Lateral meningocele syndrome

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Lateral Meningocele Syndrome

Lateral Meningocele Syndrome (pronunciation: lat-er-al men-in-go-seal sin-drome) is a rare genetic disorder characterized by distinctive facial features, hypermobility of the joints, and multiple meningoceles. The term is derived from the Latin latus meaning "side", the Greek meninx meaning "membrane", and kele meaning "hernia or swelling".

Symptoms

The most common symptoms of Lateral Meningocele Syndrome include facial dysmorphism, joint hypermobility, and meningocele. Facial dysmorphism refers to distinctive facial features such as a prominent forehead, wide-set eyes, and a broad nasal bridge. Joint hypermobility refers to an unusually large range of joint movement. Meningocele refers to the protrusion of the meninges, the membranes that surround the brain and spinal cord, through a defect in the skull or spinal column.

Causes

Lateral Meningocele Syndrome is caused by mutations in the NOTCH3 gene. This gene provides instructions for making a protein that plays a crucial role in the development and maintenance of the blood vessels, smooth muscle, and other tissues.

Diagnosis

Diagnosis of Lateral Meningocele Syndrome is based on clinical examination, imaging studies such as MRI or CT scan, and genetic testing to identify mutations in the NOTCH3 gene.

Treatment

Treatment of Lateral Meningocele Syndrome is symptomatic and supportive, and may include physical therapy for joint hypermobility, and surgery to repair meningoceles.

Prognosis

The prognosis for individuals with Lateral Meningocele Syndrome varies depending on the severity of the symptoms. With appropriate management, most individuals can lead a normal life.

See Also

External links

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