Trueb–Burg–Bottani syndrome
Trueb–Burg–Bottani syndrome is a rare genetic disorder characterized by a combination of physical and developmental abnormalities. The syndrome was first described by Swiss pediatricians L. Trueb, A. Burg, and A. Bottani in 1999.
Symptoms and Signs[edit | edit source]
The symptoms of Trueb–Burg–Bottani syndrome can vary greatly among affected individuals. Common features include intellectual disability, microcephaly (small head size), hypotonia (low muscle tone), and distinctive facial features such as a broad forehead, deep-set eyes, and a prominent nose. Some individuals may also have congenital heart defects, seizures, and abnormalities of the skin, hair, and nails.
Causes[edit | edit source]
Trueb–Burg–Bottani syndrome is caused by mutations in a gene that has not yet been identified. It is thought to be inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Diagnosis[edit | edit source]
Diagnosis of Trueb–Burg–Bottani syndrome is based on clinical examination and the presence of characteristic symptoms. Genetic testing may be used to confirm the diagnosis, although the specific gene associated with this syndrome has not yet been identified.
Treatment[edit | edit source]
There is currently no cure for Trueb–Burg–Bottani syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage seizures and other symptoms.
Prognosis[edit | edit source]
The prognosis for individuals with Trueb–Burg–Bottani syndrome varies depending on the severity of symptoms. With appropriate support and treatment, many individuals with this syndrome can lead fulfilling lives.
See Also[edit | edit source]
- List of genetic disorders
- Autosomal recessive inheritance
- Intellectual disability
- Microcephaly
- Hypotonia
NIH genetic and rare disease info[edit source]
Trueb–Burg–Bottani syndrome is a rare disease.
| Trueb–Burg–Bottani syndrome Resources | |
|---|---|
|
 |
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
