Klippel-Feil syndrome
Klippel-Feil Syndrome
Klippel-Feil syndrome (pronounced kli-pel fayl sin-drome) is a rare, congenital condition characterized by the fusion of any two of the seven cervical vertebrae. It is named after the two French physicians, Maurice Klippel and André Feil, who first described this condition in 1912.
Etymology
The term "Klippel-Feil" is derived from the names of the two French physicians, Maurice Klippel and André Feil. The term "syndrome" comes from the Greek word "syndromē," which means "concurrence of symptoms," or "running together."
Symptoms
The most common symptoms of Klippel-Feil syndrome include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Other symptoms may include hearing and vision problems, cleft palate, respiratory issues, and heart defects.
Causes
Klippel-Feil syndrome is caused by a mutation in one of three genes: GDF6, GDF3, or MEOX1. These genes are involved in the development of the bones and muscles of the spine. The syndrome is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Diagnosis
Diagnosis of Klippel-Feil syndrome is based on physical examination, patient history, and imaging studies such as X-rays, CT scans, or MRI. Genetic testing may also be performed to confirm the diagnosis.
Treatment
Treatment for Klippel-Feil syndrome is symptomatic and supportive. It may include physical therapy, pain management, and in some cases, surgery to relieve spinal cord compression or to correct scoliosis.
See also
External links
- Medical encyclopedia article on Klippel-Feil syndrome
- Wikipedia's article - Klippel-Feil syndrome
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski