ABSTRACT
This chapter tries to get to grips with the terminology, what to do when faced with a child who is known to have a particular syndrome and finally what the general otolaryngologist needs to know about some of the commoner syndromes in paediatric otolaryngology practice. Systematic management involves assessment of otological manifestations and airway manifestations. Down syndrome is a common and easily recognizable disorder with familiar phenotype and genotype. A female child of short stature with a history of ear infections should make one alert to the possibility of Turner syndrome. 22q11 deletion syndrome encompasses the clinical conditions previously termed velocardiofacial syndrome and Di George syndrome which are now known to be different manifestations of the same genetic defect. The mucopolysaccharoidoses comprise a group of conditions that result from the deficiency of lysosomal enzymes causing the accumulation of glycosamino-glycans in tissues. CHARGE syndrome is an autosomal dominant genetic disorder typically caused by mutations in the chromodomain helicase DNA-binding protein-7 gene.
