Schimke immunoosseous dysplasia
- Immunoosseous dysplasia, schimke type
- Schimke syndrome
- Spondyloepiphyseal dysplasia nephrotic syndrome
Your QuestionMy 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?
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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.
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.
- Schimke immuno-osseous dysplasia. Genetics Home Reference. November 2008; http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia. Accessed 10/19/2010.
- Leah I Elizondo, Thomas Luecke, MD, Cornelius F Boerkoel, MD, PhD. Schimke Immunoosseous Dysplasia . GeneReviews. December 7, 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=siod. Accessed 10/19/2010.
- NORD:Schimke Immuno-osseous Dysplasia. NORD. 2008; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Schimke+Immuno-osseous+Dysplasia. Accessed 10/20/2010.