Preferred Label : Schizencephaly;
Type : Phenotype, molecular basis known;
Description : 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).;
Prefixed ID : #269160;
Origin ID : 269160;
UMLS CUI : C0266484;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
