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About: Brachydactyly-long thumb syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : dbo:Disease, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)

Type: ThingDiseasedisease New Facet based on Instances of this Class

Brachydactyly-long thumb syndrome is a very rare genetic disorder which is characterized by symmetric brachydactyly of the fingers accompanied by an abnormally long thumb, of the shoulder and metacarpo-phalangeal joints, and heart conduction defects. Small feet and hands, small shoulders accompanied with short clavicles, clinodactyly, pectus excavatum, mild limb shortening, cardiomegaly, and pulmonic stenosis murmur have also been reported. It was first discovered when D W Hollister et al. described 4 affected members belonging to a 3-generation family. No new cases have been reported since 1981. This disorder is inherited in an autosomal dominant manner.