1. Fragile X Syndrome
Misael Morales

2. Disease Description
 Genetic syndrome
 Commonly known as the single-
gene cause of autism and/or
intellectual disability
 Gene for brain development
doesn’t work.
 Ranges from mild to severe
 Affects physical characteristics and
stereotypical movements

3. Challenges of Life with the Disease
 Elongated faces
 Larger ears and testes
 Flat feet
 Low muscle tone
 Sinusitis and/or middle ear infection
 Speech impediment
 Atypical social development
 Shyness
 Memory problems
People with Fragile X
Syndrome also meet the
diagnostic criteria for
autism

4. Life Expectancy and Population
Occurrence
 Approximately 1 out of 4,000 males
 Approximately 1 out of 8,000 females
 Occurs in all racial and ethnic groups
 Doesn’t necessarily shorten the life span

5. Treatment
 No concrete cure
 No definite, single treatment
 Several ways to help minimize the
symptoms
 Appropriate education, behavioral
and physical therapy
 Special medication

6. Allele
 Located on the X chromosome
 Since it is changed, the needed protein
for brain and mental development isn't
produced
 Purely genetic

7. Symptoms
 Facial/physical traits  Hyperactivity
 Stereotypical movements  Self talk
 Nervous speech  Lazy eye
 Social anxiety  Seizures
 Learning disabilities  Obsessive compulsive disorder
 Attention deficit disorder  Demetia

8. Bibliography
 http://en.wikipedia.org/wiki/Fragile_X_syndrome
 http://www.medicinenet.com/fragile_x_syndrome/article.ht
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 http://www.marchofdimes.com/baby/birthdefects_fragilex.h
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