Mount-Reback syndrome

Mount-Reback Syndrome is a rare genetic disorder characterized by a variety of physical and neurological symptoms. It was first described by Dr. John Mount and Dr. Robert Reback in the late 20th century.

Symptoms and Signs

The symptoms of Mount-Reback Syndrome can vary greatly between individuals. However, common symptoms include developmental delay, intellectual disability, seizures, and distinctive facial features. Some individuals may also have heart defects, hearing loss, and abnormalities of the skeletal system.

Causes

Mount-Reback Syndrome is caused by mutations in a specific gene. This gene is responsible for producing a protein that plays a crucial role in the development and function of various body systems. When this gene is mutated, it can lead to the wide range of symptoms seen in individuals with Mount-Reback Syndrome.

Diagnosis

Diagnosis of Mount-Reback Syndrome is typically based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the specific gene associated with the condition.

Treatment

There is currently no cure for Mount-Reback Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and speech therapy. Medications may be used to manage seizures and other symptoms.

Prognosis

The prognosis for individuals with Mount-Reback Syndrome can vary greatly depending on the severity of symptoms. With appropriate management and support, many individuals with the condition can lead fulfilling lives.

See Also

• List of genetic disorders
• Genetic testing
• Physical therapy

NIH genetic and rare disease info

• NIH info on Mount-Reback syndrome

Mount-Reback syndrome is a rare disease.

Mount-Reback syndrome Resources
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