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Saethre-Chotzen syndrome

Disease definition

Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.

ORPHA:794

  • Synonym(s):
    • ACS3
    • Acrocephalosyndactyly type 3
    • SCS
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 101400
  • UMLS: C0175699
  • MeSH: -
  • GARD: 7598
  • MedDRA: -

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