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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 syndrome is characterised by midface hypoplasia, conductive hearing loss, hypertrichosis, coarse hair, shortened metacarpals and distal phalanges, short stature with a stocky body build and multiple ocular abnormalities. It has been reported in four females, two of whom were sisters. Transmission is autosomal recessive.


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