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Waardenburg syndrome (vahr�den-boorg) any of several hereditary conditions characterized principally by a combination of ear defects and abnormalities of pigment. There may be pigmentary irregularities of the iris and retinal fundus; a patch of white hair or white eyelashes; leukoderma; and cochlear hearing loss. The underlying cause is disruption of various genes associated with the development, migration, or differentiation of melanocytes and neural crest cells; four types have been distinguished on clinical and genetic bases.

Waardenburg syndrome type 1 an autosomal dominant form in which a person has a wide bridge of the nose.

Waardenburg syndrome type 2 an autosomal dominant form similar to type 1 but caused by a different genetic mutation and not accompanied by the wide bridge of the nose.

Waardenburg syndrome type 3 a form clinically similar to type 1 but caused by a different genetic mutation and further characterized by upper limb defects. Both autosomal dominant and recessive inheritance have been observed. Called also Klein-Waardenburg syndrome.

Waardenburg syndrome type 4 a form clinically similar to type 2 but caused by a different genetic mutation, with accompanying Hirschsprung disease. Both autosomal dominant and recessive subtypes have been found.

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