Burden of congenital and hereditary anomalies in the war-affected territory at Pakistan-Afghanistan border.

Background: Pashtun populations of Pakistan are the victim of long-lasting military combats, rendering 1.9 million inhabitants internally displaced. Studies highlighting congenital and hereditary anomalies in these populations are deficient.

Objectives: To elucidate the spectrum anomalies in the north-western war-affected territories of Pakistan.

Methods: A cross-sectional study was carried out from 2017 to 2019 and individuals or families with anomalies were ascertained through convenience and cluster random sampling. Phenotypic and pedigree data and information on bio-demographic variables were collected. Descriptive statistics were applied.

Results: A total of 361 independent individuals or families with anomalies were recruited. The anomalies were grouped into 8 major and 72 minor entities. Among major categories, neurological disorders had the highest representation (n = 100; proportion: 0.277; 95% CI: 0.231-0.323), followed by sensorineural defects (n = 70; prop.: 0.194), limb defects (n = 60; prop.: 0.166), visual impairments (n = 55; prop.: 0.152), and musculoskeletal defects (n = 37; prop.: 0.102). Among the neurological disorders, intellectual disability had the highest occurrence (58%), whereas talipes and limb amputations were the most prominent in limb defects (22% and 20%, respectively). The anomalies had sporadic and isolated presentations most often (76% each), while parental consanguinity was observed in 34% of index cases.

Conclusions: The high incidence of neurological, sensorineural, and limb defects, the preponderance of sporadic cases, and low level of parental consanguinity may indicate a potentially high contribution of nongenetic factors in the etiology of anomalies. The majority of anomalies are the cause of severe disability.