Cranioectodermal dysplasia 2 (CED2)

Cranioectodermal dysplasia 2

Cranioectodermal dysplasia (CED) is an autosomal recessive ciliopathy characterized by sagittal craniosynostosis, skeletal, facial and ectodermal abnormalities.  Findings typically include: dolichocephaly,  hypertelorism, frontal and occipital bossing, telecanthus, epicanthal folds or narrow palpebral fissures, low set ears, everted lower lip, fine sparse hair, dental abnormalities consisting of hypoplastic, widely spaced or fused teeth, short limbs, brachydactyly, narrow chest with short ribs, and bilateral inguinal hernia.  Some patients have been reported with renal or hepatic failure.  CED is also known as Sensenbrenner syndrome.  CED is known to be caused by mutations in at least two genes, WDR35 and IFT122.  Mutations in WDR35 cause CED2 (MIM 613610) and mutations in IFT122 cause CED1 (MIM 218330).  The products of both genes are components of cilia.  Autosomal recessive mutations in WDR35 also cause short rib-polydactyly syndrome, type V (MIM 614091), a disorder sharing many phenotypic findings with CED and other ciliopathies.