Orphanet: Schilbach Rott syndrome
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Schilbach-Rott syndrome

Disease definition

Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.

ORPHA:2353

Classification level: Disorder
  • Synonym(s):
    • BRSS
    • Hypotelorism-cleft palate-hypospadias syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 164220
  • UMLS: C1834038
  • MeSH: -
  • GARD: 2930
  • MedDRA: -

Detailed information

Professionals

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