SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/734017008
http://purl.bioontology.org/ontology/SNOMEDCT/734017008
Preferred Name

Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome

Definitions
A rare multiple developmental anomalies syndrome with characteristics of 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 is associated. There have been no further descriptions in the literature since 1998.
Synonyms
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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