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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Schimke immunoosseous dysplasia


Other Names for this Disease
  • Immunoosseous dysplasia, schimke type
  • Schimke syndrome
  • SIOD
  • Spondyloepiphyseal dysplasia nephrotic syndrome
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Your Question

My daughter has the disease known as Schimke Immuno-osseous Dysplasia. When she's in a good condition, my daughter is a happy loving child.  She absolutly loves people and always makes everyone smile when she passes by. My daughter has had this ever since she was born and in her case its very severe. We are often in the hospital for weeks at a time.  Are there any organizations who can help my family with financial concerns?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What are signs and symptoms of Schimke immunoosseous dysplasia?

Schimke immunoosseous dysplasia is characterized by short stature, kidney disease, and a weakened immune system. In people with this condition, short stature is caused by flattened spinal bones (vertebrae), resulting in a shortened neck and trunk. Adult height is typically between 3 and 5 feet. Kidney (renal) disease often leads to life-threatening renal failure and end-stage renal disease (ESRD). Affected individuals also have a shortage of certain immune system cells called T cells. T cells identify foreign substances and defend the body against infection. A shortage of T cells causes a person to be more susceptible to illness.

Other features frequently seen in people with this condition include an exaggerated curvature of the lower back (lordosis); darkened patches of skin (hyperpigmentation), typically on the chest and back; and a broad nasal bridge with a rounded tip of the nose.

Less common signs and symptoms of Schimke immuno-osseous dysplasia include an accumulation of fatty deposits and scar-like tissue in the lining of the arteries (atherosclerosis), reduced blood flow to the brain (cerebral ischemia), migraine-like headaches, an underactive thyroid gland (hypothyroidism), decreased numbers of white blood cells (lymphopenia), underdeveloped hip bones (hypoplastic pelvis), abnormally small head size (microcephaly), a lack of sperm (azoospermia) in males, and irregular menstruation in females.

In severe cases, many signs of Schimke immuno-osseous dysplasia can be present at birth. People with mild cases of this disorder may not develop signs or symptoms until late childhood.[1]

 

Last updated: 10/20/2010

How is Schimke immunoosseous dysplasia diagnosed?

The diagnosis of SIOD is made on clinical findings.  The most definitive diagnostic findings are skeletal dysplasia (spondyloepiphyseal dysplasia), renal dysfunction (urinary protein loss), T lymphocyte deficiency, characteristic facial features, and hyperpigmented macules.  DNA testing for mutations in SMARCAL1 is available on a clinical basis.
Last updated: 10/20/2010

How might Schimke immunoosseous dysplasia be treated?

Treatment of Schimke immunoosseous dysplasia (SIOD) is based on addressing individual symptoms as they develop.  Renal transplantation can treat the renal disease, and bone marrow transplantation has been done to treat the immunodeficiency.  Blood thinning medications can transiently improve blood flow through the atherosclerotic arteries but do not provide enduring relief from cerebral ischemia.  Treatment with acyclovir and some antibacterial agents has been beneficial for preventing of reducing the frequency of opportunistic infections. [2][3] More detailed information about treatment for SIOD can be found on the GeneReview's Web site. Click on the GeneReview link to read more.
Last updated: 10/20/2010

Are there any organizations that can help my family with financial concerns?

The National Institutes of Health (NIH) is composed of U.S. government biomedical research institutions and is not authorized to provide routine medical assistance or treatment funds.

There are some resources, however, on the National Human Genome Research Institute's Web site that may help in finding information on financial aid for medical treatment. Visit these Web sites frequently for new information as it becomes available. In addition, talk to your state or county health department or social workers at your local hospital for more information on available resources. 
http://www.genome.gov/11008842


 

Last updated: 10/20/2010

References