Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
A rare genetic syndrome with a central nervous system malformation as a major feature characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria as well as midline crossing defects thin corpus callosum dysplastic hippocampi narrowing of the brainstem with small pons and midbrain widening of the medulla and small cerebellum. Clinically patients present global developmental delay severe intellectual disability with poor or absent speech axial hypotonia and early-onset seizures among others.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome?
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