Fragile X Syndrome
Fragile X Syndrome
Fragile X Syndrome (pronunciation: fraj-uh l eks sin-drohm) is a genetic disorder that results in intellectual disability, behavioral and learning challenges, and various physical characteristics.
Etymology
The term "Fragile X" refers to one part of the X chromosome where the gene is located that appears fragile under the microscope. The "X" refers to the X chromosome where the mutation occurs.
Definition
Fragile X Syndrome is a genetic condition involving changes in part of the X chromosome. It is the most common inherited form of intellectual disability in males and a significant cause of intellectual disability in females.
Symptoms
Symptoms of Fragile X Syndrome can include learning disabilities, cognitive impairment, autism, anxiety, hyperactivity, and physical abnormalities such as large ears, long face, soft skin, and large testicles (post-puberty) in males.
Causes
Fragile X Syndrome is caused by a mutation in the FMR1 gene located on the X chromosome. This gene makes a protein needed for normal brain development. The mutation causes the FMR1 gene to make little or none of this protein, leading to the symptoms of Fragile X.
Diagnosis
Diagnosis of Fragile X Syndrome involves genetic testing to identify the mutation in the FMR1 gene. This is often done if intellectual disability, developmental delay, or autism is present without a known cause.
Treatment
There is no cure for Fragile X Syndrome. Treatment involves addressing the symptoms and may include behavioral therapy, speech therapy, and medications for anxiety and hyperactivity.
Related Terms
- Genetic disorder
- X chromosome
- Intellectual disability
- Autism
- Anxiety
- Behavioral therapy
- Speech therapy
External links
- Medical encyclopedia article on Fragile X Syndrome
- Wikipedia's article - Fragile X Syndrome
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