schizencephaly

Schizencephaly is part of our Brain Malformation Panel (NGS). Click here to access a complete list of the genes covered in this panel. 

 

DESCRIPTION

 

This disorder is an uncommon congenital disorder of cerebral cortical development, characterized by abnormal slits, or clefts (single or bilateral), in the cerebral hemispheres of the brain. The estimated incidence is of 1,5 in 100000 live births.

 

Clinical manifestations depend on the severity and type of the clefts: babies with bilateral clefts usually have developmental and speech delays, as well as problematic brain-spinal cord communication, whereas individuals with unilateral clefts might presend one-sided paralysis but present no intellectual impairment. Other symptoms include seizures, mental retardation, paralysis and deficient muscle tone. Schizencephaly may also be associated to an abnormally small head, mental retardation, partial or complete paralysis, or poor muscle tone.


All of Amplexa's neurology tests can be found in our Neurology Brochure.

neurology