GTR Home > Conditions/Phenotypes > SCHIZENCEPHALY

Summary

Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness. Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see 236100). [from GTR]

Available tests

32 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: , EMX2
    Summary: empty spiracles homeobox 2

  • Also known as: HHG1, HLP3, HPE3, MCOPCB5, SMMCI, TPT, TPTPS, SHH
    Summary: sonic hedgehog

  • Also known as: HPE2, SIX3
    Summary: SIX homeobox 3

Clinical features

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