Брахідактилія, тип А4
ORPHA:93394· ICD-10 Q73.8· Brachydactyly type A4
Визначення(English summary)
A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant
- Вік початку
- Infancy, Neonatal