Bannayan-Zonana syndrome
Bannayan-Zonana Syndrome Bannayan-Zonana Syndrome (BZS) is a rare genetic disorder characterized by multiple congenital anomalies and developmental issues. It is part of a group of disorders known as PTEN hamartoma tumor syndromes (PHTS), which are caused by mutations in the PTEN gene.
Clinical Features[edit | edit source]
Individuals with Bannayan-Zonana Syndrome typically present with a variety of symptoms, which may include:
- Macrocephaly: An abnormally large head size, often present at birth.
- Lipomas: Benign fatty tumors that can occur anywhere on the body.
- Hemangiomas: Benign tumors of blood vessels, often appearing as red or purple skin lesions.
- Developmental Delay: Delays in reaching developmental milestones, which can vary in severity.
- Intestinal Polyps: Non-cancerous growths in the gastrointestinal tract, which can cause symptoms such as bleeding or obstruction.
Genetic Basis[edit | edit source]
Bannayan-Zonana Syndrome is caused by mutations in the PTEN gene, which is located on chromosome 10q23.3. The PTEN gene is a tumor suppressor gene, and mutations can lead to uncontrolled cell growth and the development of tumors.
Diagnosis[edit | edit source]
Diagnosis of Bannayan-Zonana Syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the PTEN gene.
Management[edit | edit source]
There is no cure for Bannayan-Zonana Syndrome, but management focuses on monitoring and treating symptoms. This may include:
- Regular screening for tumors and polyps.
- Surgical removal of lipomas or polyps if they cause symptoms.
- Developmental support and therapies for children with developmental delays.
Related Conditions[edit | edit source]
Bannayan-Zonana Syndrome is part of the PTEN hamartoma tumor syndromes group, which also includes:
Research and Future Directions[edit | edit source]
Research is ongoing to better understand the role of the PTEN gene in Bannayan-Zonana Syndrome and related conditions. Advances in genetic testing and personalized medicine may improve diagnosis and management in the future.
External Resources[edit | edit source]
- [Genetics Home Reference](https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome)
- [National Organization for Rare Disorders (NORD)](https://rarediseases.org/rare-diseases/bannayan-riley-ruvalcaba-syndrome/)
NIH genetic and rare disease info[edit source]
Bannayan-Zonana syndrome is a rare disease.
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
