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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