People affected by Fragile X syndrome have a normal life expectancy. They do not suffer from major medical problems because of the syndrome and thus are generally healthy. However, there are some medical factors which may be more common in those with fragile X syndrome.

Common Medical Issues:

• Problems with connective tissue can lead to flat feet and low muscle tone.
• Eyelids that tend to puffiness and chests with a
  ‘hollow’ look are features which probably also relate to this problem.
• The joints are often extremely flexible and may be subject to dislocation.
• Hernias are sometimes present.
• Children, especially boys, are particularly prone to ear infections (otitis media). It is very important that every occurrence of ear infection is treated quickly, as problems inspeech and language can be increased if there is even a slight temporary hearing loss.
• Eye problems can include squint (strabismus), long sightedness and visual perceptual problems.
• About one in four people with fragile X have epilepsy which can be generalised or focal (grand mal, petit mal or absences, or complex partial seizures). Seizures usually begin in childhood or adolescence and are not frequent, often being outgrown before adulthood.
• A few people have heart valve problems (mitral valve prolapse), which may show up in late adolescence to early adulthood. Hence annual medical review is recommended.
• Many boys develop enlarged testicles (macroorchidism) after puberty, but this does not seem to pose any medical problems.
• Women with the premutation can have premature menopause. In extreme cases this can occur in the early twenties.

FXTAS

Some male carriers, very often grandfathers of children with Fragile X Syndrome, may suffer from FXTAS (Fragile X-associated tremor/ataxia syndrome). This is a neurological disorder which can cause progressively worsening tremors as well as balance and co-ordination problems, cognitive and psychological changes. .

FXPOI

Female carriers may suffer from FXPOI (Fragile X-associated primary ovarian insufficiency) which leads to infertility and early menopause in some female gene carriers.