Tetrasomy 18p Syndrome

1. Causes of the disease

Tetrasomy 18p syndrome is an extremely rare chromosomal abnormality that occurs when part of the short arm of chromosome 18 (18p) doubles to four. This abnormality causes multiple symptoms that affect development, growth, and internal organ function.

2. Symptoms

• Developmental delay : noticeable delay in language and motor skills.
• Decreased muscle tone : Muscle weakness and abnormal muscle tone may be observed.
• Specific facial features : A distinctive facial appearance may be observed.
• Intellectual disability : Mild to severe intellectual disability may occur.
• Skeletal abnormalities : Scoliosis and abnormalities of the hands and feet may be present.
• Visceral abnormalities : Abnormalities of the internal organs, such as the heart and kidneys, may be seen.

3. Treatment

• Developmental Support : We provide physical, occupational and speech therapy to support development.
• Visceral Management : Appropriate medical management is provided for cardiac and renal abnormalities.
• Management of skeletal abnormalities : Orthopedic surgery may be performed if necessary.

4. Prognosis

Depending on the severity of the condition and how it is managed, early help can help reduce symptoms and improve quality of life.

5. The burden on parents

Long-term treatment and medical management are required, which can be a huge burden for families. It is important to work with support groups and medical teams to receive appropriate support.