Orphanet: Saethre Chotzen syndrome

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Saethre-Chotzen syndrome

Disease definition

A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations.


Classification level: Disorder
  • Synonym(s):
    • ACS3
    • Acrocephalosyndactyly type 3
    • SCS
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.0
  • OMIM: 101400  180750
  • UMLS: C0175699
  • MeSH: -
  • GARD: 7598
  • MedDRA: -

Detailed information

Article for general public


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