Craniotelencephalic dysplasia

MONDO:0009042

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.

Also known as: craniotelencephalic dysplasia, Complex of anomalies involving the cranium and brain

1 clinical trial for this condition and its sub-types, 0 tagged with Craniotelencephalic dysplasia itself.

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Where it sits in the disease tree

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↑ Syndromic craniosynostosis (22) ↑ Lissencephaly spectrum disorders (0)

Including sub-types (1) Tagged with Craniotelencephalic dysplasia (0)

Trials to join now! 1

Nano-ink gel could replace repeated skull surgeries for kids with rare genetic disorders

Disease control Recruiting now

This early-stage study aims to develop a personalized treatment for children with syndromic craniosynostosis, a group of rare genetic disorders where skull bones fuse too early. The approach uses a nano-engineered gel to deliver custom genetic medicine directly to the affected ar…

Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS • Aim: Disease control

Last updated Sep 10, 2026 00:00 UTC

Craniotelencephalic dysplasia

Where it sits in the disease tree

Nano-ink gel could replace repeated skull surgeries for kids with rare genetic disorders