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General: Irregular dominant inheritance; developmental fault in neural crest with absence of the organ of Corti, aplasia of the spiral ganglion, and pigmentary changes; no sex preference; onset at birth.

Ocular: Hyperplasia of the medial portions of the eyebrows; hypertelorism; blepharophimosis; strabismus; heterochromia iridis; aniridia; microcornea; cornea a; microphakia; abnormal fundus pigmentation; hypoplasia of optic nerve; synophrys; poliosis; hypopigmentation and hypoplasia of retina and choroid; epicanthus; lateral displacement of inferior puncta; lenticonus; underdevelopment of orbital bones; lateral displacement of inner canthi; hypopigmented iris.

Clinical: Congenital deafness; unilateral deafness or deaf-mutism; broad and high nasal root with absent nasofrontal angle; albinotic hair strain (unilateral); faint patches of skin pigmentation; pituitary tumor; nasal atresia; white forelock.

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Goldberg ME Waardenburg's syndrome with fundus and other anomalies. Arch Ophthalmol 1966; 76:797.

Hayasaka S, et al. Waardenburg syndrome in Japanese patients. Case reports and literature review. Ophthalmologica 1992; 205:46-51.

Holmstrom H, Santanelli E Waardenburg's syndrome. Report of a case with nasal atresia, Scand J Plast Reconstr Surg Hand Surg 1991; 25:181-l82.

Kimura H, et al. Waardenburg's syndrome and pituitary tumor. Acta Ophthalmol 1994; 72:642-644.

Waardenburg PJ. A new syndrome combining development anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head and with congenital defects. Am J Hum Genet