Schimke immunoosseous dysplasia

Title

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:

Congenital and Genetic Diseases; Eye diseases; Immune System Diseases; Congenital and Genetic Diseases; Eye diseases; Immune System Diseases; Kidney and Urinary Diseases; Metabolic disorders; Mouth Diseases; Musculoskeletal Diseases; Nervous System Diseases See More

This disease is grouped under:

T cell immunodeficiency primary

Summary 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]

Last updated: 9/18/2017

Symptoms 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]

Reduced thyroid function
Protruding abdomen
Patches of increased skin color (hyperpigmented macules)
Progressive atherosclerosis beginning in early childhood
Transient ischemic attacks or stroke
Severe, migraine-like headaches
Lung complications including pulmonary emboli, pulmonary hypertension, and lung disease

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.

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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 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2019

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

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 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

Last updated: 9/18/2017

Prognosis Prognosis

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

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

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 Research

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.

European Skeletal Dysplasia Network
Institute of Genetic Medicine
Newcastle University
International Centre for Life
Central Parkway
New Castle upon Tyne
Manchester M13 9PT
NE1 3BZ, United Kingdom
E-mail: info@esdn.org
Website: http://www.esdn.org/eug/Home

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)

Greenberg Center for Skeletal Dysplasias
Johns Hopkins University
Institute of Genetic Medicine
600 North Wolfe Street
Blalock 1008
Baltimore, MD 21287
Telephone: 410-614-0977
E-mail: deedee@jhmi.edu
Website: http://www.hopkinsmedicine.org/institute-genetic-medicine/patient-care/genetics-clinic/about/greenberg-center-skeletal-dysplasia/

Organizations 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

Little People of America, Inc.
617 Broadway #518
Sonoma, CA 95476
Toll-free: 1-888-572-2001
Telephone: +1-714-368-3689
Fax: +1-707-721-1896
E-mail: info@lpaonline.org
Website: https://www.lpaonline.org/
The MAGIC Foundation
4200 Cantera Dr. #106
Warrenville, IL 60555
Toll-free: 800-362-4423
Telephone: 630-836-8200
Fax: 630-836-8181
E-mail: contactus@magicfoundation.org
Website: https://www.magicfoundation.org/

Social Networking Websites

Visit the following Facebook groups related to Schimke immunoosseous dysplasia:
The Little Giants Foundation

Organizations Providing General Support

Human Growth Foundation
997 Glen Cove Avenue, Suite 5
Glen Head, NY 11545
Toll-free: 1-800-451-6434
Fax: 516-671-4055
E-mail: hgf1@hgfound.org
Website: http://www.hgfound.org/

Do you know of an organization? We want to hear from you.

Learn More 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.

GARD Answers GARD Answers

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.

Have a question? Contact a GARD Information Specialist.

References References

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

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