Question: What is (are) Schimke immunoosseous dysplasia ?
Answer: Schimke immunoosseous dysplasia (SIOD) is a condition characterized by short stature, kidney disease, and a weakened immune system. Growth failure is often the first sign of this condition. Other features are usually detected in the evaluation for growth failure or in the following years. The severity of SIOD ranges from an infantile or severe early-onset form to a juvenile or milder late-onset form. Complications of the severe form of SIOD can include strokes, severe opportunistic infections, bone marrow failure, and kidney failure that can be life-threatening early in life. People with milder disease have survived to adulthood if their kidney disease is managed. This condition is inherited in an autosomal recessive pattern. Mutations in the SMARCAL1 gene increase the risk to develop Schimke immunoosseous dysplasia. However, in order for people with SMARCAL1 gene mutations to develop symptoms of Schimke immunoosseous dysplasia, other currently unknown genetic or environmental factors must also be present.
Source: GARD

Question: What are the symptoms of Schimke immunoosseous dysplasia ?
Answer: What are the 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. The Human Phenotype Ontology provides the following list of signs and symptoms for Schimke immunoosseous dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. 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 - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: How to diagnose Schimke immunoosseous dysplasia ?
Answer: 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.
Source: GARD