Waardenburg's syndrome: A syndrome of heterochromia of the irides, lateral displacement of the medial canthi and lacrimal puncta, congenital deafness, and other characteristic associated defects

Abstract

Summary 1. Individuals with Waardenburg's syndrome, including the first reported instances in the Negro race, have been presented. 2. This syndrome consists of: A. Lateral displacement of the medial canthi of the eyes and of the lacrimal puncta. B. A hyperplastic, broad nasal root. C. Hyperplasia of the medial portions of the eyebrows. D. Partial or total heterochromia iridum or isochromic, hypoplastic blue irides. E. Congenital deafness or varying degrees of partial deafness. F. White (or gray) forelock. 3. The syndrome is genetically determined and transmitted in an autosomal dominant manner with varying degrees of penetrance of the individual characteristics. 4. Possible additional characteristics of the syndrome have been discussed. These include premature graying of the hair; abnormal depigmentation of the skin; pigmentary changes of the fundi and a characteristic facial appearance. 5. It has been roughly estimated that 2.0 per cent of congenital deafness in the United States may result from this disorder. 6. A summary of the pertinent literature relative to the occurrence of defects of pigmentation and deafness in man and in animals has been presented.