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

Schimke immunoosseous dysplasia


Other Names:
Spondyloepiphyseal dysplasia nephrotic syndrome; Schimke syndrome; Immunoosseous dysplasia, Schimke type; Spondyloepiphyseal dysplasia nephrotic syndrome; Schimke syndrome; Immunoosseous dysplasia, Schimke type; SIOD; Schimke immuno-osseous dysplasia See More
Categories:
This disease is grouped under:
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]
Last updated: 9/18/2017
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.

Last updated: 9/18/2017

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.

Showing of 48 |
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
Showing of 48 |
Last updated: 7/1/2020
The diagnosis of SIOD is suspected in people with the following key features:
  • Short stature
  • Spondyloepiphyseal dysplasia
  • Progressive kidney disease
  • T-cell 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]
Last updated: 9/18/2017

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 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
Last updated: 9/18/2017
Schimke immunoosseous dysplasia (SIOD) varies in severity.[1] Those with an early-onset form generally have severe symptoms and an average lifespan of about 9 years. Causes of death may include stroke, severe opportunistic infection, bone marrow failure, complications of kidney failure, congestive heart failure, or lung disease. Those with milder symptoms survive into adulthood if kidney disease is well-managed. However, it is important to note that severity and age of onset do not necessarily predict life expectancy, because some people with severe, early-onset SIOD have survived into their 20s and 30s.[2][1]
Last updated: 9/19/2017

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

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Cartilage-hair hypoplasia (see this term) is the main differential diagnosis.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Schimke immunoosseous dysplasia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Schimke immunoosseous dysplasia:
    International Skeletal Dysplasia Registry (ISDR)
     

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

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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/.