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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Brachydactyly type B1?
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Clinical Trials
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