21q22.11-q22.12 Microdeletion Syndrome

1. Causes of the disease

21q22.11-q22.12 microdeletion syndrome is a rare genetic disorder caused by a deletion of the long arm of chromosome 21 (region 21q22.11 to 21q22.12). This deletion affects multiple genes, resulting in a variety of symptoms related to the nervous system, development, and visceral function.

2. Symptoms

• Developmental delays : Delays in the development of language and motor skills are observed.
• Intellectual disability : Mild to moderate intellectual disability may be present.
• Behavioral abnormalities : Autism spectrum disorders and behavioral problems may be present.
• Physical characteristics : Certain facial and body morphological abnormalities may be present, but vary from person to person.
• Internal organ abnormalities : Some patients may have abnormalities of the heart or other internal organs.

3. Treatment

• Developmental Support : Support development through physical, occupational and speech therapy.
• Visceral Management : Appropriate medical management of visceral abnormalities is provided, as required.
• Behavioral Support : Addressing behavioral issues through behavioral and psychological therapy.

4. Prognosis

With the right medical care and support, it is possible to improve your quality of life. Individual prognoses may vary depending on the severity of the condition and whether the right support is provided.

5. The burden on parents

Long-term therapy and medical support are required, which can place a psychological and financial burden on families. It is important to receive appropriate support through cooperation with support groups and medical institutions.