CEREBROOCULORENAL SYNDROME Meaning and
Definition
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Cerebrooculorenal Syndrome, also known as Lowe syndrome, is a rare genetic disorder that primarily affects males. It is characterized by the presence of intellectual disability, congenital cataracts, and renal (kidney) dysfunction.
Individuals with Cerebrooculorenal Syndrome typically experience delays in the development of motor and language skills due to their intellectual disability. They may have difficulty with coordination and exhibit various behavioral problems. Congenital cataracts, a key feature of this syndrome, occur at birth or develop shortly thereafter, leading to impaired vision and potentially blindness if not treated. Renal abnormalities are also commonly observed and may include problems with urine production, kidney function, and electrolyte imbalances.
Additional signs and symptoms associated with Cerebrooculorenal Syndrome can involve muscle weakness, bone abnormalities, seizures, hypotonia (low muscle tone), and short stature. Some affected individuals may also exhibit behavioral issues such as autism spectrum disorder characteristics or attention deficit hyperactivity disorder (ADHD).
Cerebrooculorenal Syndrome is caused by mutations in the OCRL gene, which plays a crucial role in cellular processes and functions within the brain, eyes, and kidneys. This gene is responsible for producing an enzyme called inositol polyphosphate 5-phosphatase, which regulates the levels of cellular substances called phosphoinositides. Disruptions in this enzyme's activity can lead to the range of symptoms observed in Cerebrooculorenal Syndrome.
Common Misspellings for CEREBROOCULORENAL SYNDROME
- xerebrooculorenal syndrome
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Etymology of CEREBROOCULORENAL SYNDROME
The word "Cerebrooculorenal Syndrome" is a medical term used to describe a rare genetic disorder characterized by abnormalities in the brain, eyes, and kidneys. The etymology of this term can be broken down as follows:
1. Cerebro-: This prefix derives from the Latin word "cerebrum", meaning brain. It is used to denote a relationship with the brain.
2. Oculo-: Also derived from Latin, this prefix comes from the word "oculus", meaning eye. It indicates a connection with the eyes.
3. Renal: This term originates from the Latin word "ren", meaning kidney. It signifies a relationship or involvement with the kidneys.
4. Syndrome: This word has its roots in the Greek language, with "syn-" meaning together and "-drome" meaning a course or a run.
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