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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, retinitis pigmentosa, 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 skin laxity. Some patients have been reported with renal failure due to nephronophthisis or hepatic failure. CED is also known as Sensenbrenner syndrome. CED is known to be caused by mutations in at least four genes, IFT122, WDR35, IFT43 and WDR19. Mutations in IFT122 cause CED1 (MIM 218330), while mutations in WDR35, IFT43 and WDR19 cause CED2 (MIM 613610), CED3 (MIM 614099) and CED4 (MIM 614378), respectively. The products of these genes are components of cilia. Autosomal recessive mutations in WDR35 also cause short rib-polydactyly syndrome, type V (SRPS5; MIM 614091), and mutations in WDR19 cause asphyxiating thoracic dystrophy 5 (ATD5; MIM 614376), disorders sharing many phenotypic findings with CED and other ciliopathies.