Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Definition
A syndrome is characterized 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.
Also known as radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema, radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema, Schmitt Gillenwater Kelly syndrome, Schmitt-Gillenwater-Kelly syndrome — per MONDO