Brachydactyly-long thumb syndrome

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Brachydactyly-long thumb syndrome

Synonyms: Brachydactyly, long thumb type

A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet clinodactyly narrow shoulders with short clavicles pectus excavatum and mild shortness of the limbs cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981.

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 Data version December 2023

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