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ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

MONDO:0009149

Also known as:ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum

Overview

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.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome.

11 publications have been identified in PubMed for ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome. Research spans Review / Meta-Analysis (55%), Case Report / Case Series (27%), and Basic Science / Preclinical (9%).

Research Type	Count	% of Total
Research summaries	6

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 7:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:225040

Orphanet

European rare disease database

Orphanet:1812

GARD

Genetic and Rare Diseases Info Center

GARD:16578

Questions for Your Care Team

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ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

Overview

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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