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

Cranioectodermal dysplasia

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

Short ribs

Reduced rib length.

Total: 1

(per page)

PMID (PMCID)
22987818 (4000731)	MIXED_SAMPLE	Infant
	WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.
	Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE. Am J Med Genet A. 2012;158A(11):2917-24.
	Mutations in WDR35 were identified recently in a sub-group of patients with Sensenbrenner syndrome and in a single family that presented with an unclassified form of short-rib polydactyly (SRP) syndrome.