Brachydactyly long thumb type
Alternate names[edit | edit source]
Long-thumb brachydactyly syndrome
Definition[edit | edit source]
A very rare autosomal dominant heart-hand syndrome with characteristics of 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. It has been described in four family members from three generations, with no new cases having been reported since 1981.
NIH genetic and rare disease info[edit source]
Brachydactyly long thumb type is a rare disease.
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