- Patau) syndrome and trisomy 18 (Edwards) syndrome are associated with holoprosencephaly. There is an increased risk for holoprosencephaly in infants born to diabetic mothers. There is no treatment for holoprosencephaly and the prognosis for individuals with the disorder is poor. Most of those who survive show no significant developmental gains. For children who survive, treatment is symptomatic.
* * *Presence of a single forebrain hemisphere or lobe; cycloplia occurs in the severest form. It is often accompanied by a deficit in median facial development. [holo- + G. proso, forward, + enkephalos, brain]
* * *holo·pros·en·ceph·a·ly (hōl″o-pros″ən-sefґə-le) [holo- + prosencephalon] failure of cleavage of the prosencephalon resulting in incomplete or absent cortical separation and deficits in midline facial development; usually subdivided into alobar, semilobar, and lobar forms on the basis of degree of lobar separation. Facial dysmorphisms may include cyclopia, micro- or macrocephaly, micro- or anophthalmia, hypo- or hypertelorism, single nostril, and cleft lip or palate. It has a variety of causes, including chromosomal and single-gene disorders and environmental factors, and may occur alone or associated with various syndromes. Nonsyndromic familial forms show genetic heterogeneity, variable expressivity, and variable penetrance; mutations in the Sonic Hedgehog (SHH) gene are a major cause of the nonsyndromic autosomal dominant form.
Lobar holoprosencephaly. MRI scan demonstrates failure of separation of the hemispheres and a persistent fused ventricle.
Medical dictionary. 2011.
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