12q14 Microdeletion Syndrome

1. Causes of the disease

12q14 microdeletion syndrome is a genetic disorder caused by the deletion of part of the long arm of chromosome 12 (12q14). This deletion affects genes involved in bone development and growth, and neurodevelopment, resulting in a wide range of symptoms. In many cases, it is caused by a de novo mutation.

2. Symptoms

• Growth retardation : A decrease in height may occur due to insufficient secretion of growth hormone.
• Bone abnormalities : Decreased bone density and impaired bone development have been reported.
• Intellectual disability : Mild to moderate intellectual disability may occur.
• Distinctive facial features : Distinctive facial features may be seen, but vary from person to person.

3. Treatment

• Growth Hormone Therapy : Growth hormone replacement therapy may be given as needed.
• Bone management : Nutritional guidance and appropriate exercise therapy are provided to maintain bone health.
• Developmental Support and Therapy : Developmental supports such as speech and occupational therapy are provided.

4. Prognosis

With appropriate treatment and support, growth and development can be expected to improve. Prognosis varies depending on individual symptoms, so regular medical management is important.

5. The burden on parents

Since support for growth and development and medical management are often required, this can place a heavy financial and emotional burden on parents. It is important to establish links with support groups and specialized medical institutions.