Spectrum and Epidemiology of Congenital and Hereditary Anomalies Among Mianwali Population of Pakistan

Background and Aims: Congenital anomalies (CA) are a significant cause of childhood disability in Pakistan, although no population-based data is available in the Mianwali region. The purpose of this study was to report the spectrum and epidemiology of CA in the Mianwali population, Pakistan. Methods: The study used a cross-sectional epidemiological design, with data collected from September 2024 to July 2025. Data collection methods included door-to-door visits, hospital-based surveys and snowball sampling. Diagnoses were confirmed by paediatricians, classified according to Online Mendelian Inheritance in Man (OMIM) and International Classification of Diseases (ICD-10) and standardised using the Human Phenotype Ontology (HPO). Descriptive statistics were used for analysis. Results: A total of 819 index cases (60% males) from independent families were recruited. This spectrum contained seven major and 83 minor categories of CA. The spectrum was mainly dominated by neurological disorders (30%), sensorineural/ear defects (24%) and neuromuscular anomalies (20%). The most common single entities were intellectual disability (23%), deaf-mutism (22%) and cerebral palsy (17%). Familial cases were less than sporadic cases (76%) and parental consanguinity was 62%. There were marked disparities in CA distribution between age groups, maternal tongue and socioeconomic status. Conclusions: The range of CA in Mianwali is broad, and the most prevalent ones are neurological disorders, sensorineural/ear defects and neuromuscular anomalies. These results will give the necessary background information to subsequent studies and interventions in the area.