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Gorlin-Chaudhry-Moss syndrome

Orpha number ORPHA2095
Synonym(s) Craniofacial dysostosis - genital, dental, cardiac anomalies
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.0
OMIM
UMLS
  • C0345382
MeSH
  • C537290
MedDRA -
SNOMED CT
  • 205800003

Summary

Gorlin-Chaudhry-Moss (GCM) syndrome is an ectodermal dysplasia syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, underdeveloped genitalia, and ocular and dental anomalies.


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