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Fragile X Syndrome Pictures

What is Fragile X Syndrome

Fragile X syndrome is the most common, heritable and genetic disorder in males. It causes intellectual abnormalities including mental retardation. It is caused due to some changes in the X chromosome. Females may also develop the disorder, but they are less vulnerable because of the presence of two X chromosome in them.

Fragile X syndrome is caused due to a change in the gene FMR1. This gene is responsible for the normal development and growth of the brain. This function is affected in individuals with fragile X syndrome, due to the replication of a part of the gene code in the fragile area of X chromosome.

Fragile X Syndrome Symptoms

Some of the symptoms of fragile X syndrome are as follows:
Intellectual and learning disabilities including mental retardation
Speech and language disabilities and problems in self-expression.
Increased rate of speech or rambling
Increased sensitivity to certain sensations and autism-like behaviors.
Higher incidence-rate of other disorders like ADHD, seizures, dislocation of joints, etc.

Physical features

Many infants and young children with Fragile X have no distinctive physical features. Some children have
As children, some individuals may have very soft and velvety skin, a prominent forehead and /or a little larger head. These abnormalities go away after adolescence.
Individual tend to be shorter in comparison to family members
Many males grow enlarged testicles. However, it does not affect sexual development and is not caused due to hormonal imbalance.
Weakened connective tissues cause loose and flexible joints. In addition, the feet may be flat and the joints like the knee, thumb, and elbow can be extended further than normal.
Increased predisposition to conditions like hernia and frequent middle ear infections.
Heart defects causing a heart murmur
At a later stage in life, males may have difficulty walking and may develop hand tremors.

Social and Emotional features

Increased social anxiety and discomfort in associating with new people or situations and doing new activities.
Tendency to get easily upset and rigidity of routine
Temper tantrums and compulsive acts like biting oneself and repetitively rocking back and forth.
Hormonal changes may give rise to extreme rage outbursts and increased aggression

Fragile X Syndrome Causes

As mentioned above, fragile X syndrome is caused due to abnormalities in the X chromosome.

Fragile X Syndrome Treatment

Fragile X syndrome has no cure. However the various symptoms can be treated with relevant medications and psychotherapies for behaviour medication and inculcation of skills.

Support Groups for fragile X Syndrome

National Fragile X Foundation — www.nfxf.org