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.
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.
Newly diagnosed with
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome?
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National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.