Hidrotic ectodermal dysplasia, Halal type
Synonyms: Halal-Setton-Wang syndrome | Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome
Hidrotic ectodermal dysplasia Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia with absent eyebrows and eyelashes onychodysplasia mild retrognathia abnormal dermatoglyphics (excess of whorls on fingertips radial loop on finger hypothenar pattern) intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears mild hearing loss supernumerary nipple café-au-lait spots keratosis pilaris and irregular menses. To date four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia Halal type is inherited in an autosomal recessive manner.
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 April 2024
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
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
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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