brachydactyly-long thumb syndrome https://rarediseases.info.nih.gov/diseases/968/brachydactyly-long-thumb-type https://www.malacards.org/card/long_thumb_brachydactyly_syndrome OMIM:112430 brachydactyly, long thumb type Brachydactyly - long thumb syndrome is a very 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.It has been described in four family members from three generations, with no new cases having been reported since 1981. GARD:0000968 MONDO:0007212 UMLS:C1862169 long-thumb brachydactyly syndrome MEDGEN:350609 brachydactyly long thumb type SCTID:733454004 MESH:C566204 Orphanet:2946 heart-hand syndrome