4q21 Deletion Syndrome

1. Causes of the disease

4q21 deletion syndrome is a genetic disorder caused by the deletion of part of the long arm of chromosome 4 (q21 region). The deletion often occurs as a de novo mutation, but in rare cases it can be inherited from a parent. Symptoms and severity of effects vary depending on the gene affected by the deletion.

2. Symptoms

• Developmental delays : The development of language and motor skills may be delayed and may be accompanied by intellectual disability.
• Facial features : May have specific facial features (broad forehead, narrow eyes, etc.).
• Poor muscle tone : You may experience muscle weakness and problems with mobility.
• Internal organ abnormalities : Some patients may have abnormalities such as heart or kidney abnormalities.
• Behavioral and psychological problems : Behaviors associated with autism spectrum disorder and attention-deficit hyperactivity disorder may be present.

3. Medical Treatment

There is no cure for this condition, but the quality of life can be improved through developmental support, rehabilitation, physical therapy, occupational therapy, speech therapy, etc. Medical management of internal organ abnormalities is also performed as necessary.

4. Prognosis

With the right support, patients can improve their quality of life, but intellectual disability and mobility problems often persist, necessitating long-term care.

5. The burden on parents

The financial burden of medical care and therapy can be large, and parents may have to bear the time and mental burden of providing care and support. Cooperation with local welfare services and support groups is important.