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

Kleefstra syndrome

Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.

Long philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.

Total: 1

(per page)

PMID (PMCID)
23633410	FEMALE	Infant, Newborn
	Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature.
	la Cour Sibbesen E, Jespersgaard C, Alosi D, Bisgaard AM, Tumer Z. Am J Med Genet A. 2013;161A(6):1447-52.
	The patient has the features of both the Kleefstra syndrome and the chromosome 9p-syndrome, including trigonocephaly, long philtrum, hypertelorism, and retro-/micronagthia.