Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

Orpha code: 2252OMIM code: 179250

Definition

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema 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.

Disease data
Classification

Malformation syndrome

Synonyms
Schmitt-Gillenwater-Kelly syndrome
Zespół Schmitta, Gillenwatera i Kelly'ego
ORPHA code
2252
OMIM code
179250
ICD10 code
Q87.2
ICD11 code
-

No additional description.

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