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

Cockayne syndrome

Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.

Cachexia

Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.

Total: 1

(per page)

PMID (PMCID)
25154231	MALE	Child
	[Clinical examination of renal function in Cockayne syndrome].
	Motojima T, Sugita K, Omata T, Fujii K. No To Hattatsu. 2014;46(4):311-4.
	Cockayne syndrome (CS) is a rare hereditary disease, characterized by profound postnatal brain and somatic growth failure and by the degeneration of multiple tissues resulting in cachexia, dementia, and premature aging.