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Hypertelorism-microtia-facial clefting syndrome

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

Summary

Disease definition

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.

Epidemiology

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

Clinical description

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

Antenatal diagnosis

Antenatal diagnosis is possible by ultrasonographic monitoring.

Genetic counseling

The reported cases support autosomal recessive inheritance.

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