Fraser Syndrome; Case report and Literature Review

Fraser syndrome is a rare complex autosomal recessive genetic disorder occurring in 11 of every 100,000 live births. The syndrome is characterized by features such as cryptophthalmos, syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. This is a report of a female infant born to non-consanguineous parents with a history of poorly monitored pregnancy complicated by maternal malaria and urinary tract infection. The neonate exhibited classic features of Fraser Syndrome, including bilateral partial cryptophthalmos and musculoskeletal anomalies (Rocker-bottom feet), syndactyly (fused digits) together with multiple congenital heart defects. The case was diagnosed solely on the clinical criteria. Genetic testing was not performed as it had limited availability in Sudan. Clinical investigations and Pelvic abdominal ultrasound were normal. This case could highlight the potential teratogenic effects of poorly managed maternal infections and the importance of comprehensive prenatal care for early detection and management of fetal anomalies, especially in such cases of non-consanguineous parents.