{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T12:09:47Z","timestamp":1778328587562,"version":"3.51.4"},"reference-count":0,"publisher":"Pakistan Journal of Medical Sciences","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pak J Med Sci"],"abstract":"<jats:p>Objectives: This study was aimed to elucidate the prevalence-pattern of congenital and hereditary anomalies (CA) in the population of Azad Jammu and Kashmir (AJK), which is a logistically difficult area in the north-east of Pakistan and in the foot-hills of Himalayas.\r\nMethod: A cross-sectional clinico-epidemiological study was carried out during 2018-2020 in three districts of AJK and individuals\/families with CA were recruited from hospitals, public places and through door-to-door surveys. The anomalies were classified with the help of specialized clinicians and their definitions were sought from OMIM and ICD-10 databases. Descriptive statistics was employed.\r\nResults: A total of 1193 independent individuals\/families with certain type of CA were included. The CA were categorized into 10 major and 85 minor entities. Among the major categories, neurological disorders had the highest representation (n=403; proportion: 0.338; 95%-CI: 0.311-0.365), followed by limb defects (n=362; prop.: 0.303; 95%-CI: 0.277-0.330), sensorineural defects (n=187; prop.: 0.157; 95%-CI: 0.136-0.177), musculoskeletal disorders (n=64), visual impairments (n=64), ectodermal disorders (n=40), orofacial disorder (n=34), blood disorder (n=11), metabolic disorders (n=8), and others (n=20). The anomalies with sporadic presentations were twice as common as familial cases, and there was remarkably high preponderance of isolated cases compared to syndromic presentations (82% vs. 18%, respectively). The parental consanguinity was observed in 63% cases and was statistically significantly higher in familial cases compared to sporadic.\r\nConclusions: Majority of the anomalies observed in this cohort are of severe nature rendering high morbidity burden on the population and require early detection, intervention and management.\r\ndoi: https:\/\/doi.org\/10.12669\/pjms.40.11.8687\r\nHow to cite this: Khursheed F, Farid R, Qureshi SR, Malik S. Burden of congenital and hereditary anomalies in the population of Azad Jammu and Kashmir, Pakistan. Pak J Med Sci. 2024;40(11):2707-2714. doi: https:\/\/doi.org\/10.12669\/pjms.40.11.8687\r\nThis is an Open Access article distributed under the terms of the Creative Commons Attribution License (http:\/\/creativecommons.org\/licenses\/by\/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.<\/jats:p>","DOI":"10.12669\/pjms.40.11.8687","type":"journal-article","created":{"date-parts":[[2024,11,21]],"date-time":"2024-11-21T17:46:50Z","timestamp":1732211210000},"page":"2707-2714","source":"Crossref","is-referenced-by-count":1,"title":["Burden of congenital and hereditary anomalies in the population of Azad Jammu and Kashmir, Pakistan"],"prefix":"10.12669","volume":"40","author":[{"given":"Filza","family":"Khursheed","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rubbiya","family":"Farid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saba Rafique","family":"Qureshi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sajid","family":"Malik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"4935","published-online":{"date-parts":[[2024,11,21]]},"container-title":["Pakistan Journal of Medical Sciences"],"original-title":[],"link":[{"URL":"https:\/\/pjms.org.pk\/index.php\/pjms\/article\/download\/8687\/2479","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/pjms.org.pk\/index.php\/pjms\/article\/download\/8687\/2479","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T11:32:38Z","timestamp":1778326358000},"score":1,"resource":{"primary":{"URL":"https:\/\/pjms.org.pk\/index.php\/pjms\/article\/view\/8687"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,21]]},"references-count":0,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2024,11,20]]}},"URL":"https:\/\/doi.org\/10.12669\/pjms.40.11.8687","relation":{},"ISSN":["1681-715X","1682-024X"],"issn-type":[{"value":"1681-715X","type":"electronic"},{"value":"1682-024X","type":"print"}],"subject":[],"published":{"date-parts":[[2024,11,21]]}}}