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Mainzer-Saldino syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Mainzer-Saldino syndrome

Mainzer-Saldino syndrome is a rare disorder characterized by a combination of chronic kidney disease, retinal degeneration, and specific skeletal abnormalities.

Overview

Mainzer-Saldino syndrome is a multisystem disorder. Key features include:

  • Kidney Disease: Chronic disease beginning in childhood that typically progresses to kidney failure.
  • Eye Problems: Degeneration of the light-sensitive tissue at the back of the eye (the retina). This often presents as vision loss similar to retinitis pigmentosa or Leber congenital amaurosis.
  • Skeletal Abnormalities: The most characteristic sign is cone-shaped ends of the bones (epiphyses) in the fingers. Other signs may include short stature, premature fusion of skull bones, and a small rib cage.

In some cases, individuals may also experience liver disease, coordination and balance issues (cerebellar ataxia), and mild intellectual disability.

Causes

The syndrome is usually caused by mutations in the IFT140 gene. This gene is involved in the formation and maintenance of cilia—microscopic projections on cells that participate in signaling pathways. Because cilia are essential for the function of many organs, including the kidneys, liver, and eyes, their dysfunction leads to the symptoms of this condition. Disorders caused by ciliary problems involving bone abnormalities are known as skeletal ciliopathies.

Inheritance

Mainzer-Saldino syndrome is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations. Parents of an affected individual each carry one copy of the mutated gene but typically do not exhibit symptoms.

Other Names

  • Conorenal dysplasia
  • Conorenal syndrome
  • Mainzer-Saldino chondrodysplasia
  • Mainzer-Saldino disease
  • MZSDS
  • Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia
  • Saldino-Mainzer dysplasia
  • Saldino-Mainzer syndrome
  • Short-rib thoracic dysplasia 9
  • SRTD9

Frequently Asked Questions

Early symptoms include night blindness, peripheral vision loss, or difficulty seeing in dim light. If a child reports these changes or if visual acuity drops by more than 0.1 logMAR units, schedule an ophthalmology visit. Fundus photography and optical coherence tomography (OCT) can document progression; referrals should occur within 3–6 months of symptom onset.
Each parent carries one mutated IFT140 allele. For each pregnancy, there is a 25 % chance of an affected child, 50 % chance of a carrier, and 25 % chance of an unaffected child. Prenatal testing via chorionic villus sampling (10–12 weeks) or amniocentesis (15–18 weeks) can identify affected fetuses. Pre‑implantation genetic diagnosis (PGD) with IVF allows selection of unaffected embryos. Genetic counseling should discuss these options and the emotional implications.
Kidney involvement often begins in early childhood. Routine urinalysis and serum creatinine measurements every 3–6 months can catch proteinuria or rising creatinine. A kidney ultrasound and estimated glomerular filtration rate (eGFR) are recommended annually to monitor structural changes and function decline. Early nephrology referral is advised when proteinuria exceeds 1 g/day or eGFR falls below 60 mL/min/1.73 m².
Blood pressure control with ACE inhibitors or ARBs, low‑protein diet (0.8 g/kg/day), and strict sodium restriction (<2 g/day) can slow decline. Early initiation of angiotensin‑converting enzyme inhibitors at the first sign of proteinuria is most effective. Avoid nephrotoxic drugs (NSAIDs, contrast agents) and maintain regular hydration.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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