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Sotos Syndrome (Cerebral Gigantism)
Transcript
Sotos Syndrome
A.K.A. Cerebral Gigantism
Sotos Syndrome is caused by the mutation of a gene on the 5th chromosome. The effects of the mutation are noticeable within the first few years of life. At birth, most children with this disease will be taller and heavier than average and will have enlarged heads, which is known as macrocrania. This disease usually comes along with mild mental retardation, low muscle tone (a.k.a. hypotonia), and impaired motor cognitive and social development.
Signs and Symptoms
- Abnormal height at birth (tall)
- Abnormal weight at birth (heavy)
- Mild retardation
- Speech impairment
- Hypotonia (low muscle tone)
So how is it treated?
There is no real treatment for Sotos Syndrome. The only treatment is for the individual symptoms.
So what's the prognosis?
Fortunately, many people with this disorder mangage to grow out of it as they age and their body enters into a normal growth rate. The life expectancy for people affected by this disorder is normal as this is not a life-threatening disorder. Furthermore, people who have this disorder tend to have normal intelligence and grow out of the mental retardation that they may have had when they were younger. All in all, the prognosis is usually a good one.
What research is being done?
The only real research being done for this disease is based on understanding the genes that affect the brain's function and development. This kind of research is being done by many different research groups.
QUIZ QUESTION #1
Which is not a symptom of Sotos Syndrome?
a) Enlarged head
b) Breathing difficulties
c) Abnormal height at birth
d) Mild retardation
QUIZ QUESTION #2
How does someone get this disorder?
a) Genetics
b) Infection
c) Bad luck
d) All of the above
QUIZ QUESTION #3
What is the nickname of this disorder?
a) Big head Syndrome
b) Cerebral Gigantism
c) Hypotonia
d) Sotos Syndrome
QUIZ QUESTION #4
What is hypotonia?
a) Enlarged head
b) Eyes that are spread apart
c) Low muscle tone
d) Discoloration of the skin
QUIZ QUESTION #5
When do the symptoms become noticable?
a) Once puberty starts
b) All of their life
c) Adulthood
d) At birth
What is Sotos Syndrome?
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