IFAP syndrome with or without BRESHECK syndrome

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IFAP syndrome with or without BRESHECK syndrome2016-11-26T06:19:16+00:00

IFAP syndrome with or without BRESHECK syndrome

GENETICS

Definition An über rare–10 cases in the world literature–condition (OMIM:308205) characterised by follicular ichthyosis, atrichia and photophobia, as well as short stature, seizures, and recurring respiratory tract infections. 

Molecular pathology Defects in MBTPS2, a membrane-bound zinc metalloprotease required for cholesterol homeostasis and endoplasmic reticulum–stress response, cause IFAP syndrome with or without BRESHECK

Synonyms Ichthyosis follicularis—atrichia—and photophobia with or without brain anomalies—retardation—ectodermal dysplasia—skeletal malformations—Hirschsprung disease—ear/eye anomalies—cleft palate/cryoptorchidism—and kidney dysplasia/hypoplasia, ichthyosis follicularis with alopecia and photophobia syndrome

References http://www.omim.org/entry/308205

Am J Hum Genet 2009; 84:459-467, 10 April 2009 

doi:10.1016/j.ajhg.2009.03.014

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