16p12.2 Deletion (Proximal) Syndrome

1. Causes of the disease

16p12.2 deletion (proximal) syndrome is a genetic disorder caused by the deletion of part of the short arm (p12.2) of chromosome 16. This deletion impairs the function of genes involved in neurodevelopment and physical growth, causing a variety of symptoms. In many cases, the condition is caused by a new mutation.

2. Symptoms

• Developmental delays : Developmental delays in language and motor skills are observed.
• Intellectual disability : Mild to moderate intellectual disability has been reported.
• Behavioral problems : Autism-related behaviors, hyperactivity, and attention deficits may be present.
• Abnormalities in internal organs : Abnormalities in the internal organs, such as the heart and kidneys, may be present.
• Physical Characteristics : People may have distinctive facial features, but there is considerable individual variation.

3. Treatment

• Developmental support : Developmental support is provided using speech therapy, occupational therapy, physical therapy, etc.
• Behavioral Therapy : Psychological and behavioral therapy is offered for behavioral issues.
• Management of internal organs : If necessary, specialized treatment will be provided for any abnormalities in the internal organs.

4. Prognosis

With the right medical care and support, development and quality of life can be improved, but prognosis varies depending on the individual’s condition.

5. The burden on parents

The need for long-term medical and behavioral support can place a heavy financial and emotional burden on patients, so it is important to work with local support and medical institutions to receive appropriate support.