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Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

Disease 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.

ORPHA:2252

  • Synonym(s):
    • Schmitt-Gillenwater-Kelly syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.2
  • OMIM: 179250
  • UMLS: C1867397  C2931274
  • MeSH: -
  • GARD: 258
  • MedDRA: -

Additional information

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