Presentation
His father had unilateral post-axial polydactyly, which was also present bilaterally in a paternal uncle. [analesdepediatria.org]
Short metacarpals and symphalangism are occasionally present. The feet are either normal or show ordinary brachydactyly. [ojrd.biomedcentral.com]
Entire Body System
- Short Stature
Br-J-Ophthalmol. 1990 Oct; 74(10): 631-4 MacDermot,-K-D; Patton,-M-A; Williams,-M-J; Winter,-R-M Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. J-Med-Genet. 1989 Jun; 26(6): 382-5 [malattierare.regione.veneto.it]
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]