Genetic Hearing Loss Associated with Integumentary Disorders

Abstract The most characteristic features of Waardenburg syndrome (WS) are widely spaced medial canthi (dystopia canthorum), broad nasal root, and confluent eyebrows (synophrys). Patients frequently have variably colored irides as well as a white forelock. Although certain aspects of this disorder were described by Hammerschlag (42) in 1905, van der Hoeve (I 18) in 1916, and Mende (77) in 1926, the syndrome was first well defined by Waardenburg in 1948 (121,122). Waardenburg (122) estimated that 1.4% of those with profound hearing loss in The Netherlands had this syndrome. DiGeorge et al. (24) suggested that about 2.3% of those with congenital hearing loss have Waardenburg syndrome. It is possible that the actual frequency is twice this estimate, since only about 50% have ocular and/or pigmentation anomalies. Waardenburg syndrome has been divided into four types, depending on the phenotype and presence of additional features.