Craniotelencephalic dysplasia

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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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

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