Synonyms: Cerebellotrigeminal-dermal dysplasia syndrome | Craniosynostosis-alopecia-brain defect syndrome
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis) cranial nerves (trigeminal anesthesia) and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis midfacial hypoplasia bilateral corneal opacities low-set ears short stature moderate intellectual impairment and ataxia. Hyperactivity depression self-injurious behaviour and bipolar disorder have also been reported.
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 September 2023.
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