Klippel-Feil syndrome recessive type
Klippel-Feil Syndrome Recessive 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 a subtype of Klippel-Feil Syndrome (KFS), which is named after the two French physicians, Maurice Klippel and André Feil, who first described it in 1912.
Symptoms[edit | edit source]
The primary symptom of Klippel-Feil Syndrome Recessive Type is a short neck, often accompanied by a low hairline at the back of the head and limited movement in the neck. Other symptoms can include scoliosis (a sideways curvature of the spine), hearing loss, and facial anomalies. Some individuals may also have abnormalities in other body parts, such as the heart, kidneys, or lungs.
Causes[edit | edit source]
Klippel-Feil Syndrome Recessive Type is caused by mutations in specific genes. The condition is 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 Klippel-Feil Syndrome Recessive Type is based on the physical symptoms and can be confirmed by genetic testing. Imaging tests such as X-rays or magnetic resonance imaging (MRI) can also be used to identify abnormalities in the vertebrae.
Treatment[edit | edit source]
There is no cure for Klippel-Feil Syndrome Recessive Type. Treatment is symptomatic and supportive, and may 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 recessive type is a rare disease.
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