Diseases title

Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema )

Mut
Orpha Number: 2252
Synonym(s):
Schmitt-Gillenwater-Kelly syndrome

This syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.
source: Orphanet