Waardenburg syndrome

Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.

Gait disturbance

The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.


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PMID (PMCID)
3438055
MALE Child
Waardenburg syndrome: a variant with neurological involvement.
Kawabata E, Ohba N, Nakamura A, Izumo S, Osame M.
Ophthalmic Paediatr Genet. 1987;8(3):165-70.
A 13-year-old boy with features of Waardenburg syndrome consisting of facial anomalies, heterochromia of the iris and fundus, and congenital sensorineural deafness had a marked mental and motor retardation and developed severe gait disturbance associated with neurological abnormalities including dystonia, muscular stiffness and peripheral neuropathy.