Mainzer-Saldino syndrome

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:

• short stature
• cerebellar ataxia
• hepatic fibrosis