Synonyms: Brachydactyly, Farabee type
A rare congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.
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 September 2024
Newly diagnosed with
Brachydactyly type A1?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
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Clinical Trials
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