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Gorlin-Chaudhry-Moss syndrome

Disease definition

Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

ORPHA:2095

Classification level: Disorder
  • Synonym(s):
    • Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome
    • Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome
    • Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome
    • GCM syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 612289
  • UMLS: C0345382
  • MeSH: C537290
  • GARD: 66
  • MedDRA: -

Detailed information

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