Craniotelencephalic dysplasia

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Alternate names[edit]

Complex of anomalies involving the cranium and brain

Definition[edit]

Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.

NIH genetic and rare disease info[edit]

Craniotelencephalic dysplasia is a rare disease.

Rare and genetic diseases

Rare diseases - Craniotelencephalic dysplasia

A-Z list of rare diseases
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