BDE2
Presentation
Short metacarpals and symphalangism are occasionally present. The feet are either normal or show ordinary brachydactyly. [ojrd.biomedcentral.com]
Entire Body System
- Short Stature
Brachydactyly type E occurs with short stature and severe hypertension as an autosomal dominant syndrome (OMIM: 112410). [ojrd.biomedcentral.com]
Epidemiology
Epidemiology A very rare digital malformation. No epidemiologic studies available. Reported pedigrees are summarized in OMIM [4]. [ojrd.biomedcentral.com]