Stewart

Stewart Syndrome is a rare genetic disorder characterized by a variety of symptoms and physical abnormalities. The syndrome is named after Dr. John P. Stewart, who first described the condition in 1977.

Symptoms and Signs

Stewart Syndrome is characterized by a wide range of symptoms, which can vary greatly in severity from person to person. Common symptoms include intellectual disability, growth retardation, and distinctive facial features such as a prominent forehead, wide-set eyes, and a small jaw. Other symptoms can include hearing loss, heart defects, and abnormalities of the kidneys and urinary tract.

Causes

Stewart Syndrome is caused by mutations in the gene known as FLNA. This gene provides instructions for making a protein called filamin A, which plays a crucial role in the development and maintenance of the body's cells. Mutations in the FLNA gene disrupt the normal function of filamin A, leading to the various symptoms and physical abnormalities associated with Stewart Syndrome.

Diagnosis

Diagnosis of Stewart Syndrome is based on a combination of physical examination, medical history, and genetic testing. Genetic testing can confirm the presence of a mutation in the FLNA gene, providing a definitive diagnosis.

Treatment

There is currently no cure for Stewart Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational support for those with intellectual disability. Surgery may be required to correct heart defects or kidney abnormalities.

Prognosis

The prognosis for individuals with Stewart Syndrome varies widely, depending on the severity of symptoms and the presence of other health problems. With appropriate treatment and support, many individuals with Stewart Syndrome can lead fulfilling lives.

See Also

• Genetic Disorders
• Intellectual Disability
• Heart Defects