The currently recognized spectrum of IFT-B disorders is complex and covers multiple ciliopathy phenotypes, with skeletal involvement including asphyxiating thoracic dystrophy (ATD, Jeune syndrome) and short-rib thoracic dysplasias (short rib polydactylies) that occur with/or without polydactyly and kidney disease (fibrosis, nephronophthisis, Mainzer–Saldino syndrome), along with variable cardiac, hepatic (cholestasis, fibrosis), or retinal involvement (IFT52, TRAF3IP1/IFT54, IFT56, IFT74, IFT80, IFT81, IFT172 mutations). Here, IFT172 is linked to Jeune syndrome.