• Significant cognitive disability (approx. 80% of males and up to 50% of females)

• Speech delay and speech problems: uncommon narrative style, repetitive speech ; the older child may also skip rapidly from topic to topic while in conversation.

• Learning disabilities (may be subtle)

• Fine and gross motor delay  and coordination difficulties

Physical Characteristics

• Elongated face with prominent jaw, which is more obvious after puberty

• Prominent, large ears

• High arched palate

• Large testicles, which are mainly seen after puberty

• Recurrent ear infections

• Connective tissue problems, such as flat feet, loose joints, congenital hip dislocation, scoliosis

• Mitral valve prolapse

• Seizures, including 'absences' (or petit mal)

• Eye problems: nearsightedness and a high incidence of "lazy eye"

In addition, many children with Fragile X have digestive disorders, such as gastric reflux, that can cause gagging, regurgitation, and discomfort.

Behavioral characteristics

• Attention deficit in at least 80% (may be without hyperactivity)

• Autistic-like behaviors (eg. hand flapping and biting, poor eye contact, preoccupation with objects)

• Difficulty adjusting to change

• High anxiety and shyness

• Repetition of words, phrases and actions

• Aversion to loud noise, touch, strong smells, eye contact

• Aggression, depression and mood instability (particularly in adolescence)

These behaviors tend to moderate as the child grows older.

Diagnostic Terms

Some other terms or diagnoses for Fragile X Syndrome (FXS) include:

• FRAXA

• Marker X Syndrome

• Martin-Bell Syndrome

• X-linked Mental Retardation and Macroorchidism

Treatment

At this time, there is no cure for Fragile X syndrome. However, special education, speech and language therapy, occupational therapy and behavioral therapies can be helpful in addressing many of the physical, behavioral, and cognitive impacts of fragile X syndrome. In addition, medical intervention can be helpful for aggression, anxiety, hyperactivity and poor attention span. 

Because the impact of fragile X is so varied, it is important to do a careful evaluation of a person's strengths and weaknesses. 

Long-Term Outcomes

As Fragile X is present throughout life, the outcomes depend on the skills and supports of the individual.  Many adults with Fragile X are employed, live independently and make informed decisions about having a family. 

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