Synaptic pharmacology

Strømme Syndrome is a rare genetic disorder characterized by microcephaly, intellectual disability, and distinct facial features. It was first described by P. Strømme in 1993.

Symptoms and Signs

Strømme Syndrome is characterized by several symptoms and signs. These include:

• Microcephaly: This is a condition where the head circumference is significantly smaller than normal due to abnormal brain development.
• Intellectual disability: Individuals with Strømme Syndrome often have intellectual disabilities, which can range from mild to severe.
• Distinct facial features: These can include a narrow forehead, a prominent nose, and a small chin.

Causes

Strømme Syndrome is caused by mutations in the CENPF gene. This gene provides instructions for making a protein that is involved in cell division. Mutations in the CENPF gene disrupt the normal function of this protein, leading to the symptoms of Strømme Syndrome.

Diagnosis

The diagnosis of Strømme Syndrome is based on clinical examination and genetic testing. Genetic testing can confirm the presence of a mutation in the CENPF gene.

Treatment

There is currently no cure for Strømme Syndrome. Treatment is supportive and based on the symptoms present in each individual. This can include physical therapy, special education, and other supportive services.

Prognosis

The prognosis for individuals with Strømme Syndrome varies. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications of the disorder.

See Also

• Genetic disorders
• Microcephaly
• Intellectual disability

References

Synaptic pharmacology Resources
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