Brachydactyly-preaxial hallux varus syndrome

Orpha code: 1278OMIM code: 112450

Definition

A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994.

Disease data
Classification

Malformation syndrome

ORPHA code
1278
OMIM code
112450
ICD10 code
Q73.8
ICD11 code
-

No additional description.

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