Saldino-Mainzer syndrome

Saldino-Mainzer syndrome, also known as Mainzer-Saldino syndrome or conorenal syndrome, is a rare autosomal recessive multisystem disorder classified among the ciliopathies. It is characterized by a distinctive combination of skeletal, renal, and ocular abnormalities. The hallmark skeletal feature is cone-shaped epiphyses of the phalanges (particularly in the hands), which can be detected on X-ray during childhood. Progressive nephronophthisis (a chronic tubulointerstitial kidney disease) is a major feature and often leads to end-stage renal disease, typically in childhood or adolescence. Retinal dystrophy, specifically a pigmentary retinopathy (similar to retinitis pigmentosa), is another key feature that can cause progressive visual impairment. Some patients may also develop cerebellar ataxia and mild hepatic fibrosis. Saldino-Mainzer syndrome is caused by mutations in genes involved in ciliary function, most commonly the IFT140 gene (also known as the SRTD9 locus), though mutations in other genes such as IFT172 and WDR19 have also been implicated. The condition overlaps clinically with other ciliopathies, including Jeune asphyxiating thoracic dystrophy and Senior-Løken syndrome, reflecting shared molecular pathways involving intraflagellar transport. There is currently no cure for Saldino-Mainzer syndrome, and management is supportive and multidisciplinary. Treatment focuses on monitoring and managing renal function, with dialysis or kidney transplantation required when end-stage renal disease develops. Ophthalmologic follow-up is essential for tracking retinal degeneration, and orthopedic care may be needed for skeletal complications. Genetic counseling is recommended for affected families.

Common questions about Saldino-Mainzer syndrome