Mainzer – Saldino syndrome or Cono – renal syndrome describes the association of cone shaped phalangeal epiphyses and nephronophthisis. In some patients retinitis pigmentosa, ataxia and hepatic fibrosis have been described. Underlying gene mutations have been found in genes responsible for the intraflagellar transport in primary cilia. This syndrome is inherited in an autosomal – recessive manner and belongs together with Jeune asphyxiating thoracic dysplasia, Ellis van Creveld and Sensenbrenner syndrome to the group of short rib polydactyly syndromes (short rib thoracic dysplasia with or without polydactyly)


Mainzer – Saldino syndrome – summary
  • Cono – renal Syndrome
  • short-rib thoracic dysplasia with or without polydactyly
main symptoms
  • cone shaped phalangeal epiphyses
  • Nephronophthisis
additional findings
  • retinitis pigmentosa
  • ataxia
  • hepatic fibrosis
  • mental Retardation
  • short stature
manifestation neonatal
frequency <1 : 1.000.000
inheritance autosomal – recessive
pathogenesis Underlying mutations lead to defects of the intraflagellar transport of primary cilia.
progress and prognosis very variable phenotype depending on affected organs.
treatment No causal treatment available. A multidisciplinary care is needed.

Known genes for Mainzer – Saldino syndrome to date
syndrome gene Gene/Locus MIM number
1 SRPS 9 IFT140 614620
2 SRPS 10 IFT172 607386