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Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
rareA 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.
- Identifiers
- MONDO:0008357 OMIM:179250Orphanet:2252
- Part of
- Multiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic disease
- Also known as
- radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema · radial hypoplasia, triphalangeal thumbs and hypospadias · radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema · Schmitt Gillenwater Kelly syndrome · Schmitt-Gillenwater-Kelly syndrome
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