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Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome

Last updated Aug. 28, 2017

Approved by: Krish Tangella MD, MBA, FCAP


The topic Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition Mainzer-Saldino Syndrome.

Quick Summary:

  • Mainzer-Saldino Syndrome (MSS) is an extremely rare disorder, with a reported prevalence of less than one individual per million populations being affected
  • MSS affects the eyes, kidneys, liver, and bones. The age of onset of the disorder is typically during early childhood, and the rate of disorder progression can be variable
  • Barring a family history of the disorder, no other risk factors have been described in individual’s being diagnosed with Mainzer-Saldino Syndrome. It is inherited in an autosomal recessive manner
  • Mutations in the IFT140 gene are known to cause Mainzer-Saldino Syndrome. The gene codes for a protein that is necessary for the formation of cilia, as well as their maintenance
    • Cilia are microscopic finger-like projections on cells’ surfaces. They are present on the surfaces of liver, kidney, and specialized cells in the eyes that sense light
    • Cilia play a role in signalling pathways, thereby modulating the function of many organs
    • The presence of cilia is necessary for the proper structure and functioning of these organs
  • The IFT (intra-flagellar transport) group of proteins help in the transport of substances within the cilia (and related structures known as flagella). The IFT40 gene product is part of a complex of IFT proteins called the IFT-A complex. When the cilia malfunction, the signalling mechanism fails to function properly. This leads to the symptoms of the Mainzer-Saldino Syndrome
  • Since cilia are present in multiple organs in the body, the symptoms of the disorder can include malfunctions of several body organs. Abnormality in the bones of the fingers and toes, short stature, permanently fused skull bones, vision problems, kidney malfunction, fibrosis of the liver, problems with gait and balance, and reduced intellectual acuity, are some common symptoms of MSS
  • At this time, there are no specific treatments available to cure Mainzer-Saldino Syndrome. Periodic monitoring of the affected individual’s condition and symptomatic treatment are generally necessary. The symptoms that arise in the individual are addressed through the use of corrective glasses for eye problems, dietary restrictions, and dialysis for severe kidney disorder
  • The onset and progression of kidney damage is considered key to the survival in individuals with Mainzer-Saldino Syndrome. Early diagnosis and prompt treatment of MSS can help improve one’s quality of life

Please find comprehensive information on Mainzer-Saldino Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Aug. 28, 2017
Last updated: Aug. 28, 2017