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Брахідактилія, тип С

ORPHA:93384· ICD-10 Q73.8· Brachydactyly type C

Визначення(English summary)

A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable.

Поширеність
Unknown
Успадкування
Autosomal dominant, Autosomal recessive
Вік початку
Infancy, Neonatal