{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T13:42:05Z","timestamp":1777902125028,"version":"3.51.4"},"reference-count":18,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Science Progress"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>Waardenburg syndrome (WS) is a rare genetic disorder characterized by congenital sensorineural hearing loss and pigmentary abnormalities, accounting for 2\u20135% of congenital deafness. While molecular testing is the diagnostic gold standard, clinical recognition remains crucial in low-resource or conflict-affected environments where specialized services are unavailable. We report a Syrian male in his early 20s who presented to the otorhinolaryngology clinic seeking exemption from military service, citing long-standing right-sided hearing loss. The patient and his family had never pursued medical evaluation for his pigmentary features or hearing problem. Examination revealed a white forelock, heterochromia iridis, synophrys, broad nasal root, and dystopia canthorum (W Index 2.2). Pure-tone audiometry demonstrated severe unilateral sensorineural hearing loss. Systematic neurological, ophthalmological, and musculoskeletal assessments were normal. Due to the lack of access to genetic testing, a clinical diagnosis of WS type I was made, and the patient was referred for genetic counseling. This case highlights diagnostic challenges in conflict-affected, resource-limited settings. Despite striking phenotypic features, the patient remained undiagnosed until adulthood. Missed opportunities included the absence of childhood hearing screening, delayed recognition of pigmentary signs, and a lack of educational or psychosocial support. Literature indicates that phenotypic diagnosis is reliable when multiple major criteria are present, yet diagnostic delays significantly affect quality of life. This report underscores the importance of timely recognition of WS in low-resource contexts. Strengthening primary care awareness, implementing basic audiological and pigmentary screening, and integrating psychosocial support may help mitigate diagnostic delays and improve long-term outcomes for patients with rare genetic disorders.<\/jats:p>","DOI":"10.1177\/00368504261430043","type":"journal-article","created":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T05:41:53Z","timestamp":1772257313000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Delayed diagnosis of Waardenburg syndrome type 1 in a Syrian adult: Challenges and lessons from resource-limited settings, a case report and literature review"],"prefix":"10.1177","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7717-3311","authenticated-orcid":false,"given":"Bilal","family":"Hasan","sequence":"first","affiliation":[{"name":"Military Service Administration Research Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-3456-7025","authenticated-orcid":false,"given":"Zulfiqar","family":"Hamdan","sequence":"additional","affiliation":[{"name":"Damascus University Faculty of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gharam","family":"Sliman","sequence":"additional","affiliation":[{"name":"Military Service Administration Research Center"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,2,27]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.656"},{"key":"e_1_3_3_3_2","volume-title":"GeneReviews(\u00ae)","author":"Milunsky JM","year":"1993","unstructured":"Milunsky JM. Waardenburg Syndrome Type I. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A (eds) GeneReviews(\u00ae). Seattle, WA: University of Washington, Seattle, 1993. Copyright \u00a9 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved."},{"key":"e_1_3_3_4_2","first-page":"195","article-title":"A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness","volume":"3","author":"Waardenburg PJ","year":"1951","unstructured":"Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 1951; 3: 195\u2013253.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_3_5_2","first-page":"38","article-title":"Albinisme partiel (leucisme) avec surdi-mutite, blepharophimosis et dysplasie myo-osteo-articulaire","volume":"5","author":"Klein D","year":"1950","unstructured":"Klein D. Albinisme partiel (leucisme) avec surdi-mutite, blepharophimosis et dysplasie myo-osteo-articulaire. Helv Paediatr Acta 1950; 5: 38\u201358.","journal-title":"Helv Paediatr Acta"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/1752-1947-7-223"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.7205\/MILMED-D-14-00430"},{"key":"e_1_3_3_8_2","first-page":"1","article-title":"Blue-eyed Asian: a case report of Waardenburg syndrome type 1","volume":"5","author":"Acluba KZB","year":"2016","unstructured":"Acluba KZB, Agahan A. Blue-eyed Asian: a case report of Waardenburg syndrome type 1. Ophthal Res 2016; 5: 1\u20135.","journal-title":"Ophthal Res"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1177\/000348949710600307"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21211"},{"key":"e_1_3_3_11_2","first-page":"455","article-title":"Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)","volume":"52","author":"Hoth CF","year":"1993","unstructured":"Hoth CF, Milunsky A, Lipsky N, et al. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet 1993; 52: 455\u2013462.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-251"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.3.205"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991105)87:1<69::AID-AJMG14>3.0.CO;2-R"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1086\/522090"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.25.3231"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13256-018-1704-1"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12631"},{"key":"e_1_3_3_19_2","first-page":"879","article-title":"Waardenburg syndrome type 2: an orthodontic perspective","volume":"56","author":"\u015euhani RD","year":"2015","unstructured":"\u015euhani RD, \u015euhani MF, Muntean A, et al. Waardenburg syndrome type 2: an orthodontic perspective. Rom J Morphol Embryol 2015; 56: 879\u2013883.","journal-title":"Rom J Morphol Embryol"}],"container-title":["Science Progress"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/00368504261430043","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/00368504261430043","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/00368504261430043","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T11:20:16Z","timestamp":1777634416000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/00368504261430043"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1177\/00368504261430043"],"URL":"https:\/\/doi.org\/10.1177\/00368504261430043","relation":{},"ISSN":["0036-8504","2047-7163"],"issn-type":[{"value":"0036-8504","type":"print"},{"value":"2047-7163","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"article-number":"00368504261430043"}}