FRAXE SYNDROME Meaning and
Definition
-
FRAXE syndrome, also known as fragile XE syndrome or Martin-Bell syndrome variant, is a rare genetic disorder that affects individuals typically males. It is characterized by intellectual disability, communication difficulties, and behavioral challenges. The term "FRAXE" refers to the location of a specific gene mutation on the X chromosome, which is responsible for this syndrome.
Individuals with FRAXE syndrome often exhibit cognitive impairments, including learning disabilities and developmental delays. They may have difficulty with language acquisition and expression, which can manifest as speech delays, limited vocabulary, and problems with articulation. Some affected individuals may also experience behavioral abnormalities, such as attention-deficit hyperactivity disorder (ADHD), aggression, anxiety, and mood instability.
Physically, individuals with FRAXE syndrome may display distinctive features, including a long face, large ears, and macroorchidism (enlarged testicles). Although the syndrome predominantly affects males, females who carry the gene mutation can also be mildly affected.
FRAXE syndrome is caused by a mutation in the AFF2 (FMR2) gene, which impairs the production of a specific protein involved in regulating gene expression. This mutation is inherited in an X-linked recessive manner, meaning that affected individuals have inherited the mutation from a carrier mother.
Diagnosis of FRAXE syndrome is typically made based on clinical features, family history, and genetic testing. Management of the disorder involves a multidisciplinary approach, including educational interventions, speech therapy, behavioral interventions, and counseling for affected individuals and their families.
Overall, FRAXE syndrome is a complex genetic disorder that can significantly impact an individual's cognitive abilities, communication skills, and behavior.
Common Misspellings for FRAXE SYNDROME
- draxe syndrome
- craxe syndrome
- vraxe syndrome
- graxe syndrome
- traxe syndrome
- rraxe syndrome
- feaxe syndrome
- fdaxe syndrome
- ffaxe syndrome
- ftaxe syndrome
- f5axe syndrome
- f4axe syndrome
- frzxe syndrome
- frsxe syndrome
- frwxe syndrome
- frqxe syndrome
- fraze syndrome
- frace syndrome
- frade syndrome
- frase syndrome
Etymology of FRAXE SYNDROME
The word "FRAXE Syndrome" is derived from its scientific name, Fragile X E (e stands for the variant of the gene) Syndrome.
The term "Fragile X" refers to a specific genetic condition called Fragile X Syndrome. This syndrome was named after the characteristic appearance of certain X chromosomes under a microscope. Individuals with this condition have a particular part of their X chromosome that appears thin and weak, or "fragile".
The suffix "E" in "FRAXE Syndrome" stands for an altered form of the Fragile X gene, known as FRAXE. This gene is located on the X chromosome and is associated with a different but related genetic disorder.
Overall, "FRAXE Syndrome" is named after the Fragile X chromosome and denotes the specific genetic variant (FRAXE) associated with this syndrome.
Infographic
Add the infographic to your website:
