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Hypertelorism-microtia-facial clefting syndrome

Orpha number ORPHA2213
Synonym(s) Bixler-Christian-Gorlin syndrome
HMC syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.0
OMIM
UMLS
  • C0220742
MeSH -
MedDRA -
SNOMED CT -

Summary

Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.

Nine cases have been reported in the literature in seven families.

Some patients have associated cardiac or renal congenital malformations. Short stature and intellectual deficiency are common.

Antenatal diagnosis is possible by ultrasonographic monitoring.

The reported cases support autosomal recessive inheritance.


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