Objective　Mainzer-Saldino syndrome (MSS) is a rare nephronophthisis associated ciliopathy with skeletal dysplasia. This study is aim to summarize the clinical features and genetic analysis of a child with IFT140 mutation-associated MSS. Related literatures were reviewed. Methods　Clinical data and blood sample of the proband were collected, and Whole-exome sequencing and bioinformatics analysis were performed. Results　The child was a 5-year-old female, and she was firstly noticed with amblyopia at 3 years old. At the age of 5 years and 8 months, she was found to have anemia and was on the end stage renal disease. Retinal degeneration and cone-shape phalanges were revealed. Genetic testing identified a homozygous mutation of c.634G>A (p.G212R) in IFT140, which was predicted to be pathogenic. The mutations were inherited from her parents. Conclusion　MSS has characteristic clinical manifestations, and genetic testing is helpful to confirm the diagnosis of MSS.