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Fragile X syndrome (FXS) is a genetic condition that

causes intellectual disabilities, behavioral and learning


challenges and various physical deformities. The disorder is
an inherited, dominant, X linked condition caused by the
expansion or lengthening of the FMR1 gene on the X
chromosome, which is a gene mutation.

Symptoms:
Delay in crawling/walking
Hand clapping/ hand biting
Hyperactive behavior
Tendency to avoid eye contact
Delayed development in speech
Physical Signs/ Symptoms:
Flat feet
Flexible joints
Large body size
Large forehead
Large ears
Long face

Diagnosis/ Treatment:
The most common form of diagnosis is molecular
genetic testing of the FMR1 gene (DNA Blood Test). If you
are tested positive for having the disorder there is no
specific treatment/ medicine you can take. Instead, training
and education have been developed to help children with the
disorder.

Demographics/ Statistics:
This disorder is more common in males than
females since it is a mutation on the X
chromosome and males have two X chromosomes
1 in 4,000 males have this disorder and 1 in 8,000
females have this disorder
Males are more severely affected by this disorder
than females are

Research:
Research for Fragile X syndrome is place all over the
world, but in America the NFXF (National Fragile X
Foundation) is a large research foundation. Scientists and
doctors are preforming clinical trials to find new medications
and treatments, and trying to better understand how to deal
with the symptoms and different disorders that are
associated with Fragile X. Research is mainly funded by
donations from people like you.

Social and/or Ethical Concerns:


Peoples with this disease can have physical
deformities (mostly males) that could be poked fun
at such as long and narrow faces, large ears, and
large foreheads
People with this disorder can have behavioral
issues which could lead to social problems

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