radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
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.
MONDO:0015620
obsolete syndromic urogenital tract malformation (obsolete MONDO:0015620)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
Schmitt Gillenwater Kelly syndrome
exact
Schmitt-Gillenwater-Kelly syndrome
exact
radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema
exact
radial hypoplasia, triphalangeal thumbs and hypospadias
related
radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema
exact