Fragile X syndrome is a genetic disorder caused by a mutation in the FMR1 gene located on the X chromosome.
The syndrome follows an X-linked dominant pattern, primarily affecting males, though females can also be carriers or exhibit milder symptoms.
Individuals with Fragile X syndrome may experience intellectual disabilities of varying degrees.
Common physical traits include a long and narrow face, large ears, flexible joints etc
Behavioral characteristics may include social anxiety, hyperactivity, hand-flapping, and difficulties with sensory processing.
Fragile X syndrome can be diagnosed through genetic testing, typically through a blood sample.
There is no cure for Fragile X syndrome, but early intervention and therapies can help manage symptoms and improve quality of life.
It is one of the most common inherited causes of intellectual disabilities, affecting both genders, but more commonly observed in males.
World Fragile X Awareness Day is observed on July 22nd each year to raise awareness about Fragile X syndrome and show support for affected individuals and their families.
COMMENTS