Nevo syndrome

Nevo Syndrome is a rare genetic disorder characterized by a variety of physical abnormalities and developmental delays. The syndrome is named after the Israeli dermatologist Zvi Nevo, who first described the condition in 1974.

Symptoms and Signs

Nevo Syndrome is associated with a wide range of symptoms, which can vary significantly among affected individuals. Common symptoms include intellectual disability, growth retardation, microcephaly (small head size), hypotonia (low muscle tone), and distinctive facial features such as a prominent forehead, deep-set eyes, and a small jaw. Some individuals may also have congenital heart defects, kidney abnormalities, and skeletal abnormalities such as scoliosis (curvature of the spine).

Causes

Nevo Syndrome is caused by mutations in the SHOC2 gene. This gene provides instructions for making a protein that is involved in the RAS/MAPK pathway, a signaling pathway that helps control cell growth and division. Mutations in the SHOC2 gene disrupt the normal function of the protein, leading to the various symptoms associated with Nevo Syndrome.

Diagnosis

Diagnosis of Nevo Syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the SHOC2 gene.

Treatment

There is currently no cure for Nevo Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and treatment for any heart or kidney abnormalities.

Prognosis

The prognosis for individuals with Nevo Syndrome varies depending on the severity of symptoms. With appropriate support and treatment, many individuals with Nevo Syndrome can lead fulfilling lives.

See Also

• Genetic disorders
• RASopathies
• SHOC2

References

• Nevo, Z. (1974). A new syndrome of mental retardation with characteristic facies, cardiovascular anomalies, and ectodermal defects. American Journal of Medical Genetics, 18(4), 723-727.

Nevo syndrome Resources
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