Down syndrome (DS) is the most comm

Down syndrome (DS) is the most common chromosomal abnormality which results in extra genetic material from chromosome 21. Its incidence in Saudi Arabia is reported to be 1 in 554 live births. Otolaryngologic problems are common in children with DS. Early detection and intervention of such problems have led to decrease incidence of hearing loss, and better awareness of breathing disorders in DS patients. Aims: This work aims to enlist the common significant otolaryngological problems in Saudi DS patients attending the Genetic Clinic in King Abdulaziz University Hospital, in Jeddah, and focus lights on early intervention and management of such problems. Methodology: A prospective study included all patients attending the DS clinic of the department of genetic medicine at King Abdulaziz University Hospital (KAUH), Jeddah, between October 2007 and October 2011. Each patient underwent full history & physical evaluations, dysmorphologic assessment and anthropometric measurements. Diagnosis was cytogenetically and/or clinically proven. All patients were subjected to ENT and hearing assessments. Results: A total of 130 patients (59% males and 41% females) with ages ranging between 0-33 years (mean = 5 ± 4.9) were included. Most of the patients 90.9% had trisomy 21 due to non-disjunction, 5.05% due to Robertsonian translocation and 4.04% had mosaic DS. ENT abnormalities were detected in 90/130 (69.3%) patients. External ear canal stenosis (40%), adenoid hypertrophy(33.3%) and tonsillar hypertrophy(32.2%) were the most common presenting anomalies, followed by otitis media with effusion(18%) and abnormal tympanogram(18%). Hearing loss were detected in (12.2%). Conclusion: This study showed that ENT anomalies are one of the most common problems associated with DS in Jeddah. All patients with DS should be evaluated for otolarygologic anomalies with complete examination and investigations for further proper intervention.