What does BRRS mean in SYNDROMES
Bannayan Riley Ruvalcaba Syndrome (BRRS) is an autosomal dominant disorder that affects many aspects of a person's life, including their physical and mental health. It is caused by mutations in the PTEN gene and is characterized by a variety of medical conditions such as macrocephaly (excessive head size), lipomas (fatty tumors), polyps of the colon, hamartomatous rectal polyps and other gastrointestinal (GI) problems. Individuals with BRRS may also have developmental delay, intellectual disability, autism spectrum disorder, seizures and vision or hearing problems. It can be diagnosed through clinical genetic testing and management involves addressing the various symptoms associated with it.
BRRS meaning in Syndromes in Medical
BRRS mostly used in an acronym Syndromes in Category Medical that means Bannayan Riley Ruvalcaba syndrome
Shorthand: BRRS,
Full Form: Bannayan Riley Ruvalcaba syndrome
For more information of "Bannayan Riley Ruvalcaba syndrome", see the section below.
Effects
The most prominent symptom associated with BRRS is macrocephaly which is defined as having an abnormally large head circumference in comparison to normal ranges for age and gender. This can result in excessive head growth for the individual affected by BRRS which often leads to physical features such as a high forehead or wide-set eyes. Additionally, people with this condition may experience lipomas which are fatty tumors that develop under the skin or within muscle tissue as well as gastrointestinal issues like rectal polyps and hamartomatous GI tract tumors. People with BRRS may also present with developmental delays, intellectual disability, autism spectrum disorder, seizures and vision or hearing problems.
Diagnosis
BRRS can be identified through clinical genetic testing that looks for mutations in the PTEN gene located on chromosome 10q23-24.1. A complete family history should be taken during evaluation to identify any additional characteristic clinical signs or symptoms associated with this condition that might otherwise go unnoticed. In addition to genetic testing, imaging studies may also help to diagnose BRRS if macrocephaly is present and additional medical issues need to be ruled out.
Management
Management of BRRS requires a multidisciplinary approach so that each individual symptom can be addressed appropriately. Clinical monitoring for GI tract issues such as rectal polyps needs to occur since these types of growths can become malignant if left untreated. Other therapies include cognitive behavioral therapy for autism spectrum disorder symptoms as well as speech therapy to address any delays in language development due to this condition.
Final Words:
In conclusion, Bannayan Riley Ruvalcaba Syndrome (BRRS) is an autosomal dominant disorder caused by mutations in the PTEN gene resulting in macrocephaly, lipomas and other GI issues like colonic polyps or hamartomatous GI tract tumors along with developmental delays and intellectual disability. Diagnosis includes clinical genetic testing along with family history taking and imaging studies when necessary while management focuses on addressing each individual symptom appropriately with therapies such as cognitive behavioral therapy for autism related symptoms combined with regular GI tract monitoring for any potential malignancies.
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