|syndroom van hypertelorisme, microtie en aangezichtsspleet (aandoening)|
syndroom van hypertelorisme, microtie en aangezichtsspleet
syndroom van Bixler-Christian-Gorlin
Hypertelorism with microtia and facial clefting syndrome
HMC (hypertelorism, microtia, clefting) syndrome
Bixler Christian Gorlin syndrome
A very rare syndrome with characteristics of 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. The reported cases support autosomal recessive inheritance.