14q11-q22 Deletion Syndrome

1. Causes of the disease

14q11-q22 deletion syndrome is a genetic disorder caused by the deletion of part of a gene on the long arm of chromosome 14 (region q11 to q22). This deletion affects genes important for growth and development, causing physical and neurological symptoms. Most cases are due to de novo mutations, but in rare cases, the condition runs in families.

2. Symptoms

• Growth retardation : Delayed growth in height and weight is common.
• Developmental delays and intellectual disability : There may be developmental delays in language, motor skills, and cognitive abilities.
• Facial characteristics : May have certain facial features (low-set nose, wide mouth, distinctive ear shape).
• Visceral abnormalities : Some patients may have abnormalities of the heart or digestive system.
• Behavioral problems : Some patients may exhibit autism spectrum related behaviors or hyperactivity.

3. Treatment

• Growth support and nutritional management : If needed, nutritional guidance and growth hormone therapy may be provided to support growth.
• Developmental Support : Support development through physical, speech and occupational therapy.
• Visceral management : Cardiac and digestive system abnormalities require specialist management.
• Behavioral Support : Psychological and behavioral therapy may be provided for autism spectrum disorders and hyperactive behaviors.

4. Prognosis

Receiving appropriate support early on can improve quality of life, but prognosis varies from person to person as the severity of symptoms varies.

5. The burden on parents

Medical expenses and long-term support may be required, which can be a financial and time burden. It is important to work with local support services and medical institutions to get the right support.