13q14 Deletion Syndrome

1. Causes of the disease

13q14 deletion syndrome is a rare genetic disorder caused by the loss of genetic material in the long arm of chromosome 13 (q14 region). This loss affects the function of genes involved in growth and neurodevelopment, resulting in a variety of symptoms. In most cases, the loss occurs as a de novo mutation, but in rare cases it can be inherited.

2. Symptoms

• Developmental delays : Delays in the development of language and motor skills are common.
• Intellectual disability : Mild to moderate intellectual disability may occur.
• Vision and hearing problems : Some patients may experience vision and hearing problems.
• Distinctive facial features : Some patients may have distinctive facial features such as a broad forehead, low nasal bridge, and wide mouth.
• Abnormalities in internal organs : In some cases, abnormalities may be seen in the heart, kidneys, etc.

3. 治療

• Developmental Support and Therapy : Therapeutic treatment is provided to support development through physical, speech and occupational therapy.
• Vision and hearing management : If you have vision or hearing problems, hearing aids or glasses will be recommended as needed.
• Internal organ management : If there are cardiac or renal abnormalities, specialist management is required.

4. Prognosis

With appropriate support and medical management, quality of life can be expected to improve, but prognosis varies from person to person depending on the severity of symptoms and the presence or absence of complications. Early intervention is important.

5. The burden on parents

Since long-term treatment and medical management are required, this often places a financial and psychological burden on children. It is important to establish a support system in cooperation with local support organizations and specialized medical institutions.