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$Title{Sotos Syndrome}
$Subject{Sotos Syndrome Cerebral Gigantism }
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Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc.

271:
Sotos Syndrome

** IMPORTANT **
It is possible the main title of the article (Sotos syndrome) is not the
name you expected.  Please check the SYNONYMS listing to find the alternate
names and disorder subdivisions covered by this article.

Synonyms

     Cerebral Gigantism

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Sotos Syndrome is a rare, hereditary disorder characterized by excessive
growth over the 90th percentile during the first 4 to 5 years of life,
combined with mild mental retardation.

Symptoms

The primary symptom of Sotos Syndrome is excessive growth during the first 4
to 5 years of life.  Symptoms may also include an unusual aggressiveness or
irritability, clumsiness and an awkward gait.  People with this disorder have
abnormal dermatoglyphics, or patterns of the ridges on the skin of the
fingers, palms, toes and soles.  Bone age tends to be 2 to 4 years advanced,
and patients have a disproportionately large and long head, with a slightly
protrusive forehead, large hands and feet.  The age of the teeth appears 1 to
2 years advanced.  Physical characteristics also include eyes which appear to
be abnormally far apart (hypertelorism) and slanted.  Not all of these
features, however, are present in every case.  Mild mental retardation also
occurs.

Differential diagnosis of Sotos syndrome should include tests for XYY
Syndrome.  Endocrine evaluation of growth hormone, urinary steroid excretion,
adrenopituitary interrelationships, glucose and fatty acid metabolism usually
show no abnormalities.  However, patients with Sotos Syndrome do sometimes
have high levels of the amino acids valine, isoleucine and leucine in the
blood.  Children with Sotos syndrome should be tested for primary
hypothyroidism and for elevated growth hormone levels.

Causes

Most cases of Sotos syndrome are sporadic.  Though the exact mode of
transmission of this disorder is not known, it has been postulated that it
may be an autosomal recessive trait in some cases.  In a number of instances,
a dominant hereditary pattern has been well documented.

Human traits including the classic genetic diseases, are the product of
the interaction of two genes for that condition, one received from the father
and one from the mother.

In recessive disorders, the condition does not appear unless a person
inherits the same defective gene from each parent.  If one receives one
normal gene and one gene for the disease, the person will be a carrier for
the disease, but usually will show no symptoms.  The risk of transmitting the
disease to the children of a couple, both of whom are carriers for a
recessive disorder, is twenty-five percent.  Fifty percent of their children
will be carriers, but healthy as described above.  Twenty-five percent of
their children will receive both normal genes, one from each parent and will
be genetically normal.

In dominant disorders, a single copy of the disease gene (received from
either the mother or father) will be expressed "dominating" the normal gene
and resulting in appearance of the disease.  The risk of transmitting the
disorder from affected parent to offspring is 50% for each pregnancy
regardless of the sex of the resulting child.

Another theory ascribes the disorder to impaired function of the
hypothalamic-pituitary axis.

Affected Population

Sotos Syndrome affects males and females equally.

Related Disorders

There are a number of disorders associated with tall stature or mental
retardation (pituitary giantism, Marfan's syndrome, homocystinuria,
acromegaly) and these conditions should be distinguished from Sotos syndrome.

Acromegaly is a chronic metabolic disease in which an excess of growth
hormone causes enlargement of various tissues of the body.  The jaw, hands,
feet and face all appear disproportionately large as a result of the excess
of growth hormone, but it is the enlargement of the soft tissues of the heart
which poses the most serious health problem.  Untreated, acromegaly can be
life threatening.  The most serious complications are cerebrovascular
disease, heart failure and, less often, lung disease.  Psychological malaise
may result from the sometimes extensive cosmetic changes caused by both
acromegaly and Sotos syndrome.  (For more information, choose "acromegaly" as
your search term in the Rare Disease Database.)

Therapies:  Standard

Prognosis of Sotos Syndrome is good, with the initial abnormalities resolving
as the growth rate becomes normal after the first 4 to 5 years of life.
Medical treatment is symptomatic and supportive.  Special education services
may be required during school years for the patients affected with mental
retardation.  When mental retardation occurs, it is not progressive.

Therapies:  Investigational

This disease entry is based upon medical information available through
January 1990.  Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.

Resources

For more information on Sotos Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     Sotos Syndrome Support Association
     737 Shandra St.
     Ballwin, MO  63021
     [phone]

     Dr. Juan Sotos
     C-404
     Children's Hospital
     700 Children's Drive
     Columbus, OH 43205

     Sotos Syndrome Support Group of Great Britain
     Mrs. Bridget Veitch
     Kilndown House
     Kilndown Cranbrook
     Kent, England TN17 2SG
     0892-890-397

     NIH/National Institute of Child Health and Human Development (NICHHD)
     9000 Rockville Pike
     Bethesda, MD 20892
     [phone]

For genetic information and genetic counseling referrals, please contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

Current Medical Information & Terminology:  Finkel et al., eds.:  American
Medical Association (1981).

The Merck Manual of Diagnosis and Therapy:  Berkow et al, eds.:  Merck Sharp &
Dohme (1982).