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

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

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

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

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

• Klippel–Feil Syndrome
• Cervical vertebrae
• GDF6

NIH genetic and rare disease info

• NIH info on Klippel–Feil syndrome dominant type

Klippel–Feil syndrome dominant type is a rare disease.

Klippel–Feil syndrome dominant type Resources
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