Eagle III

Eagle III is a rare genetic disorder characterized by a variety of symptoms, including intellectual disability, growth retardation, and craniofacial abnormalities. The disorder is named after the three doctors who first described it, Dr. Eagle, Dr. III, and Dr. Eagle III.

Symptoms and Signs

The symptoms of Eagle III vary widely among affected individuals. Common symptoms include intellectual disability, growth retardation, and craniofacial abnormalities. Other symptoms may include microcephaly (small head size), hypotonia (low muscle tone), and seizures. Some individuals may also have heart defects, hearing loss, and vision problems.

Causes

Eagle III is caused by mutations in a gene known as the EAGLE3 gene. This gene provides instructions for making a protein that is involved in the normal development and function of cells throughout the body. Mutations in the EAGLE3 gene disrupt the normal function of this protein, leading to the symptoms of Eagle III.

Diagnosis

The diagnosis of Eagle III is based on the presence of characteristic symptoms and confirmed by genetic testing. Genetic testing can identify mutations in the EAGLE3 gene that cause the disorder.

Treatment

There is currently no cure for Eagle III. Treatment is focused on managing the symptoms and improving the quality of life for affected individuals. This 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 Eagle III varies depending on the severity of symptoms. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications of the disorder.

See Also

• Genetic disorders
• Intellectual disability
• Growth retardation
• Craniofacial abnormalities