Fragile x syndrome
Fragile X Syndrome
Fragile X Syndrome (pronunciation: fraj-uh l eks sin-drohm) is a genetic disorder that causes a range of developmental problems including learning disabilities and cognitive impairment.
Etymology
The term "Fragile X" is derived from the appearance of the X chromosome under a microscope. In individuals with this syndrome, the X chromosome appears fragile at one end - hence the name.
Definition
Fragile X Syndrome is the most common inherited form of intellectual disability. It is caused by a mutation on the X chromosome, specifically on the FMR1 gene. This gene produces a protein necessary for the normal development of the brain. In individuals with Fragile X Syndrome, the FMR1 gene is mutated and does not produce this essential protein.
Symptoms
Symptoms of Fragile X Syndrome can vary and may include intellectual disability, anxiety, hyperactivity, and physical features such as a long face, large ears, and flat feet.
Diagnosis
Diagnosis of Fragile X Syndrome is typically made through genetic testing to identify the mutation in the FMR1 gene.
Treatment
While there is no cure for Fragile X Syndrome, treatment can help manage symptoms. This may include educational therapy, behavioral therapy, and medication.
Related Terms
External links
- Medical encyclopedia article on Fragile x syndrome
- Wikipedia's article - Fragile x syndrome
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