{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T08:58:15Z","timestamp":1791968295145,"version":"4.3.4"},"reference-count":14,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,3,24]],"date-time":"2014-03-24T00:00:00Z","timestamp":1395619200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Edimer Pharmaceuticals\/ funding for registry"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>The web\u2010based Ectodermal Dysplasia International Registry (EDIR) is a comprehensive patient\u2010reported survey contributing to an understanding of ectodermal dysplasia (ED). XLHED is the most common of the genetic ED syndromes and was the primary diagnosis reported by 223\/835 respondents (141 males and 82 females). Overall, 96% of XLHED registrants reported as least one other affected family member and 21% reported a family history of infant or childhood deaths, consistent with the published mortality data in this disorder. In general, XLHED is diagnosed by the triad of decreased sweating, reduced hair, and hypodontia (present in 89%, 74%, and 74% of XLHED respondents). Additionally, the registry dataset confirmed a spectrum of life\u2010long XLHED clinical complications including recurrent sinus infections (49% males, 52% females), nasal congestion often foul smelling and interfering with feeding (73% males, 27% females), eczema (66% males, 40% females), wheezing (66% males, 45% females), and a hoarse, raspy voice (67% males, 23% females). The Registry results also highlighted features consistently differentiating XLHED from the non\u2010hypohidrotic ED syndromes including the frequency of infant\/childhood deaths, the presence of limb\/digit abnormalities, feeding issues related to nasal discharge, dentures, and a diagnosis of asthma.<\/jats:p><jats:p>These results represent the largest collection of data on a broad\u2010spectrum of health\u2010related issues affecting ED patients. This project provides information for expanding knowledge of the natural history of XLHED, and as such may facilitate the diagnosis and treatment of its varied and lifelong medical challenges. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36436","type":"journal-article","created":{"date-parts":[[2014,3,25]],"date-time":"2014-03-25T02:54:17Z","timestamp":1395716057000},"page":"2437-2442","source":"Crossref","is-referenced-by-count":44,"title":["X\u2010linked hypohidrotic ectodermal dysplasia (XLHED): Clinical and diagnostic insights from an international patient registry"],"prefix":"10.1002","volume":"164","author":[{"given":"Mary","family":"Fete","sequence":"first","affiliation":[{"name":"National Foundation for Ectodermal Dysplasia Mascoutah Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Hermann","sequence":"additional","affiliation":[{"name":"Edimer Pharmaceuticals Inc. 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