15q26-qter Deletion Syndrome

1. Causes of the disease

15q26-qter deletion syndrome is a genetic disorder caused by the deletion of genes located at the end of the long arm of chromosome 15 (from q26 to the terminal region). This deletion results in the loss of important genes that affect development, growth, and neurological function, which can lead to a variety of symptoms.

2. Symptoms

• Growth retardation : Retardation of growth in height and weight is common.
• Intellectual disability : May be accompanied by moderate to severe intellectual disability.
• Heart abnormalities : Some patients may have congenital abnormalities of the heart.
• Facial characteristics : People may have distinctive facial features such as a broad forehead, low nasal bridge, and widely spaced eyes.
• Muscle weakness : Muscle weakness can decrease, affecting your ability to exercise.

3. Treatment

• Developmental Support and Therapy : Developmental support such as physical therapy, speech therapy, and occupational therapy is provided.
• Cardiac Management : If you have a cardiac condition, you will need specialist management.
• Strengthening muscles : Rehabilitation and physical therapy may be used to support muscle strength.

4. Prognosis

The prognosis varies depending on the severity of the symptoms and whether or not there are any complications, but early and appropriate medical care and support are important. Medical management and rehabilitation are expected to improve the quality of life of patients.

5. The burden on parents

Since long-term medical management and rehabilitation are required, which can place a large financial and mental burden on patients, it is important to cooperate with medical institutions and support groups and establish a support system.