ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome https://www.malacards.org/card/ectodermal_dysplasia_hypohidrotic_with_hypothyroidism_and_agenesis_of_the_corpus_callosum https://www.malacards.org/card/ectodermal_dysplasia_intellectual_disability_central_nervous_system_malformation_syndrome 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. UMLS:C1857053 MONDO:0009149 Orphanet:1812 MESH:C565605 MEDGEN:347363 OMIM:225040 GARD:0016578 ectodermal dysplasia syndrome