Mainzer-Saldino syndrome

Dr Daniel J Bell et al.

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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Article information

rID: 66366
Section: Syndromes
Synonyms or Alternate Spellings:
  • Conorenal syndrome (CRS)

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