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Guttmacher syndrome

Disease definition

Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.

ORPHA:2957

  • Synonym(s):
    • Preaxial deficiency-postaxial polydactyly-hypospadias syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.2
  • OMIM: 176305
  • UMLS: C1867801
  • MeSH: C538278
  • GARD: 4470
  • MedDRA: -

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