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Disease Profile

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

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.5

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Conorenal syndrome; Mainzer Saldino syndrome; Saldino-Mainzer syndrome

Categories

Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases;

Summary

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.

Symptoms

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.

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

Learn more

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.