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.

Peripheral neuropathy

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.

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PMID (PMCID)
18348267	MALE
	A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease.
	Sznajer Y, Coldea C, Meire F, Delpierre I, Sekhara T, Touraine RL. Am J Med Genet A. 2008;146A(8):1038-41.
	Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, deafness, mental retardation, peripheral neuropathy, and Hirschsprung disease.
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.