Klippel–Feil syndrome dominant type
Klippel–Feil Syndrome Dominant Type is a rare, genetic disorder characterized by the abnormal fusion of two or more cervical vertebrae, which are the bones in the neck. This condition is named after the two French physicians, Maurice Klippel and André Feil, who first described it in 1912.
Symptoms[edit | edit source]
The symptoms of Klippel–Feil Syndrome Dominant Type can vary greatly from person to person. The most common symptom is a short neck, often accompanied by a low hairline at the back of the head and limited mobility of the upper spine. Other symptoms can include scoliosis (a sideways curvature of the spine), hearing loss, and heart defects. Some people with this condition may also have facial anomalies, such as a cleft palate or a small lower jaw, and some may have kidney abnormalities.
Causes[edit | edit source]
Klippel–Feil Syndrome Dominant Type is caused by mutations in the GDF6 gene. This gene provides instructions for making a protein that is involved in the development of bones and joints, including those in the spine. Mutations in the GDF6 gene disrupt this development, leading to the fusion of the cervical vertebrae.
Diagnosis[edit | edit source]
Diagnosis of Klippel–Feil Syndrome Dominant Type is based on a physical examination and imaging studies, such as X-ray or MRI. Genetic testing can also be used to confirm the diagnosis, by identifying a mutation in the GDF6 gene.
Treatment[edit | edit source]
There is currently no cure for Klippel–Feil Syndrome Dominant Type. Treatment is focused on managing the symptoms and improving the quality of life for those affected. This can include physical therapy, pain management, and in some cases, surgery to correct spinal abnormalities.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Klippel–Feil syndrome dominant type is a rare disease.
| Klippel–Feil syndrome dominant type 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
