Waardenburg syndrome (WS) is a rare genetic disorder characterized by congenital sensorineural hearing loss and pigmentary abnormalities, accounting for 2-5% of congenital deafness. While molecular testing is the diagnostic gold standard, clinical recognition remains crucial in low-resource or conflict-affected environments where specialized services are unavailable. We report a Syrian male in his early 20s who presented to the otorhinolaryngology clinic seeking exemption from military service, citing long-standing right-sided hearing loss. The patient and his family had never pursued medical evaluation for his pigmentary features or hearing problem. Examination revealed a white forelock, heterochromia iridis, synophrys, broad nasal root, and dystopia canthorum (W Index 2.2). Pure-tone audiometry demonstrated severe unilateral sensorineural hearing loss. Systematic neurological, ophthalmological, and musculoskeletal assessments were normal. Due to the lack of access to genetic testing, a clinical diagnosis of WS type I was made, and the patient was referred for genetic counseling. This case highlights diagnostic challenges in conflict-affected, resource-limited settings. Despite striking phenotypic features, the patient remained undiagnosed until adulthood. Missed opportunities included the absence of childhood hearing screening, delayed recognition of pigmentary signs, and a lack of educational or psychosocial support. Literature indicates that phenotypic diagnosis is reliable when multiple major criteria are present, yet diagnostic delays significantly affect quality of life. This report underscores the importance of timely recognition of WS in low-resource contexts. Strengthening primary care awareness, implementing basic audiological and pigmentary screening, and integrating psychosocial support may help mitigate diagnostic delays and improve long-term outcomes for patients with rare genetic disorders.
Hasan et al. (Thu,) studied this question.