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 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)|
|Depressed nasal bridge||90%|
|Intrauterine growth retardation||90%|
|Abnormal immunoglobulin level||-|
|Abnormality of T cells||-|
|Autosomal recessive inheritance||-|
|Disproportionate short-trunk short stature||-|
|Focal segmental glomerulosclerosis||-|
|High pitched voice||-|
|Hypoplasia of the capital femoral epiphysis||-|
|Lateral displacement of the femoral head||-|
|Opacification of the corneal stroma||-|
|Ovoid vertebral bodies||-|
|Shallow acetabular fossae||-|
|Thyroid-stimulating hormone excess||-|
|Transient ischemic attack||-|
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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? See answer