hidrotic ectodermal dysplasia, Halal type
Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome 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, cafC)-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.
MONDO:0019287
ectodermal dysplasia syndrome
is_a
Halal Setton Wang syndrome
related
Halal-Setton-Wang syndrome
exact
ectodermal dysplasia with skin anomalies and intellectual disability
exact
hidrotic ectodermal dysplasia Halal type
related
trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome
exact