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