Xp11.23 Microdeletion Syndrome

1. Causes of the disease

Xp11.23 microdeletion syndrome is caused by a partial deletion of genetic information in the p11.23 region of the X chromosome. This deletion causes reduced genetic function with various effects on development, behavior, and physical characteristics. It usually results from a de novo mutation, but can also be inherited.

2. Symptoms

• Developmental delays : Development of language and motor skills may be delayed.
• Intellectual disability : Mild to moderate intellectual disability may occur.
• Behavioral problems : Autism-related behaviors and learning disabilities may be present.
• Peculiar facial features : Some patients may have distinctive facial and physical characteristics.
• Abnormalities in internal organs : It may affect the kidneys, heart, etc.

3. Treatment

• Developmental Support : Supporting patient development through physical, occupational and speech therapy.
• Behavioral Management : Psychological and behavioral therapy is provided to address behavioral issues.
• Visceral management : Medical support for visceral abnormalities will be provided as needed.

4. Prognosis

Early and appropriate support can improve the quality of life. Individual prognosis may vary depending on the severity of symptoms and whether or not appropriate support is provided.

5. The burden on parents

Long-term medical care and therapy are necessary, which can place a financial and psychological burden on families. It is important to cooperate with support groups and medical institutions and receive appropriate support.