11q13.2-q13.4 Deletion Syndrome

1. Causes of the disease

11q13.2-q13.4 deletion syndrome is a rare genetic disorder caused by the deletion of genetic material in a specific region (q13.2 to q13.4) on the long arm of chromosome 11. This deletion affects genes involved in neurodevelopment and physical growth and can result in a variety of symptoms. It often occurs as a de novo mutation, but can also run in families.

2. Symptoms

• Developmental delays : Language, motor and cognitive development may be delayed.
• Distinctive facial features : Individuals may have distinctive facial features, but the severity of the condition varies from person to person.
• Behavioral abnormalities : Autism spectrum related behaviors and hyperactivity may be seen.
• Abnormalities of internal organs : Some patients may have abnormalities of internal organs, such as the heart or kidneys.

3. Treatment

• Developmental and therapeutic support : Patients will be helped to improve their skills through physical, speech and occupational therapy.
• Behavioral therapy : Psychological counseling and behavioral therapy are used to treat behavioral disorders.
• Medical Management : Appropriate medical management of visceral abnormalities is provided as necessary.

4. Prognosis

The prognosis varies depending on the severity of the symptoms and whether or not there are any complications, but with proper support and medical management, patients can expect to improve their quality of life. Long-term medical care is often required.

5. The burden on parents

Since long-term medical care and therapy are required, which can be a significant financial and time burden, it is important to cooperate with medical institutions and support groups and establish a support system.