Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

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Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse fair scalp hair eyebrows and eyelashes) severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia dilatation of ventricles corpus callosum agenesis Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly frontal bossing midfacial hypoplasia and high arched or cleft palate as well as cryptorchidism feeding difficulties and hypotonia are associated. There have been no further descriptions in the literature since 1998.

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 http://www.orphadata.org. Data version June 2024

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