FRAXA SYNDROME Meaning and
Definition
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FRAXA syndrome, also known as fragile X syndrome A, is a genetic disorder characterized by intellectual and developmental disabilities, physical features, and behavioral challenges. It is caused by the mutation in the FMR1 gene, which is responsible for producing a protein essential for the proper functioning of the brain.
Individuals with FRAXA syndrome often experience varying degrees of intellectual disability, ranging from mild to severe. They may have difficulties with language and communication, as well as learning and memory retention. Behavioral characteristics commonly associated with FRAXA syndrome include attention deficit hyperactivity disorder (ADHD), anxiety, social difficulties, and autistic-like behaviors.
Physically, individuals with FRAXA syndrome may exhibit distinctive facial features such as a long face, prominent ears, and a prominent jaw. They may also have hyperextensible joints and unusually flexible fingers. Sensory sensitivities and abnormalities in coordination and balance are additional physical traits observed in some individuals with FRAXA syndrome.
FRAXA syndrome is an inherited disorder that follows an X-linked pattern of inheritance, meaning it primarily affects males. Females are generally carriers of the mutated gene and may display milder symptoms. The severity of FRAXA syndrome can vary widely among affected individuals, even within the same family.
Although there is no cure for FRAXA syndrome, early intervention and various therapies can help manage the symptoms and enhance quality of life. These may include speech and language therapy, occupational therapy, behavioral interventions, special education, and medication to address specific symptoms such as anxiety or ADHD. Comprehensive care by a multidisciplinary team is essential in supporting individuals with FRAXA syndrome and their families.
Common Misspellings for FRAXA SYNDROME
- draxa syndrome
- craxa syndrome
- vraxa syndrome
- graxa syndrome
- traxa syndrome
- rraxa syndrome
- feaxa syndrome
- fdaxa syndrome
- ffaxa syndrome
- ftaxa syndrome
- f5axa syndrome
- f4axa syndrome
- frzxa syndrome
- frsxa syndrome
- frwxa syndrome
- frqxa syndrome
- fraza syndrome
- fraca syndrome
- frada syndrome
- frasa syndrome
Etymology of FRAXA SYNDROME
The term "FRAXA syndrome" is derived from the genetic disorder's scientific name "Fragile X Syndrome". This condition was initially named after the X chromosome, where the genetic mutation responsible for the syndrome is located. It was further named "fragile" due to the discovery that the X chromosome appears as a fragile point under a microscope. Specifically, "FRAXA" refers to the fragile site on the X chromosome at Xq27.3, where the gene mutation occurs. Therefore, FRAXA syndrome became an alternative name for Fragile X Syndrome, representing that the syndrome is caused by a fragile site on the X chromosome at a specific location.
