• Filza Khursheed, Rubbiya Farid, Saba Rafique Qureshi, and Sajid Malik.
• Filza Khursheed, M.Phil, Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan.
• Pak J Med Sci. 2024 Dec 1; 40 (11): 270727142707-2714.

ObjectivesThis 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.MethodA 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.ResultsA 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.ConclusionsMajority 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.Copyright: © Pakistan Journal of Medical Sciences.

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