14q24.1-q24.3 Microdeletion Syndrome

1. Causes of the disease

14q24.1-q24.3 microdeletion syndrome is a rare genetic disorder caused by a deletion of the long arm of chromosome 14 (region q24.1 to q24.3). This deletion results in the loss of certain genes that affect development and growth, which can result in a variety of physical and neurodevelopmental effects.

2. Symptoms

• Developmental delays : Delays in the development of language, motor skills, and cognitive abilities are common.
• Intellectual disability : Mild to moderate intellectual disability may be reported.
• Distinctive facial features : Distinctive facial features may be seen, but there is considerable individual variation.
• Bone and visceral abnormalities : Some patients may have abnormalities in the formation of bones and internal organs.
• Behavioral problems : Behaviors associated with the autism spectrum and hyperactive behaviors may be present.

3. Treatment

• Developmental Support : Developmental support is provided through physical therapy, occupational therapy, speech therapy, etc.
• Behavioral therapy : Psychological therapy and counseling for behavioral disorders may be offered.
• Medical management : If there are abnormalities of the internal organs or bones, specialist management is required.

4. Prognosis

With proper support and medical management, quality of life can be improved, but prognosis depends on the severity of the condition and any complications.

5. The burden on parents

Since long-term treatment and medical management are often required, this can be financially and psychologically burdensome, so cooperation with support services and medical institutions is important.