Brachydactyly type A1

Orpha code: 93388OMIM code: 616849

Definition

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
Classification

Malformation syndrome

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl