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

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

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of epiphysis morphology	Very frequent (present in 80%-99% of cases)
Abnormality of T cells	Very frequent (present in 80%-99% of cases)
Anemia	Very frequent (present in 80%-99% of cases)
Bulbous nose	Very frequent (present in 80%-99% of cases)
Cellular immunodeficiency	Very frequent (present in 80%-99% of cases)
Disproportionate short-trunk short stature	Very frequent (present in 80%-99% of cases)
Glomerulopathy	Very frequent (present in 80%-99% of cases)
Hip dislocation	Very frequent (present in 80%-99% of cases)
Hyperlordosis	Very frequent (present in 80%-99% of cases)
Intrauterine growth retardation	Very frequent (present in 80%-99% of cases)
Lymphopenia	Very frequent (present in 80%-99% of cases)
Melanocytic nevus	Very frequent (present in 80%-99% of cases)
Microdontia	Very frequent (present in 80%-99% of cases)
Nephrotic syndrome	Very frequent (present in 80%-99% of cases)
Ovoid vertebral bodies	Very frequent (present in 80%-99% of cases)
Platyspondyly	Very frequent (present in 80%-99% of cases)
Proteinuria	Very frequent (present in 80%-99% of cases)
Short neck	Very frequent (present in 80%-99% of cases)
Thrombocytopenia	Very frequent (present in 80%-99% of cases)
Multiple cafe-au-lait spots	Frequent (present in 30%-79% of cases)
Abnormal immunoglobulin level	-
Arteriosclerosis	-
Astigmatism	-
Autosomal recessive inheritance	-
Coarse hair	-
Fine hair	-
Focal segmental glomerulosclerosis	-
High pitched voice	-
Hypermelanotic macule	-
Hypertension	-
Hypoplasia of the capital femoral epiphysis	-
Increased thyroid-stimulating hormone level	-
Lateral displacement of the femoral head	-
Lumbar hyperlordosis	-
Motor delay	-
Myopia	-
Neutropenia	-
Opacification of the corneal stroma	-
Osteopenia	-
Protuberant abdomen	-
Recurrent infections	-
Renal insufficiency	-
Shallow acetabular fossae	-
Spondyloepiphyseal dysplasia	-
Thoracic kyphosis	-
Transient ischemic attack	-
Waddling gait	-

Last updated: 9/1/2017

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

Management Guidelines

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.

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

Do you have updated information on this condition? Let us know.

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.

Patient Registry

International Skeletal Dysplasia Registry
UCLA-OHRC
Attn: Alisa Zargaryan
615 Charles E. Young Drive
South, Room 410
Los Angeles, CA 90095-7358
Telephone: 310-825-8998
E-mail: AZargaryan@mednet.ucla.edu
Web site: http://ortho.ucla.edu/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

European Skeletal Dysplasia Network
Wellcome Trust Centre for Cell-Matrix Research
Faculty of Life Sciences
University of Manchester
Michael Smith Building
Oxford Road
Manchester M13 9PT
United Kingdom
Telephone: 0161 276 3202
Fax: 0161 276 4058
E-mail: info@esdn.org
Website: http://www.esdn.org/eug/Home
Little People of America, Inc.
250 El Camino Real, Suite 201
Tustin, CA 92780
Toll-free: 888-572-2001
Telephone: 714-368-3689
Fax: 714-368-3367
E-mail: info@lpaonline.org
Website: http://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 or pages 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? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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.

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

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.

News & Events News & Events

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Related Diseases Related Diseases

The following diseases are related to Schimke immunoosseous dysplasia. If you have a question about any of these diseases, you can contact GARD.

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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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