Brachydactyly type A6

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Synonyms: Osebold-Remondini syndrome

A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs and carpal and tarsal bone abnormalities. In general the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.

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 June 2024

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Brachydactyly type A6?

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