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
