Syndromes caused by mutations in the WDR35 gene are multisystem disorders characterized by short stature, dolichocephaly, epicanthus, narrow chest, limb shortening, brachydactyly, postaxial polydactyly, syndactyly, and ectodermal abnormalities (small teeth, dental fusion, sparse eyebrows). Renal insufficiency is a common feature that often leads to end-stage renal disease (ESRD) in infancy/childhood. ESRD is a major cause of morbidity and mortality in affected individuals. Liver disease, retinal dystrophy, and intellectual disability might be also present in patients with WDR35 changes.
WDR35