Epidemiology of congenital anomalies in the Kurram Tribal Agency, northwest Pakistan

Abstract Background We know of no study reporting hereditary and congenital anomalies (CA) prevalent among northwestern populations in the Federally Administered Tribal Areas (FATA) of Pakistan, a region of war and geopolitical unrest. Objectives To determine and report the epidemiology of CA in the Kurram Tribal Agency in northwest Pakistan. Methods A cross-sectional clinical and genetic epidemiological study was conducted in relatively safe pockets of the Kurram Agency of FATA and individuals or families with CA were randomly recruited through door-to-door surveys and visiting public places like the Jirgah and hospitals. Results This study ascertained 246 independent families or individuals with CA. They were grouped into 9 major and 49 minor phenotypic categories. Among the major categories, neurological disorders were the most frequent (n = 83; proportion = 0.337; CI = 0.278,0.397), followed by musculoskeletal defects (n = 56), limb anomalies (n = 52), sensorineural/ear defects (n = 18), ectodermal anomalies (n = 11), congenital heart defects (n = 10), and eye/visual impairments (n = 6). Sporadic occurrence of anomalies was more frequent than familial occurrence (169 vs. 77), and isolated presentations were more common than syndromic appearance (170 vs. 76). The distribution of various ascertainment types (e.g. sex-wise, familial/sporadic, isolated/syndromic presentations), with demographic variables such as age, origin, ethnicity, education, family type, and parental consanguinity were mostly not significant. Conclusions Neurological disorders were the most frequent type of congenital anomalies in the Kurram Federal Tribal Agency of Pakistan.