Klippel–Feil syndrome recessive type

Klippel–Feil Syndrome Recessive Type is a rare, genetic, developmental disorder characterized by the fusion of two or more cervical vertebrae, which leads to a limited range of neck motion. It is a subtype of the broader Klippel–Feil Syndrome (KFS), which is classified into three types: Type I, Type II, and Type III. The recessive type refers to the inheritance pattern of the disorder.

Etiology

The recessive type of Klippel–Feil Syndrome is caused by mutations in the MEOX1 gene. This gene provides instructions for making a protein that is involved in the development of the spine and other parts of the skeleton. Mutations in the MEOX1 gene disrupt the normal development of the vertebrae, leading to their fusion.

Clinical Features

Individuals with Klippel–Feil Syndrome recessive type typically have a short neck, low hairline at the back of the head, and limited mobility of the upper spine. Other features can include Sprengel's Deformity, where one shoulder blade is higher than the other, and scoliosis, a sideways curvature of the spine. Some individuals may also have hearing loss or heart defects.

Diagnosis

Diagnosis of Klippel–Feil Syndrome recessive type is based on physical examination, patient history, and radiographic findings. Genetic testing can confirm the diagnosis by identifying mutations in the MEOX1 gene.

Treatment

Treatment for Klippel–Feil Syndrome recessive type is symptomatic and supportive. Physical therapy can help improve neck mobility and overall function. In some cases, surgery may be necessary to correct spinal deformities or to relieve pressure on the spinal cord.

Prognosis

The prognosis for individuals with Klippel–Feil Syndrome recessive type varies depending on the severity of the symptoms. With appropriate management, most individuals can lead a normal life.

See Also

• Klippel–Feil Syndrome
• MEOX1
• Sprengel's Deformity
• Scoliosis

NIH genetic and rare disease info

• NIH info on Klippel–Feil syndrome recessive type

Klippel–Feil syndrome recessive type is a rare disease.

Klippel–Feil syndrome recessive type Resources
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