Bixler Christian Gorlin syndrome
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2213
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
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