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Брахідактилія, тип А2

ORPHA:93396· ICD-10 Q73.8· Brachydactyly type A2

Визначення(English summary)

A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder.

Поширеність
Unknown
Успадкування
Autosomal dominant
Вік початку
Infancy, Neonatal