Phenotypes associated with the disease Brachydactyly type B (ORPHA:93383):
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93383)
- Absent fingernail (HP:0001817): Absence of a fingernail. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93383)
- Type B brachydactyly (HP:0005831). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93383)
- 2nd-5th toe middle phalangeal hypoplasia (HP:0008083). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93383)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93383)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93383)
- Synostosis of carpal bones (HP:0005048). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93383)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93383)
- 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:93383)
- Broad hallux phalanx (HP:0010059): An increase in width in one or more phalanges of the big toe. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93383)