Brachydactyly type B1

Orpha code: 572385OMIM code: 113000

Definition

A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands.

Disease data
Classification

Clinical subtype

ORPHA code
572385
OMIM code
113000
ICD10 code
-
ICD11 code
-

No additional description.

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