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]
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) |
| Anemia | 90% |
| Cellular immunodeficiency | 90% |
| Depressed nasal bridge | 90% |
| Glomerulopathy | 90% |
| Intrauterine growth retardation | 90% |
| Lymphopenia | 90% |
| Melanocytic nevus | 90% |
| Microdontia | 90% |
| Nephrotic syndrome | 90% |
| Proteinuria | 90% |
| Short neck | 90% |
| Thrombocytopenia | 90% |
| Cafe-au-lait spot | 50% |
| Abnormal immunoglobulin level | - |
| Abnormality of T cells | - |
| Arteriosclerosis | - |
| Astigmatism | - |
| Autosomal recessive inheritance | - |
| Bulbous nose | - |
| Coarse hair | - |
| Disproportionate short-trunk short stature | - |
| Fine hair | - |
| Focal segmental glomerulosclerosis | - |
| High pitched voice | - |
| Hypermelanotic macule | - |
| Hypertension | - |
| Hypoplasia of the capital femoral epiphysis | - |
| Lateral displacement of the femoral head | - |
| Lumbar hyperlordosis | - |
| Motor delay | - |
| Myopia | - |
| Neutropenia | - |
| Opacification of the corneal stroma | - |
| Osteopenia | - |
| Ovoid vertebral bodies | - |
| Platyspondyly | - |
| Protuberant abdomen | - |
| Recurrent infections | - |
| Renal insufficiency | - |
| Shallow acetabular fossae | - |
| Spondyloepiphyseal dysplasia | - |
| Thoracic kyphosis | - |
| Thyroid-stimulating hormone excess | - |
| Transient ischemic attack | - |
| Waddling gait | - |
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
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.
The following diseases are related to Schimke immunoosseous dysplasia. If you have a question about any of these diseases, you can contact GARD.
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. Submit a new 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? See answer
