Klippel-Feil syndrome dominant type
Klippel-Feil Syndrome Dominant Type is a rare, genetic, developmental disorder characterized by the congenital fusion of any two of the seven cervical vertebrae, and is associated with a large number of anomalies and syndromes. It is one of the three types of Klippel-Feil Syndrome, the other two being recessive type and sporadic type.
Etiology[edit | edit source]
The exact cause of Klippel-Feil Syndrome Dominant Type is not known. However, it is believed to be 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. Mutations in the GDF6 gene disrupt the normal development of the cervical vertebrae, leading to their fusion.
Clinical Features[edit | edit source]
The most common clinical features of Klippel-Feil Syndrome Dominant Type include a short neck, low hairline at the back of the head, and limited movement of the upper spine. Other features can include hearing loss, vision problems, and heart defects. The severity of the condition can vary widely among affected individuals, even within the same family.
Diagnosis[edit | edit source]
Diagnosis of Klippel-Feil Syndrome Dominant Type is based on physical examination, medical history, and imaging studies such as X-ray and MRI. Genetic testing can also be done to confirm the diagnosis.
Treatment[edit | edit source]
There is no cure for Klippel-Feil Syndrome Dominant Type. Treatment is symptomatic and supportive, and may include physical therapy, pain management, and in some cases, surgery to relieve symptoms.
Prognosis[edit | edit source]
The prognosis for individuals with Klippel-Feil Syndrome Dominant Type varies depending on the severity of the condition and the presence of associated anomalies and syndromes. With appropriate management, most individuals with this condition can lead a normal life.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Klippel-Feil syndrome dominant type is a rare disease.
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Contributors: Prab R. Tumpati, MD
