radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Findings
No curated finding names radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008357), read 2026-09-29. CC BY 4.0.
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal dermatoglyphicsHPOHP:0007477
- Very frequent (80% to 99% of cases)
- Hypoplasia of the radiusHPOHP:0002984
- Very frequent (80% to 99% of cases)
- HypospadiasHPOHP:0000047
- Very frequent (80% to 99% of cases)
- Mandibular prognathiaHPOHP:0000303
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- Nonopposable triphalangeal thumbHPOHP:0005725
- Very frequent (80% to 99% of cases)
Where it sits
Other names
4 names
Resolves to: radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
- Also called
- radial hypoplasia triphalangeal thumbs hypospadias maxillary diastemaradial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastemaSchmitt Gillenwater Kelly syndromeSchmitt-Gillenwater-Kelly syndrome