In a previous study, homozygous or compound heterozygous mutations in IFT172 were detected in 12 families with affected individuals diagnosed with asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome) or Mainzer-Saldino syndrome (MZSDS). Here, IFT172 is linked to short-rib thoracic dysplasia 9 with or without polydactyly.