Hypertelorism-Microtia-Facial Clefting Syndrome
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.