| Description | A clinically variable and genetically heterogeneous malformation in which the developing forebrain fails to correctly separate into right and left hemispheres. In its most severe form (alobar holoprosencephaly), the forebrain consists of a single ventricle, and midbrain structures may be malformed as well. In the most extreme cases, anophthalmia or cyclopia is evident along with a congenital absence of the mature nose. In milder forms (semilobar or lobar holoprosencephaly), rudimentary midline structures are present. The less severe form features facial dysmorphia characterized by ocular hypertelorism, defects of the upper lip and/or nose, and absence of the olfactory nerves or corpus callosum. The majority of cases are sporadic, although families with both autosomal dominant and autosomal recessive holoprosencephaly have been described |
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