Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

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.

Central hypoventilation

Total: 1

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PMID (PMCID)
27633379 (5025624)	FEMALE	Infant, Newborn
	Hirschsprung's disease associated with alopecia universalis congenita: a case report.
	Malik S, Singhal M, Jadhav SS, Korday CS, Nayak CS. J Med Case Rep. 2016;10(1):250.
	In other cases it may be associated with syndromes (such as Down's syndrome, Waardenburg syndrome, congenital central hypoventilation, or cartilage-hair hypoplasia) or with a spectrum of congenital anomalies involving neurological, cardiovascular, or urological systems or with sensorineural anomalies.