Fragile X syndrome Flashcards
1
Q
what is it?
A
It is an inherited genetic condition caused by a mutation of a single gene —
FMR1 — located on the X chromosome
2
Q
what is the prevalence?
A
1 in 4,000 - 7,000 males and about 1 in 6,000 - 11,000 females
diagnosed with FXS (National Fragile X Foundation website) – from all ethnic and
socio-economic backgrounds
3
Q
key characteristics
A
-Large head
-prominent/large low set ears, chin and forehead
-a long face
-flexible joints
-flat feet
-macroorchidism (enlarged testicles in post-pubertal males)
4
Q
Supports needed
A
therapies, medication control, support groups etc..
