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Citation:
Bell D, Mainzer-Saldino syndrome. Reference article, Radiopaedia.org (Accessed on 07 Mar 2025) https://doi.org/10.53347/rID-66366
Mainzer-Saldino syndrome (also known as conorenal syndrome (CRS)) is a rare condition and is one of the ciliopathies. It is due to mutations in the IFT140 gene, whose protein product is one of the six parts of the intraflagellar transport complex A.
The syndrome's key characteristics are:
- phalangeal cone-shaped epiphyses
- chronic renal failure
- premature, severe retinal dystrophy
- proximal femoral radiographic abnormality
In some patients also:
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1. Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. (2012) American journal of human genetics. 90 (5): 864-70. doi:10.1016/j.ajhg.2012.03.006 - Pubmed
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