Brachydactyly type B1

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Name:
Brachydactyly type B1
Description:
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.
ORPHAcode:
572385
XREF(s):
Analyte(s):
Created:
20 Aug 2021 - 01:14
Changed:
22 Jun 2023 - 16:14