Orphanet: Schinzel Giedion syndrome

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Schinzel-Giedion syndrome

Disease definition

Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.


Classification level: Disorder
  • Synonym(s):
    • SGS
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Antenatal, Neonatal, Infancy
  • ICD-10: Q87.0
  • OMIM: 269150
  • UMLS: C0265227
  • MeSH: -
  • GARD: 117
  • MedDRA: 10063540
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