Hidrotic ectodermal dysplasia, Halal type

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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 March 2024

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