The topic Cerebrooculorenal Syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition Lowe Syndrome.

Quick Summary:

• Lowe Syndrome is a rare congenital disorder mostly occurring in males. The disorder predominantly affects the eyes, brain, and kidneys of the affected individuals
• Lowe Syndrome is caused by mutations in the OCRL gene, which codes for an enzyme known as inositol polyphosphate-5-phosphatase. This enzyme is ubiquitous (present everywhere) and regulates the transport of substances through cell membranes, both into and out of the cells. The enzyme is also involved in the regulation of the actin cytoskeleton, which is involved in the structural integrity and movement of cells
• Having a family history of Lowe Syndrome is a known risk factor for being born with the condition. However, there are reported cases of the disorder developing without any preceding family history. The risk factors associated with spontaneous mutations leading to the disorder are being researched upon
• Lowe Syndrome is inherited in an X-linked manner. In this type of inheritance, the genetic mutation is carried on the X chromosome, leading to the manifestation of the symptoms only in males, since they carry only one X chromosome
• Newborn baby boys with Lowe Syndrome show present cataract in both eyes. Additionally, the affected individuals also develop skeletal abnormalities, increased urination, dehydration, acidic blood, and are intellectually deficit
• The disorder is diagnosed with the help of physical examination, assessment of symptoms, evaluation of family medical history, blood tests, kidney function tests and imaging studies. Genetic testing may be used to confirm the presence of OCRL gene mutations
• Complications from the disorder include glaucoma, kidney disorder, bone abnormalities resulting in stature and movement problems, delay in achieving developmental milestones, seizures, behavioral issues, and reduced life expectancy
• A team of professionals belonging to different specialties is often needed to help an affected individual to lead as normal a life as possible. Treatment options for the disorder include surgery to repair cataracts, medication to address kidney malfunction and behavioral issues, physiotherapy to help with movement, as well as speech therapy
• The prognosis of Lowe Syndrome is typically poor. The affected individuals do not generally live beyond the age of 40 years. The quality of life depends upon the severity of disorder, timely and sustained treatment, as well as supportive care

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