Burden of congenital and hereditary anomalies in the population of Azad Jammu and Kashmir, Pakistan.

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.

Method: 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.

Results: 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.

Conclusions: 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.