Sotos Syndrome - shsbiogeneticdisorders

Cerebral Gigantism
What is It?
Sotos Syndrome is a rare genetic disorder that
causes extreme amounts of growth during the first
few years of life. Its scientific name is Cerebral
Gigantism. Mainly Slovaks (Ukrainians, Serbian,
Turkish, Albanians), Mandarins (Chinese,
Mongolians, Tibetans), and Eastern Afrikaans
(Cameroon, Ivory Coast, Sudanese) are the ethnic
races that inherit Sotos Syndrome. There have been
cases of Sotos Syndrome in many countries, but all
cases have been traced to the three main ethnicities
The symptoms of Sotos
Syndrome start at birth
and are obvious. Its
characterized by being
taller, bigger, and having a
bulging forehead
(Macrocelphaly) at birth.
The signs of the disorder
vary, but common
symptoms are large heads
with a protruding
forehead, large hands and
feet, hypertelorism
(increased space between
the eyes), down slanting
eyes, an awkward gait,
clumsiness, irritability,
and aggressiveness.
Inheritance and Diagnosis
The disease happens in 1 out 10,ooo to 14,ooo births. Most people who have the syndrome grow into functional
adults; except for a small 2% of children affected by the syndrome acquire tumors within the first 5 years. Sotos
Syndrome causes children to be very susceptible to disease.
Sotos Syndrome doesn’t affect life expectancy. It can’t be diagnosed through Karyotyping or following a family’s
Genotype. There is no known genetic cause. Doctors are only able to diagnose people with the syndrome, through
identifying relevant physical and genetic characteristics. Doctors can diagnose babies with it at birth. To this point
there is no laboratory test conducted to prove that a child or adult has Sotos Syndrome.
There is no known cure or treatment for Sotos Syndrome. There are
“Sotos Groups” in Europe and the U.S. to offer group counseling. It is impossible to
tell whether a couple with one “sotos child” would have a second one with the
syndrome. Genetic counseling is also an option, but because of the lack of genetic
research or evidence, it’s not going to accurately diagnose the cause or progression
of the syndrome.
Interesting Facts
More interesting Facts
 Declared as Sotos Syndrome
 Estimated that people with
in July of 1964 in the New
England Journal of Medicine
 Most people with Sotos
Syndrome go undetected in
the normal population
 The growth defects are very
noticeable at birth but start
to be less obvious as you grow
the disease have a lower IQ in
the range of 20 to 120.
 Slight mental retardation is
an affect of Sotos Syndrome.
Related flashcards


43 cards


13 cards

Create Flashcards