National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia


Other Names:
Conorenal syndrome; Mainzer Saldino syndrome; Saldino-Mainzer syndrome
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 140969

Definition
Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.

Epidemiology
Around 10 cases have been described in the literature so far.

Clinical description
Mild to moderate short stature has also been reported. Radiologic studies reveal shortened phalanges with cone-shaped epiphysis. Femoral epiphyseal and metaphyseal anomalies are common.

Genetic counseling
The syndrome is transmitted as an autosomal recessive trait.

Visit the Orphanet disease page for more resources.
Last updated: 7/1/2008

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Cholestasis
Slowed or blocked flow of bile from liver
0001396
Hepatomegaly
Enlarged liver
0002240
5%-29% of people have these symptoms
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] 		0100543
Craniosynostosis 0001363
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Short ribs 0000773
1%-4% of people have these symptoms
Bifid uvula 0000193
Percent of people who have these symptoms is not available through HPO
Accessory oral frenulum 0000191
Anemia
Low number of red blood cells or hemoglobin
0001903
Ataxia 0001251
Autosomal recessive inheritance 0000007
Cone-shaped epiphysis
Cone-shaped end part of bone
0010579
Frontal bossing 0002007
Hepatic fibrosis 0001395
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hypoplasia of the capital femoral epiphysis
Small innermost thighbone end part
Underdevelopment of the innermost thighbone end part
[ more ] 		0003090
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] 		0000158
Microdontia
Decreased width of tooth
0000691
Narrow forehead
Decreased width of the forehead
0000341
Nephronophthisis 0000090
Nephropathy 0000112
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Prominent forehead
Pronounced forehead
Protruding forehead
[ more ] 		0011220
Renal cyst
Kidney cyst
0000107
Renal dysplasia 0000110
Rod-cone dystrophy 0000510
Scaphocephaly 0030799
Short femoral neck
Short neck of thighbone
0100864
Short phalanx of finger
Short finger bones
0009803
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Stage 5 chronic kidney disease 0003774
Trigonocephaly
Triangular skull shape
Wedge shaped skull
[ more ] 		0000243
Visual loss
Loss of vision
Vision loss
[ more ] 		0000572
Wide mouth
Broad mouth
Large mouth
[ more ] 		0000154
Widely spaced teeth
Wide-spaced teeth
Widely-spaced teeth
[ more ] 		0000687
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference contains information on Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia. This website is maintained by the National Library of Medicine.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia. Click on the link to view a sample search on this topic.

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