Diseases associated with the WRD35 gene variants belong to a group of disorders collectively known as ciliopathies. Ciliopathies are caused by cilia dysfunction and are multiorgan disorders usually affecting kidney, liver, eye, heart, and skeleton. It is due to presence of cilia in most of the human cell types. Clinical features of patients with WDR35 defects include short stature, dolichocephaly, epicanthus, narrow chest, limb shortening, brachydactyly, postaxial polydactyly, syndactyly, and ectodermal abnormalities (small teeth, dental fusion, sparse eyebrows) and renal insufficiency. Liver disease, retinal dystrophy, and intellectual disability might be also present in patients with WDR35 changes.
Prevalence: CED2, SRDT7 (including JATD, and EvC ) are rare disorders. The exact frequency is unknown. To date fewer than 100 patients with WDR35 variants have been described in the literature.
WDR35