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Schinzel-Giedion syndrome

Orpha number ORPHA798
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q87.0
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 18899000

Summary

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


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