9p24.3 Deletion Syndrome

1. Causes of the disease

9p24.3 deletion syndrome is a rare genetic disorder caused by the deletion of genetic material in the 9p24.3 region, which is the most distal part of the short arm of chromosome 9. Genes affected by this deletion are related to neurodevelopment and bodily functions, and can have a variety of effects on growth and development.

2. Symptoms

• Developmental delays : There are often delays in the development of motor skills, language, and social skills.
• Distinctive facial features : Some patients have distinctive facial features (e.g., small chin, broad forehead, low nasal bridge, etc.).
• Congenital abnormalities : Abnormalities of internal organs, such as the heart and urinary system, may be present.
• Behavioral problems : Autism spectrum disorder and hyperactive behavior may be reported.

3. Treatment

• Therapeutic and developmental support : Therapeutic support is provided to support the patient’s development through speech, physical and occupational therapy.
• Visceral management : Medical management of cardiac and urinary abnormalities is provided as needed.
• Behavioral Therapy : Psychological counseling and behavioral therapy are used to improve behavioral problems.

4. Prognosis

The prognosis varies depending on the severity of symptoms and complications for each patient, but it is expected that quality of life can be improved by receiving therapeutic education and appropriate medical support from an early stage.

5. The burden on parents

The need for long-term therapy and medical management can place a financial and time burden on parents, so it is recommended that parents use support groups and local services to create a support system for their children.