IndexWhat is WAGR syndrome?Which gene is responsible for the disorderAre there currently treatments for the disordersWhat is WAGR syndrome?WAGR syndrome is a rare disease that can affect both sexes. It is more common for children to be born with the syndrome, rather than to be diagnosed with the disease later in life. Children born with WAGR are at high risk of being diagnosed with cancer, may develop eye problems and a delay in their mental progress. WAGR is the abbreviation for four different types of diseases found in children: Wilms tumor, aniridia, genitourinary problems and mental retardation. Say no to plagiarism. Get a tailor-made essay on "Why Violent Video Games Shouldn't Be Banned"? Get an original essayWhat gene is responsible for the disorderIs there a mutation that causes this disorder? WAGR syndrome is caused by mutations in a group of genes, which are located on chromosome 11, and are removed from the chromosome. The deleted genetic material often contains genes necessary for the child's development, meaning that only one copy of the genes now exists, not two. This type of genetic change often occurs during the early stages of a child's development. What are the signs and symptoms of the disorder? Symptoms of WAGR syndrome are often seen after the birth of a baby. For example, the enlargement of the baby's kidneys can be discovered through a prenatal ultrasound, eye problems are detected during the neonatal period, as well as genital complications. Children born with WAGR syndrome may develop more problems as they become adults, increasing the chance that their kidneys, eyes, ovaries (for girls), and testes (for boys) will fail. Half of people diagnosed with WAGR syndrome get kidney cancer (also known as Wilms tumor). Symptoms include blood in the urine, loss of appetite, weight loss, low fever, loss of energy, and/or inflammation of the abdomen. What commonly happens with Aniridia is that the irises of the baby's eyes do not grow, which leaves them without a colored iris. This disease is more common among children with WAGR syndrome. Symptoms that may appear as the child grows include cataracts in the eye, rapid eye movements, and vision loss. Genital and urinary (genitourinary) problems can sometimes occur when WAGR syndrome is diagnosed. If a male has these problems, the symptoms that appear may be testicular problems or failure to grow that part of the body. For women, symptoms often include defective ovaries and abnormal growth of the uterus and vagina. Sometimes, problems with the genitals can make the sex of the newborn unclear. Mental retardation and a developmental delay in the child are common in WAGR syndrome. Each person's mental retardation is different from each other. The severity of mental retardation can range from severe to mild. However, some children who have WAGR syndrome may still have normal mental development. Other symptoms that may occur with WAGR syndrome are: developmental, behavioral, and/or psychiatric disorders such as autism, attention deficit disorder, obsessive compulsive disorder, anxiety, and depression Obesity and high cholesterol Chronic kidney disease (usually occurs after age 12 )Asthma and pneumoniaEpilepsyPancreatitisWhat are the inheritance patterns (how is it passed from generation to generation), e.g. probability of contracting this disorder. WAGR syndrome is autosomal dominant. This means that for a child to be diagnosed with WAGR syndrome, one of the parents also has the disease, so they have one normal gene and one with a deleted chromosome. The children of the parent affected by the syndrome.
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