of hand. [HPO:probinson]


Complete duplication of the outermost pinkie finger bone

Complete duplication of the outermost little finger bone

Complete duplication of the outermost pinky finger bone

Complete duplication of the distal phalanx of the 5th finger

Complete duplication of the distal phalanx of little finger. [HPO:probinson]


Partial duplication of the pinky finger bone

Partial duplication of the little finger bone

Partial duplication of the pinkie finger bone

Partial duplication of the phalanges of the 5th finger

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:curators]


Complete duplication of the pinkie finger bone

Complete duplication of the pinky finger bone

Complete duplication of the little finger bone

Complete duplication of the phalanges of the 5th finger

A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. [HPO:curators]


Partial duplication of the innermost bone of the ring finger

Partial duplication of the proximal phalanx of the 4th finger

Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]


Partial duplication of the middle bone of the ring finger

Partial duplication of the middle phalanx of the 4th finger

Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]


Complete duplication of the proximal bone of the ring finger

Complete duplication of the proximal phalanx of the 4th finger

Complete duplication of the fourth proximal phalanx of hand. [HPO:probinson]


Complete duplication of the middle bone of the ring finger

Complete duplication of the middle phalanx of the 4th finger

Complete duplication of the middle phalanx of ring finger. [HPO:probinson]


Complete duplication of the outermost bone of the ring finger

Complete duplication of the distal phalanx of the 4th finger

Complete duplication of the distal phalanx of ring finger. [HPO:probinson]


Partial duplication of the bones of the ring finger

Partial duplication of the phalanges of the 4th finger

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:curators]


Complete duplication of the bones of the ring finger

Complete duplication of the phalanges of the 4th finger

A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. [HPO:curators]


Partial duplication of the proximal bone of the middle finger

Partial duplication of the proximal phalanx of the 3rd finger

Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]


Partial duplication of the middle bone of the 3rd finger

Partial duplication of the middle phalanx of the 3rd finger

Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]


Complete duplication of the innermost bone of the 3rd finger

Complete duplication of the proximal phalanx of the 3rd finger

Complete duplication of the third proximal phalanx of hand. [HPO:probinson]


Complete duplication of the middle bone of the middle finger

Complete duplication of the middle phalanx of the 3rd finger

Complete duplication of the middle phalanx of middle finger. [HPO:probinson]


Complete duplication of the outermost bone of the 3rd finger

Complete duplication of the distal phalanx of the 3rd finger

Complete duplication of the distal phalanx of middle finger [HPO:probinson]


Partial duplication of middle finger bones

Partial duplication of the phalanges of the 3rd finger

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:curators]


Complete duplication of middle finger bones

Complete duplication of the phalanges of the 3rd finger

A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. [HPO:curators]


Complete duplication of the bones of the index finger

Complete duplication of the phalanges of the 2nd finger

A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. [HPO:curators]


Partial duplication of the bones of the index finger

Partial duplication of the phalanges of the 2nd finger

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:curators]


Partial duplication of the proximal bones of the index finger

Partial duplication of the proximal phalanx of the 2nd finger

Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]


Complete duplication of the proximal bone of the index finger

Complete duplication of the proximal phalanx of the 2nd finger

Complete duplication of the second proximal phalanx of hand. [HPO:probinson]


Partial duplication of the middle bone of the index finger

Partial duplication of the middle phalanx of the 2nd finger

Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]


Complete duplication of the middle bone of the index finger

Complete duplication of the middle phalanx of the 2nd finger

Complete duplication of the middle phalanx of index finger. [HPO:probinson]


Complete duplication of the outermost bone of the index finger

Complete duplication of the distal phalanx of the 2nd finger

Complete duplication of the distal phalanx of index finger. [HPO:probinson]


Crooked mouth
Asymmetry of the mouth
Canted mouth
Uneven mouth
Asymmetry of oral cavity
Tilted mouth

The presence of an asymmetric mouth. [HPO:probinson]


Sunken cheeks
Hollow cheeks
Depressed cheeks

Lack or loss of the soft tissues between the zygomata and mandible. [PMID:19125436]


Narrow nasal septum
Decreased width of nasal septum
Thin nasal septum
Thin septum of nose
Narrow septum of nose

Abnormally narrow nasal septum. [HPO:probinson]


Underdevelopment of nasal septum
Ageneis of nasal septum
Failure of development of nasal septum

Absence or underdevelopment of the nasal septum. [HPO:curators]


Uneven nostril shape
Uneven nostril size
Asymmetry of nostrils
Unequal nostril size
Unequal nostril shape
Crooked nostrils

Asymmetry or size difference between the left and right nostril. [HPO:probinson]


Deformity of the columella
Malformation of the columella
Anomaly of the columella

An abnormality of the columella. [HPO:curators]


Decreased nasal size
Decreased size of nose

Underdevelopment or absence of the nose or parts thereof. [HPO:curators]


Persistence of the hyaloid artery
Persistent hyaloid artery

Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. [HPO:probinson, PMID:23772130]


Absent/underdeveloped tragus
Absent/small tragus

Aplasia or developmental hypoplasia of the tragus. [HPO:probinson]


An abnormality of the tragus. [HPO:probinson]


Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple. [HPO:probinson]


Decreased thickness of the helix of the ear. [HPO:probinson]


Abnormally prominent ear helix. [HPO:probinson]


Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. [PMID:19152421]


Increased thickness of the external ear. []


The presence of telangiectasia of the ear. [HPO:probinson]


Localized abnormal hair growth
Localised abnormal hair growth
Localised hirsutism

Abnormally increased hair growth with a localized distribution. [HPO:curators]


Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair. [HPO:curators]


Abnormality of hair colour
Abnormality of hair pigmentation
Abnormality of hair color

An abnormality of hair pigmentation (color). [HPO:curators]


Aplasia of outermost hand bone
Absent outermost hand bone
Absent distal phalanges of the hand

Aplasia of the distal phalanges of the hand


Abnormally wide (broad) distal phalanx of finger of all fingers. [HPO:probinson]


Cerebellar ataxia associated with quadrupedal gait

The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight). [HPO:curators]


Triangular shaped outermost bone of the hand

Triangular shaped distal phalanges of the hand


Triangular shaped proximal phalanges of the hand


Symphalangism affecting the proximal phalanges of the hand


Curved innermost finger bones of the hand


Bullet-shaped innermost finger bones of the hand

Bullet-shaped proximal phalanges of the hand

Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:curators]


Broad innermost finger bones of the hand

Increased width of the proximal phalanges of the finger. [HPO:probinson]


Absent/underdeveloped innermost finger bones of the hand

Absent/small innermost finger bones of the hand

Aplasia/Hypoplasia of the proximal phalanges of the hand


Triangular shaped middle finger bones of the hand

Triangular shaped middle phalanges of the hand


Symphalangism of middle phalanx of finger

Fusion of a middle phalanx of a finger with another bone. [HPO:probinson]


Osteolytic defects of the middle phalanges of the hand


Bullet-shaped middle phalanges of the hand

Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]


Curved outermost finger bone of the hand


Bullet-shaped outermost finger bone of the hand

Bullet-shaped distal phalanges of the hand

Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. []


Abnormality of the proximal phalanges of the hand

Abnormality of the innermost finger bones of the hand

Abnormal proximal phalanx morphology of the hand


Abnormality of the middle finger bones of the hand

Abnormality of the middle phalanges of the hand

Abnormal middle phalanx morphology of the hand

An anomaly of middle phalanx of finger. [HPO:probinson]


The distal parts of the limbs are missing leading to a stump formation. [HPO:probinson]


Aplasia involving bones of the extremities


Aplasia involving bones of the upper limbs


Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation. [HPO:sdoelken]


Amelia of one or both legs. [HPO:curators]


Aplasia involving bones of the lower limbs


Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation. [HPO:sdoelken]


Amelia of one or both upper limbs. [HPO:curators]


A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes. [HPO:curators]


Reduced number of teeth
Decreased tooth count
Fewer teeth than normal
Failure of development of some teeth
Missing some teeth
Teeth, agenesis
Tooth agenesis
Decreased number of teeth

The absence of one or more teeth from the normal series by a failurento develop [HPO:sdoelken, PMID:31468724]


Absence of one or more of the phalanges of the hand. [HPO:curators]


Presence of a bifid sacral bone. [HPO:probinson]


Absent/small quadriceps
Absent/underdeveloped quadriceps

Absence or underdevelopment of the quadriceps muscle. [HPO:curators]


Absent/underdeveloped thigh muscles
Absent/small thigh muscles

Aplasia/Hypoplasia of the musculature of the thigh

Absence or underdevelopment involving the musculature of the thigh. [HPO:curators]


Absent/small triceps
Absent/underdeveloped triceps

Absence or underdevelopment of the triceps muscle. [HPO:curators]


Absent/small biceps
Absent/underdeveloped biceps

Absence or underdevelopment of the biceps muscle. [HPO:curators]


A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape. [HPO:probinson]


Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome. [HPO:curators]


Absence of the pectoralis major muscle. [HPO:curators]


An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord. [HPO:curators]


Underdevelopment of parotid gland
Abnormally small parotid gland

Absence of the parotid gland. [HPO:curators]


Pseudarthrosis, or false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life." [HPO:probinson, PMID:30996736]


Neurofibromas originating in the spine. [HPO:probinson]


The presence of a hamartoma of the cerebrum. [HPO:probinson]


A lesion located beneath a fingernail or toenail. [HPO:curators]


Hypomelanotic macules (ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis." [HPO:probinson, PMID:10695583]


A cystadenoma, an epithelial tumor, that originates within the head of the epididymis. [HPO:probinson, PMID:24441657]


An abnormality of the epididymis. [HPO:probinson]


A hemangioblastoma that arises from the spinal cord. It may be associated with von Hippel-Lindau disease.


Fusion involving the 5th long bone of hand


Fusion involving the 4th long bone of hand


Fusion involving the 3rd long bone of hand


Fusion involving the 2nd long bone of hand


Chronic cerebrospinal fluid lymphocytosis

Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter. [HPO:probinson]


Contracture of the distal interphalangeal joint of the fingers

Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers. [HPO:probinson]


Bracket shaped end part of the thumb bone

An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]


Absence of one or more epiphyses of the thumb. [HPO:curators]


Triangular end part of thumb outermost bone

Triangular epiphysis of the outermost bone of the thumb

Triangular epiphysis of the distal phalanx of the thumb

A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]


Speckled calcifications in the end part of the outermost thumb bone

Stippling of the epiphysis of the distal phalanx of the thumb

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb. [HPO:probinson]


Small epiphysis of the distal phalanx of the thumb

Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. [HPO:probinson]


Pseudoepiphysis of the outermost bone of the thumb

Pseudoepiphysis of the distal phalanx of the thumb

A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb. [HPO:probinson]


Increased bone density of end part of the outermost bone of the thumb

Ivory epiphysis of the distal phalanx of the thumb

Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:probinson]


Irregular end part of thumb outermost bone

Irregular epiphysis of the distal phalanx of the thumb

Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb. [HPO:probinson]


Fragmentation of end part thumb outermost long bone

Fragmentation of the epiphysis of the distal phalanx of the thumb

Epiphysis of the distal phalanx of the thumb having multiple bony fragments. [HPO:probinson]


Bracket shaped end part of thumb outermost long bone

Bracket epiphysis of the distal phalanx of the thumb

An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:probinson]


Absent end part of thumb outermost long bone

Absent epiphysis of the distal phalanx of the thumb

Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb. [HPO:curators]


Triangular end part of thumb innermost long bone

Triangular epiphysis of the proximal phalanx of the thumb

A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]


Speckled calcifications in end part of thumb innermost long bone

Stippling of the epiphysis of the proximal phalanx of the thumb

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:probinson]


Small end part of thumb innermost long bone

Small epiphysis of the proximal phalanx of the thumb

Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. [HPO:probinson]


Pseudoepiphysis of the proximal phalanx of the thumb

A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb. [HPO:probinson]


Increased bone density of end part of the innermost bone of the thumb

Ivory epiphysis of the proximal phalanx of the thumb

Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:probinson]


Irregular end part of thumb innermost long bone

Irregular epiphysis of the proximal phalanx of the thumb

Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]


Fragmentation of end part of thumb innermost long bone

Fragmentation of the epiphysis of the proximal phalanx of the thumb

Epiphysis of the proximal phalanx of the thumb having multiple bony fragments. [HPO:probinson]


Enlarged end part of thumb innermost long bone

Enlarged epiphysis of the proximal phalanx of the thumb

Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]


Cone-shaped end part of thumb innermost long bone

Cone-shaped epiphysis of the proximal phalanx of the thumb

A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:probinson]


Bracket shaped end part of thumb innermost long bone

Bracket epiphysis of the proximal phalanx of the thumb

An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:probinson]


Absent end part of thumb innermost long bone

Absent epiphysis of the proximal phalanx of the thumb

Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]


Abnormality of end part of thumb innermost long bone

Abnormality of the epiphysis of the proximal phalanx of the thumb

This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]


The absence of a phalangeal segment of a thumb. [PMID:probinson]


Absent/small thumb bones
Absent/underdeveloped thumb bones

Aplasia/Hypoplasia of the phalanges of the thumb


Triangular shaped outermost bone of the thumb

Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:probinson]


Uneven increase in bone density in the outermost bone of the thumb

Patchy sclerosis of the distal phalanx of the thumb

An uneven increase in bone density of the distal phalanx of the thumb. [HPO:probinson]


A deviation from the normal straight shape of the distal phalanx of the thumb. [HPO:probinson]


Bullet-shaped outermost bone of the thumb

Bullet-shaped distal phalanx of the thumb

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected. [HPO:probinson]


Absent/underdeveloped outermost thumb bone

Aplasia/Hypoplasia of the distal phalanx of the thumb


Ankylosis of the metacarpophalangeal joint of the thumb

Fusion of the innermost bone of the thumb with the 1st long bone of hand

Synostosis of the proximal phalanx of the thumb with the 1st metacarpal

Fusion of the proximal phalanx of the thumb with the 1st metacarpal. [HPO:probinson, PMID:26571461]


Fusion of a phalanx of the thumb with another bone. [HPO:probinson]


Uneven increase in bone density in the innermost thumb bone

Patchy sclerosis of the proximal phalanx of the thumb

An uneven increase in bone density of the proximal phalanx of the thumb. [HPO:probinson]


A deviation from the normal straight shape of the proximal phalanx of the thumb. [HPO:probinson]


Bullet-shaped proximal phalanx of the thumb

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected. [HPO:probinson]


Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]


Absent/underdeveloped innermost thumb bone

Aplasia/Hypoplasia of the proximal phalanx of the thumb

This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]


Contractures of the carpometacarpal joint of the thumb

Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint. [HPO:probinson]


Insertion of thumb at a more distal location than normal. [HPO:probinson]


Complete duplication of the first long bone of hand

Complete duplication of the first metacarpal bone. [HPO:probinson]


This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:probinson]


Complete duplication of the innermost bone of the thumb

Complete duplication of proximal phalanx of the thumb

Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:probinson]


Fused innermost bone of index finger with 2nd long bone of hand

Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal

Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal. [HPO:curators]


Aplasia of the proximal phalanx of the 2nd finger

Absence of the proximal phalanx of the 2nd finger. [HPO:curators]


The presence of a peripheral schwannoma. [HPO:probinson]


Symphalangism affecting the proximal phalanx of the 2nd finger

Fusion of the proximal phalanx of the 2nd finger with another bone. [HPO:curators]


Uneven increase in bone density in innermost index finger bone

Patchy sclerosis of the proximal phalanx of the 2nd finger

Uneven (irregular) increase in bone density of the proximal phalanx of the second finger. [HPO:probinson]


Curved proximal phalanx of the 2nd finger

Curved appearance of the proximal phalanx of the 2nd finger. [HPO:curators]


Bullet-shaped innermost bone of index finger

Bullet-shaped proximal phalanx of the 2nd finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected. [HPO:curators]


Absent/small innermost index finger bone

Absent/underdeveloped innermost index finger bone

Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger


Fused innermost and middle index finger bones

Proximal/middle symphalangism of the 2nd finger

Fusion of the proximal and middle phalanges of the 2nd finger. [HPO:curators]


Triangular shaped middle bone of index finger

Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]


Symphalangism of middle phalanx of 2nd finger

Fusion of the middle phalanx of the 2nd finger with another bone. [HPO:curators]


Uneven increase in bone density in the middle bone of the index finger

Patchy sclerosis of the middle phalanx of the 2nd finger

Uneven (irregular) increase in bone density of the middle phalanx of the second finger. [HPO:probinson]


Curved appearance of the middle phalanx of the 2nd finger. [HPO:curators]


Bullet-shaped middle bone of index finger

Bullet-shaped middle phalanx of the 2nd finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected. [HPO:curators]


Increased width of the middle phalanx of the second finger. [HPO:sdoelken]


Triangular shaped outermost bone of the 2nd finger

Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]


Uneven increase in bone density in the outermost bone of the 2nd finger

Patchy sclerosis of the distal phalanx of the 2nd finger

Uneven (irregular) increase in bone density of the distal phalanx of the second finger. [HPO:probinson]


Curved outermost bone of the index finger

Curved appearance of the distal phalanx of the 2nd finger. [HPO:curators]


Bullet-shaped outermost bone of the index finger

Bullet-shaped distal phalanx of the 2nd finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected. [HPO:curators]


Increased width of the distal phalanx of the 2nd finger. [HPO:curators]


Absent/small outermost index finger bone

Absent/underdeveloped outermost index finger bone

Aplasia/Hypoplasia of the distal phalanx of the 2nd finger


Decreased size of pharynx
Underdevelopment of pharynx

Underdevelopment of the pharynx. [HPO:curators]


Hair displacement, preauricular, towards lateral cheekbone

Projection of scalp hair onto lateral cheek

An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones. [HPO:probinson]


The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair. [HPO:probinson]


Absent/small index finger bone
Absent/underdeveloped index finger bone

Aplasia/Hypoplasia of the phalanges of the 2nd finger


Bullet-shaped phalanges of the 2nd finger

A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]


Contracture of the metacarpophalangeal joint of the 2nd finger

Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue. [HPO:curators]


Contracture of the distal interphalangeal joint of the 2nd finger

Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. [HPO:probinson]


Speckled calcifications in end part of the innermost long bone of index finger

Stippling of the epiphysis of the proximal phalanx of the 2nd finger


Small end part of proximal long bond of index finger

Small epiphysis of the proximal phalanx of the 2nd finger


Pseudoepiphysis of the proximal phalanx of the 2nd finger

A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]


Increased bone density of end part of the innermost bone of the index finger

Ivory epiphysis of the proximal phalanx of the 2nd finger


Irregular end part of innermost long bone of index finger

Irregular epiphysis of the proximal phalanx of the 2nd finger


Fragmentation of end part of innermost long bone of index finger

Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger


Absent end part of innermost long bone of index finger

Absent epiphysis of the proximal phalanx of the 2nd finger


Triangular end part of the middle bone of the index finger

Triangular epiphysis of the middle phalanx of the 2nd finger


Speckled calcifications in end part of the middle bone of the index finger

Stippling of the epiphysis of the middle phalanx of the 2nd finger


Small end part of the innermost long bone of index finger

Small epiphysis of the middle phalanx of the 2nd finger


Pseudoepiphysis of the middle phalanx of the 2nd finger

A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]


Increased bone density of end part of the middle bone of the index finger

Ivory epiphysis of the middle phalanx of the 2nd finger


Irregular end part of the middle long bone of the index finger

Irregular epiphysis of the middle phalanx of the 2nd finger


Fragmentation of end part of the middle long bone of the index finger

Fragmentation of the epiphysis of the middle phalanx of the 2nd finger


Enlarged end part of the middle bone of the index finger

Enlarged epiphysis of the middle phalanx of the 2nd finger


Bracket shaped end part of the middle long bone of the index finger

Bracket epiphysis of the middle phalanx of the 2nd finger

An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]


Triangular end part of the outermost bone of the index finger

Triangular epiphysis of the distal phalanx of the 2nd finger

A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]


Speckled calcifications in end part of the outermost bone of the index finger

Stippling of the epiphysis of the distal phalanx of the 2nd finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger. [HPO:curators]


Small end part of the outermost bone of the index finger

Small epiphysis of the distal phalanx of the 2nd finger

Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. [HPO:curators]


Pseudoepiphysis of the distal phalanx of the 2nd finger

A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]


Irregular end part of the outermost bone of the index finger

Irregular epiphysis of the distal phalanx of the 2nd finger

Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger. [HPO:curators]


Fragmentation of end part of the outermost bone of the index finger

Fragmentation of the epiphysis of the distal phalanx of the 2nd finger

Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger. [HPO:curators]


Enlarged end part of the outermost bone of the index finger

Enlarged epiphysis of the distal phalanx of the 2nd finger

Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. [HPO:curators]


Cone-shaped end part of the outermost bone of the index finger

Cone-shaped epiphysis of the distal phalanx of the 2nd finger

A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [HPO:curators]


Bracket shaped end part of the outermost bone of the index finger

Bracket epiphysis of the distal phalanx of the 2nd finger

An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]


A triangular appearance of the epiphyses of the 2nd finger of the hand. [HPO:curators]


Speckled calcifications in end part of the index finger

Stippling of the epiphyses of the 2nd finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger. [HPO:curators]


Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms. [HPO:curators]


Increased bone density of end part of the index finger bone

Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]


Irregular radiographic opacity of the epiphyses of the 2nd finger. [HPO:curators]


Fragmentation of end part of the index finger

Fragmentation of the epiphyses of the 2nd finger

Fragmented appearance of the epiphyses of the 2nd finger. [HPO:curators]


Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms. [HPO:curators]


Cone-shaped end part of the index finger

A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. [HPO:curators]


Absence of the epiphyses of the 2nd finger. [HPO:curators]


Radial deviation of the hand or of fingers of the hand


Deviation of the hand or of fingers of the hand

Displacement of the hand or of fingers of the hand from their normal position. [HPO:curators]


Fused innermost bones of middle finger with middle long bone of hand

Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal

Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal. [HPO:curators]


Fused of innermost and middle bones of middle finger

Proximal/middle symphalangism of 3rd finger

Fusion of the proximal and middle phalanges of the 3rd finger. [HPO:curators]


Fused innermost bone of ring finger with 4th long bone of hand

Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal

Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal. [HPO:curators]


Fused innermost and middle bone of fourth finger

Proximal/middle symphalangism of 4th finger

Fusion of the proximal and middle phalanges of the 4th finger. [HPO:sdoelken]


Contracture of the metacarpophalangeal joint of the 3rd finger

Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue. [HPO:curators]


Contracture of the outermost hinge joint of the 3rd finger

Contracture of the distal interphalangeal joint of the 3rd finger

Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. [HPO:probinson]


Displacement of the 3rd finger towards the radial side (i.e., towards the thumb). [HPO:sdoelken]


Aplasia of the proximal phalanx of the 3rd finger

Absence of the proximal phalanx of the 3rd finger. [HPO:curators]


Absent/small innermost bone of middle finger

Absent/underdeveloped innermost bone of middle finger

Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger


Triangular shaped innermost bone of middle finger

Triangular shaped proximal phalanx of the 3rd finger

Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]


Symphalangism affecting the proximal phalanx of the 3rd finger

Fusion of the proximal phalanx of the 3rd finger with another bone. [HPO:curators]


Uneven increase in bone density in the innermost bone of the middle finger

Patchy sclerosis of the proximal phalanx of the 3rd finger

Uneven (irregular) increase in bone density of the proximal phalanx of the third finger. [HPO:probinson]


Osteolytic defects of the proximal phalanx of the 3rd finger

Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger. [HPO:curators]


Curved proximal phalanx of the 3rd finger

Curved appearance of the proximal phalanx of the 3rd finger. [HPO:curators]


Bullet-shaped innermost bone of the middle finger

Bullet-shaped proximal phalanx of the 3rd finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected. [HPO:curators]


Broad proximal phalanx of the 3rd finger

Increased width of the proximal phalanx of the 3rd finger. [HPO:curators]


Absent/underdeveloped middle finger bone

Aplasia/Hypoplasia of the phalanges of the 3rd finger


Triangular shaped bone of the middle finger

Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]


Fusion of two or more bones of the 3rd finger. [HPO:curators]


Curved appearance of the phalanges of the 3rd finger. [HPO:curators]


Bullet-shaped phalanges of the 3rd finger

A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:curators]


Absent/small middle bone of the middle finger

Absent/underdeveloped middle bone of the middle finger

Aplasia/Hypoplasia of the middle phalanx of the 3rd finger


Triangular shaped middle bone of the middle finger

Triangular shaped middle phalanx of the 3rd finger

Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]


Symphalangism of middle phalanx of 3rd finger

Fusion of the middle phalanx of the 3rd finger with another bone. [HPO:curators]


Uneven increase in bone density in the middle bone of the middle finger

Patchy sclerosis of the middle phalanx of the 3rd finger

Uneven (irregular) increase in bone density of the middle phalanx of the third finger. [HPO:probinson]


Osteolytic defects of the middle phalanx of the 3rd finger

Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger. [HPO:curators]


Curved appearance of the middle phalanx of the 3rd (middle) finger. [HPO:curators]


Bullet-shaped middle bone of middle finger

Bullet-shaped middle phalanx of the 3rd finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected. [HPO:curators]


Absent of the outermost bone of the middle finger

Aplasia of the distal phalanx of the 3rd finger

Absence of the distal phalanx of the middle (3rd) finger. [HPO:curators]


Curved appearance of the distal phalanx of the 3rd finger. [HPO:curators]


Triangular shaped outermost bone of the middle finger

Triangular shaped distal phalanx of the 3rd finger

Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]


Uneven increase in bone density in the outermost bone of the 3rd finger

Patchy sclerosis of the distal phalanx of the 3rd finger

Uneven (irregular) increase in bone density of the distal phalanx of the third finger. [HPO:probinson]


Bullet-shaped outermost bone of the middle finger

Bullet-shaped distal phalanx of the 3rd finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected. [HPO:curators]


Increased width of the distal phalanx of the 3rd finger. [HPO:curators]


Absent/underdeveloped outermost middle finger bone

Absent/small outermost middle finger bone

Aplasia/Hypoplasia of the distal phalanx of the 3rd finger


Speckled calcifications in end part of middle finger bone

Stippling of the epiphyses of the 3rd finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger. [HPO:curators]


Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms. [HPO:curators]


Increased bone density of end part of the middle finger bone

Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]


Irregular end part of middle finger bone

Irregular radiographic opacity of the epiphyses of the 3rd finger. [HPO:curators]


Fragmentation of end part of middle finger bone

Fragmentation of the epiphyses of the 3rd finger

Fragmented appearance of the epiphyses of the 3rd finger. [HPO:curators]


Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms. [HPO:curators]


Cone-shaped end part of middle finger bone

A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. [HPO:curators]


Bracket shaped end part of middle finger bone

An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]


Absence of the epiphyses of the 3rd finger. [HPO:curators]


Absent/underdeveloped ring finger bones
Absent/small ring finger bones

Aplasia/Hypoplasia of the phalanges of the 4th finger


Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]


Bullet-shaped phalanges of the 4th finger

A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:curators]


Increased width of the phalanges of the 4th finger. [HPO:curators]


Speckled calcifications in end part of ring finger bone

Stippling of the epiphyses of the 4th finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger. [HPO:curators]


Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms. [HPO:curators]


A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]


Increased bone density of end part of the ring finger bone

Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]


Irregular end part of the ring finger bones

Irregular radiographic opacity of the epiphyses of the 4th finger. [HPO:curators]


Fragmentation of the end part of the ring finger bones

Fragmentation of the epiphyses of the 4th finger

Fragmented appearance of the epiphyses of the 4th finger. [HPO:curators]


Enlarged end part of the ring finger bones

Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms. [HPO:curators]


Cone-shaped end part of the ring finger bones

A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. [HPO:curators]


Bracket shaped end part of ring finger bones

An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]


Absence of one or more epiphyses of the 4th finger. [HPO:curators]


Speckled calcifications in end part of pinkie finger bone

Speckled calcifications in end part of little finger bone

Speckled calcifications in end part of pinky finger bone

Stippling of the epiphyses of the 5th finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger. [HPO:curators]


Small end part of pinky finger bone
Small end part of pinkie finger bone
Small end part of little finger bone

Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms. [HPO:curators]


A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]


Increased bone density of end part of the little finger

Increased bone density of end part of the pinky finger

Increased bone density of end part of the pinkie finger

Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]


Irregular end part of the little finger bones

Irregular end part of the pinkie finger bones

Irregular end part of the pinky finger bones

Irregular radiographic opacity of the epiphyses of the 5th finger. [HPO:curators]


Fragmentation of the end part of the little finger bones

Fragmentation of the end part of the pinky finger bones

Fragmentation of the end part of the pinkie finger bones

Fragmentation of the epiphyses of the 5th finger

Fragmented appearance of the epiphyses of the 5th finger. [HPO:curators]


Enlarged end part of the little finger bones

Enlarged end part of the pinky finger bones

Enlarged end part of the pinkie finger bones

Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms. [HPO:curators]


Cone-shaped end part of the little finger bones

Cone-shaped end part of the pinkie finger bones

Cone-shaped end part of the pinky finger bones

A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. [HPO:curators]


Bracket shaped end part of little finger bone

Bracket shaped end part of pinky finger bone

Bracket shaped end part of pinkie finger bone

An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]


Absent end part of pinky finger bone
Absent end part of pinkie finger bone
Absent end part of little finger bone

Absence of one or more epiphyses of the 5th finger. [HPO:curators]


Rhomboid or triangular shaped pinkie finger bone

Rhomboid or triangular shaped little finger bone

Rhomboid or triangular shaped pinky finger bone

Rhomboid or triangular shaped 5th finger distal phalanx

Rhomboid or triangular shaped 5th (little) finger distal phalanx. [HPO:curators]


Triangular shaped little finger bones
Triangular shaped pinky finger bones
Triangular shaped pinkie finger bones

Triangular shaped phalanges of the 5th finger

Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]


Absent/underdeveloped pinky finger bones

Aplasia/Hypoplasia of the phalanges of the 5th finger. [HPO:curators]


Bullet-shaped little finger bones
Bullet-shaped pinky finger bones
Bullet-shaped pinkie finger bones

Bullet-shaped phalanges of the 5th finger

A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:curators]


Broad pinky finger bones
Broad pinkie finger bones
Broad little finger bones

Increased width of the phalanges of the 5th finger. [HPO:curators]


Speckled calcifications in end part of innermost long bone of the middle finger

Stippling of the epiphysis of the proximal phalanx of the 3rd finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger. [HPO:curators]


Small end part of innermost long bone of the middle finger

Small epiphysis of the proximal phalanx of the 3rd finger

Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. [HPO:curators]


Pseudoepiphysis of the proximal phalanx of the 3rd finger

A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]


Increased bone density of end part of the innermost middle finger bone

Ivory epiphysis of the proximal phalanx of the 3rd finger

Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]


Irregular end part of innermost long bone of the middle finger

Irregular epiphysis of the proximal phalanx of the 3rd finger

Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger. [HPO:curators]


Fragmentation of end part of innermost long bone of the middle finger

Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger

Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger. [HPO:curators]


Cone-shaped end part of the innermost bone of the middle finger

Cone-shaped epiphysis of the proximal phalanx of the 3rd finger

A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [HPO:curators]


Bracket shaped end part of innermost long bone of the middle finger

Bracket epiphysis of the proximal phalanx of the 3rd finger

An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]


Absent end part of innermost long bone of the middle finger

Absent epiphysis of the proximal phalanx of the 3rd finger

Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger. [HPO:curators]


Speckled calcifications in end part of the outermost long bone of the middle finger

Stippling of the epiphysis of the distal phalanx of the 3rd finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger. [HPO:curators]


Small end part of the outermost long bone of the middle finger

Small epiphysis of the distal phalanx of the 3rd finger

Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms. [HPO:curators]


Pseudoepiphysis of the outermost bone of the middle finger

Pseudoepiphysis of the distal phalanx of the 3rd finger

A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]


Increased bone density of end part of the outermost middle finger bone

Ivory epiphysis of the distal phalanx of the 3rd finger

Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]


Irregular end part of the outermost long bone of the middle finger

Irregular epiphysis of the distal phalanx of the 3rd finger

Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger. [HPO:curators]


Fragmentation of end part of the outermost bone of the middle finger

Fragmentation of the epiphysis of the distal phalanx of the 3rd finger

Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger. [HPO:curators]


Enlarged end part of the outermost bone of the 3rd finger

Enlarged epiphysis of the distal phalanx of the 3rd finger

Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms. [HPO:curators]


Cone-shaped end part of the outermost bone of the middle finger

Cone-shaped epiphysis of the distal phalanx of the 3rd finger

A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [HPO:curators]


Bracket shaped end part of the outermost bone of the middle finger

Bracket epiphysis of the distal phalanx of the 3rd finger

An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]


Absent end part of the outermost bone of the middle finger

Absent epiphysis of the distal phalanx of the 3rd finger

Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger. [HPO:curators]


Abnormality of the middle part of the middle bone of the middle finger

Abnormality of the epiphysis of the middle phalanx of the 3rd finger


Abnormality of the end part of the innermost bone of the middle finger

Abnormality of the epiphysis of the proximal phalanx of the 3rd finger


Abnormality of the end part of the outermost bone of the middle finger

Abnormality of the epiphysis of the distal phalanx of the 3rd finger


Speckled calcifications in end part of the middle bone of the middle finger

Stippling of the epiphysis of the middle phalanx of the 3rd finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger. [HPO:curators]


Small end part of the middle bone of the middle finger

Small epiphysis of the middle phalanx of the 3rd finger

Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. [HPO:curators]


Increased bone density of end part of the middle bone of the middle finger

Ivory epiphysis of the middle phalanx of the 3rd finger

Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]


Irregular end part of the middle bone of the middle finger

Irregular epiphysis of the middle phalanx of the 3rd finger

Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger. [HPO:curators]


Fragmentation of end part of the middle bone of the middle finger

Fragmentation of the epiphysis of the middle phalanx of the 3rd finger

Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger. [HPO:curators]


Enlarged end part of the middle bone of the middle finger

Enlarged epiphysis of the middle phalanx of the 3rd finger

Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. [HPO:curators]


Cone-shaped end part of the middle bone of the middle finger

Cone-shaped epiphysis of the middle phalanx of the 3rd finger

A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [HPO:curators]


Bracket shaped end part of the middle bone of the middle finger

Bracket epiphysis of the middle phalanx of the 3rd finger

An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]


Absent end part of the middle bone of the middle finger

Absent epiphysis of the middle phalanx of the 3rd finger

Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger. [HPO:curators]


Abnormality of end part of the middle bone of the middle finger

Abnormality of the epiphyses of the 3rd finger

Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger. [HPO:curators]


Absent/underdeveloped middle finger
Absent/small middle finger

A small/hypoplastic or absent/aplastic 3rd (middle) finger. [HPO:curators]


Triangular shaped innermost bone of the ring finger

Triangular shaped innermost bone of the 4th finger

Triangular shaped proximal phalanx of the 4th finger

Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]


Symphalangism affecting the proximal phalanx of the 4th finger

Fusion of the proximal phalanx of the 4th finger with another bone. [HPO:curators]


Uneven increase in bone density in the innermost bone of the ring finger

Patchy sclerosis of the proximal phalanx of the 4th finger

Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger. [HPO:probinson]


Osteolytic defects of the proximal phalanx of the 4th finger

Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger. [HPO:curators]


Bullet-shaped innermost ring finger bone

Bullet-shaped proximal phalanx of the 4th finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected. [HPO:curators]


Triangular shaped middle bone of the ring finger

Triangular shaped middle phalanx of the 4th finger

Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]


Symphalangism of middle phalanx of 4th finger

Fusion of the middle phalanx of the 4th finger with another bone. [HPO:sdoelken]


Uneven increase in bone density in the middle bone of the ring finger

Patchy sclerosis of the middle phalanx of the 4th finger

Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger. [HPO:probinson]


Triangular shaped outermost bone of the ring finger

Triangular shaped distal phalanx of the 4th finger

Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]


Uneven increase in bone density in the outermost bone of the ring finger

Patchy sclerosis of the distal phalanx of the 4th finger

Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger. [HPO:probinson]


Osteolytic defects of the distal phalanx of the 4th finger

Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger. [HPO:curators]


Bullet-shaped outermost bone of ring finger

Bullet-shaped distal phalanx of the 4th finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected. [HPO:curators]


Absent/underdeveloped middle ring finger bone

Aplasia/Hypoplasia of the middle phalanx of the 4th finger


Aplasia of the proximal phalanx of the 4th finger

Absence of the proximal phalanx of the ring (4th) finger. [HPO:curators]


Osteolytic defects of the middle phalanx of the 4th finger

Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger. [HPO:curators]


Bullet-shaped middle bone of the 4th finger

Bullet-shaped middle phalanx of the 4th finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected. [HPO:curators]


Increased width of the middle phalanx of the 4th finger. [HPO:curators]


Broad outermost bone of ring finger
Wide outermost bone of ring finger

Increased width of the distal phalanx of the 4th finger. [HPO:curators]


Aplasia of the distal phalanx of the 4th finger

Absence of the distal phalanx of the ring (4th) finger. [HPO:curators]


Absent/underdeveloped outermost ring finger bone

Aplasia/Hypoplasia of the distal phalanx of the 4th finger


Curved proximal phalanx of the 4th finger


Curved appearance of the middle phalanx of the 4th (ring) finger. [HPO:curators]


Curved appearance of the distal phalanx of the 4th (ring) finger. [HPO:curators]


Curved appearance of the phalanges of the 4th (ring) finger. [HPO:curators]


Abnormality of the outermost bone of ring finger

Abnormality of the distal phalanx of the 4th finger


Displacement of the 4th finger towards the radial side (i.e., towards the thumb). [HPO:sdoelken]


Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger). [HPO:sdoelken]


Contracture of the metacarpophalangeal joint of the 4th finger

Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue. [HPO:curators]


Contracture of the distal interphalangeal joint of the 4th finger

Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. [HPO:probinson]


Displacement of the 4th finger from its normal position. [HPO:curators]


Absent/small ring finger bone
Absent/underdeveloped ring finger bone

A small/hypoplastic or absent/aplastic 4th (ring) finger. [HPO:curators]