Kleefstra Syndrome 1 (KLEFS1)

1. Causes of the disease

Kleefstra syndrome 1 (KLEFS1) is a genetic disorder caused by mutations or deletions in the EHMT1 gene on chromosome 9. This gene is involved in regulating nervous system development and gene expression, and mutations in the gene disrupt normal neurodevelopment. It often arises from a de novo mutation, but can also be inherited genetically.

2. Symptoms

• Developmental delays : Development of language, motor and social skills is often delayed.
• Intellectual disability : People may have mild to severe intellectual disabilities and need help with learning and daily activities.
• Behavioral abnormalities : Autism spectrum related behaviors, hyperactivity and attention deficits may be seen.
• Characteristic facial features : Characteristic facial features such as narrow palpebrals, thick eyebrows, and a protruding upper lip may be present.
• Cardiac and urinary abnormalities : Some patients may have abnormalities of the cardiac and urinary systems.

3. Treatment

• Developmental support and therapy : Speech, occupational and physical therapy are used.
• Behavioral Therapy : Behavioral therapy and counseling are available to help with autism-related behaviors.
• Medical Management : Appropriate treatment for visceral abnormalities is required.

4. Prognosis

It is expected that quality of life will improve with appropriate support and medical care, but prognosis varies depending on the severity of symptoms. Continuous support is necessary.

5. The burden on parents

Since long-term medical care and therapy are required, which can place a large burden on parents, it is important to establish an appropriate support system by utilizing specialized medical institutions and local support.