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Disease Profile

Schimke immunoosseous 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

Q77.7

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)

Spondyloepiphyseal dysplasia nephrotic syndrome; Schimke syndrome; Immunoosseous dysplasia, Schimke type;

Categories

Congenital and Genetic Diseases; Eye diseases; Immune System Diseases;

Summary

Schimke immunoosseous dysplasia (SIOD) is a condition that results in short stature, kidney disease (nephropathy), and a weakened immune system. Some people develop a severe form in early childhood, and others develop a milder form in childhood or later. Short stature is due to spondyloepiphyseal dysplasia, which involves abnormal development of the spine and the ends of the long bones. Nearly all people with SIOD have kidney disease, which progresses to end-stage renal disease. Most people with SIOD also have T-cell deficiency causing an increased risk for infections, which can be life-threatening. SIOD is caused by mutations in the SMARCAL1 gene and inheritance is autosomal recessive. Treatment depends on the symptoms and severity in each person. The severe, early-onset form can be life-threatening in childhood, while people with a milder form may survive to adulthood if kidney disease is appropriately treated.[1]

Symptoms

Schimke immunoosseous dysplasia (SIOD) affects multiple parts of the body. Slow growth is often the first sign of SIOD. People usually develop a short neck and trunk (disproportionately short stature) due to spondyloepiphyseal dysplasia. Bone abnormalities typically develop in the spine or hips. Many people with SIOD eventually need hip replacement surgery. Kidney disease is present at the time of diagnosis or develops within a few years, and it ultimately progresses to renal failure. Nearly all people with SIOD have a blood cell deficiency, most commonly of T-cells. This causes an increased risk for infections, which can be life-threatening.[2]

Other signs and symptoms may include:[2]

See GeneReviews for a detailed list of the symptoms of SIOD.

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
80%-99% of people have these symptoms
Abnormal T cell morphology
0002843
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Anemia
Low number of red blood cells or hemoglobin
0001903
Bulbous nose
0000414
Cellular immunodeficiency
0005374
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Disproportionate short-trunk short stature
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism

[ more ]

0003521
Glomerulopathy
0100820
Hip dislocation
Dislocated hips
Dislocation of hip

[ more ]

0002827
Hyperlordosis
Prominent swayback
0003307
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Lymphopenia
Decreased blood lymphocyte number
Low lymphocyte number

[ more ]

0001888
Melanocytic nevus
Beauty mark
0000995
Microdontia
Decreased width of tooth
0000691
Nephrotic syndrome
0000100
Ovoid vertebral bodies
0003300
Platyspondyly
Flattened vertebrae
0000926
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Short neck
Decreased length of neck
0000470
Thrombocytopenia
Low platelet count
0001873
30%-79% of people have these symptoms
Multiple cafe-au-lait spots
0007565
Percent of people who have these symptoms is not available through HPO
Abnormal immunoglobulin level
0010701
Arteriosclerosis
0002634
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Autosomal recessive inheritance
0000007
Coarse hair
Coarse hair texture
0002208
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture

[ more ]

0002213
Focal segmental glomerulosclerosis
0000097
High pitched voice
0001620
Hypermelanotic macule
Hyperpigmented spots
0001034
Hypertension
0000822
Hypoplasia of the capital femoral epiphysis
Small innermost thighbone end part
Underdevelopment of the innermost thighbone end part

[ more ]

0003090
Increased thyroid-stimulating hormone level
0002925
Lateral displacement of the femoral head
0006453
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Motor delay
0001270
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Neutropenia
Low blood neutrophil count
Low neutrophil count

[ more ]

0001875
Opacification of the corneal stroma
0007759
Osteopenia
0000938
Protuberant abdomen
Belly sticks out
Extended belly

[ more ]

0001538
Recurrent infections
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection

[ more ]

0002719
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Shallow acetabular fossae
0003182
Spondyloepiphyseal dysplasia
0002655
Thoracic kyphosis
0002942
Transient ischemic attack
Mini stroke
0002326
Waddling gait
'Waddling' gait
Waddling walk

[ more ]

0002515

Diagnosis

The diagnosis of SIOD is suspected in people with the following key features:

  • Short stature
  • Spondyloepiphyseal dysplasia
  • Progressive kidney disease
  • Tcell deficiency
  • Characteristic facial features
  • Patches of increased skin color (hyperpigmented macules)

The diagnosis can be established after a clinical examination. Genetic testing to identify mutations in the SMARCAL1 gene can confirm the diagnosis.[1]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    Treatment of Schimke immunoosseous dysplasia (SIOD) depends on the severity and individual symptoms in each person. Regular monitoring of the hips, kidneys, immune system and blood is recommended.[1]

    Examples of treatments that may be needed for SIOD include:[1]

    • Kidney dialysis or transplant
    • Hip replacement
    • Treatment of neutropenia with granulocyte colony-stimulating factor or granulocyte-macrophage colony-stimulating factor
    • Bone marrow transplantation for immune deficiency (although several deaths after transplantation have been reported)
    • Medications to suppress the immune system for those with autoimmune symptoms
    • Acyclovir for recurrent herpes infections
    • Imiquimod and cidofovir (an antiviral) for severe papilloma virus infections of the skin
    • Agents that improve blood flow or decrease blood clotting to treat transient ischemic attacks ("mini strokes") or strokes
    • Standard treatment of hypothyroidism
    • Standard treatment of scoliosis

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Social Networking Websites

        Organizations Providing General Support

          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 (GHR) contains information on Schimke immunoosseous dysplasia. This website is maintained by the National Library of Medicine.
          • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

            In-Depth Information

            • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
            • 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 Schimke immunoosseous dysplasia. Click on the link to view a sample search on this topic.

              References

              1. Morimoto M, Lewis DB, Lücke T, Boerkoel CF. Schimke Immunoosseous Dysplasia. GeneReviews. February 11, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1376/.
              2. Schimke Immuno-osseous Dysplasia. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/schimke-immuno-osseous-dysplasia/.

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