Brachydactyly type B2

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A clinical subtype of brachydactyly type B characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V milder in fingers/toes II-III) in association with proximal and occasionally distal symphalangism fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs sensorineural hearing loss and farsightedness.

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 July 2024

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Brachydactyly type B2?

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