Short-rib thoracic dysplasia 9 with or without polydactyly

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.

Also known as: Conorenal syndrome, Mainzer Saldino syndrome, Mainzer-Saldino syndrome, SRTD9, Saldino-Mainzer syndrome, renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome, short-rib thoracic dysplasia 9 with or without polydactyly, renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia

53 clinical trials for this condition and its sub-types.