Brachydactyly type A1

Orpha code: 93388OMIM code: 616849

Definicja

A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Brachydactyly, Farabee type
Brachydaktylia, typ Farabee
Kod ORPHA
93388
Kod OMIM
616849
Kod ICD10
Q73.8
Kod ICD11
-

No additional description.

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