10q26 Deletion Syndrome

1. Causes of the disease

10q26 deletion syndrome is a genetic disorder caused by the deletion of part of the long arm of chromosome 10 (q26 region). This deletion causes the loss of genes that affect neurodevelopment, physical growth, and organ function, resulting in a variety of symptoms. It usually occurs as a new mutation.

2. Symptoms

• Developmental delays and intellectual disability : Delays in language, motor skills, and cognitive skills are common.
• Distinctive facial features : Some patients have distinctive facial features (such as a broad nasal bridge, narrow forehead, and thin lips).
• Abnormalities in internal organs : Abnormalities in the heart, urinary system, digestive system, etc. may be seen.
• Behavioral problems : Autism spectrum disorder and hyperactive behavior may be present.

3. Treatment

• Developmental support and therapy : Therapeutic support is provided using speech therapy, physical therapy, and occupational therapy.
• Visceral management : Appropriate medical management is provided for visceral abnormalities.
• Behavioral Support : Psychological and behavioral therapy is provided to support behavioral issues.

4. Prognosis

With proper medical care and education, it is possible to improve the quality of life of patients, but this varies from person to person depending on the severity of symptoms and complications, and long-term support is required.

5. The burden on parents

Since long-term treatment and medical management are required, this can place a large financial and time burden on parents. It is important to cooperate with medical institutions and local support services to receive support.