Phenotypes associated with the disease Brachydactyly type C (ORPHA:93384):
- Abnormal fingernail morphology (HP:0001231): An abnormality of the fingernails. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93384)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93384)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93384)
- Short middle phalanx of finger (HP:0005819): Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93384)
- Type C brachydactyly (HP:0009373). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93384)
- Ulnar deviation of finger (HP:0009465): Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93384)
- Pseudoepiphysis of the 2nd finger (HP:0009495): A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93384)
- Complete duplication of distal phalanx of the thumb (HP:0009606): Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93384)
- Stippling of the epiphysis of the distal phalanx of the thumb (HP:0009684): The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93384)
- Finger symphalangism (HP:0009700): An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93384)
- Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026): 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). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93384)
- Metatarsus valgus (HP:0010508): A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93384)
- Cone-shaped epiphysis (HP:0010579): Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93384)
- Short metatarsal (HP:0010743): Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93384)