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$Unique_ID{BRK03973}
$Pretitle{}
$Title{Marshall-Smith Syndrome}
$Subject{Marshall-Smith Syndrome MSS Weaver Syndrome Gigantism Sotos Syndrome
McCune-Albright Syndrome }
$Volume{}
$Log{}
Copyright (C) 1990 National Organization for Rare Disorders, Inc.
820:
Marshall-Smith Syndrome
** IMPORTANT **
It is possible that the main title of the article (Marshall-Smith
Syndrome) is not the name you expected. Please check the SYNONYM listing to
find the alternate names and disorder subdivisions covered by this article.
Synonyms
MSS
Information on the following disorders can be found in the Related
Disorders section of this report:
Weaver Syndrome
Gigantism
Sotos Syndrome
McCune-Albright Syndrome
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.
Marshall-Smith Syndrome is characterized by unusually quick physical
growth and bone development (maturation), usually starting before birth.
Other symptoms can include respiratory difficulties, mental retardation, and
certain physical characteristics. (Note: Marshall-Smith Syndrome is not to
be confused with "Marshall" Syndrome, which is very different from "Marshall-
Smith" Syndrome).
Symptoms
In patients with Marshall-Smith Syndrome growth and bone development
(maturation) occur faster than normal. The individual is underweight in
relation to his or her height and does not thrive well. Other symptoms
include diminished muscle tone (hypotonia), muscle weakness, hernias in the
abdomen (umbilical hernias), and/or mental retardation. Slow development of
voluntary movements (psychomotor retardation) may also occur.
Breathing (respiratory) difficulties commonly occur in patients with
Marshall-Smith Syndrome. High-pitched noisy breathing which sounds similar
to the wind blowing (stridor), extension of the neck beyond normal limits
(hyperextension), or the tongue obstructing the air passage may occur.
Physical characteristics of Marshall-Smith Syndrome include excessive
hair growth (hypertrichosis), a long head with a prominent forehead,
prominent eyes, and/or an upturned nose with a low nasal bridge. The white
of the eye (sclerae) may appear bluish. The angle of the lower jawbone on
each side of the face as it joins in the front to form the chin (mandibular
ramus) may be smaller than average. Generally, the bones of the fingertips
(distal phalanges) are narrow but the rest of the bones in the fingers
(proximal and middle phalanges) are broad.
Infrequently, the leaf-shaped structure in the throat which normally
prevents food or liquid from passing into the windpipe (epiglottis) may not
develop properly in some patients with Marshall-Smith Syndrome. Absent
and/or smaller than normal openings leading from the nasal passages into the
post-nasal space (choanal atresia and/or stenosis), an abnormal larynx and/or
soft cartilage of the larynx (laryngomalacia), a short breastbone (sternum),
or a deep crease between the big toe (hallux) and second toe may occur in
some patients.
Occasionally, brain abnormalities such as atrophy (cerebral atrophy),
larger than normal convolutions of the cerebral cortex (macrogyria), or an
absent corpus collosum may occur. (For more information on absence of the
corpus collosum, choose "corpus collosum" as your search term in the Rare
Disease Database). Defects in the immune system (immunologic defect) are
sometimes present. Although rare, some babies with Marshall-Smith Syndrome
are born with a sac containing part of the intestines protruding outside the
abdominal wall, with the umbilical cord attached (omphalocele).
Causes
The exact cause of Marshall-Smith Syndrome is unknown. There is no evidence
that it is genetic.
Affected Population
Marshall-Smith Syndrome is a rare disorder present at birth affecting males
and females in equal numbers. Symptoms of the syndrome are usually present
before birth (prenatal onset).
Related Disorders
Weaver Syndrome is similar to Marshall-Smith Syndrome in that growth and bone
maturation occur faster than normal. However, patients with Weaver Syndrome
have normal to above normal weight in relation to their height whereas
patients with Marshall-Smith Syndrome are underweight in relation to their
height. There are other differences as well. For example, Marshall-Smith
Syndrome patients have different physical characteristics, respiratory
difficulties, and other symptoms that patients with Weaver Syndrome do not
have. (For more information on Weaver Syndrome, choose "Weaver" as your
search term in the Rare Disease Database).
Gigantism occurs before puberty and is caused by oversecretion of growth
hormone. It is characterized by excessive growth during childhood with
relatively normal body proportions and sexual development. Height sometimes
reaches 7 or 8 feet. Soft tissues are also enlarged. In extreme cases,
disease of muscle tissue (myopathy) and abnormalities of nerves distant from
the brain and spinal cord (peripheral neuropathy) may occur. Certain
hereditary syndromes such as Klinefelter Syndrome, Marfan Syndrome, and some
of the lipodystrophies, may include tallness among their symptoms. (For more
information choose "gigantism, ""giant," or "peripheral neuropathy" as your
search term in the Rare Disease Database).
Soto's Syndrome is a rare, hereditary disorder characterized by excessive
growth (over the 90th percentile) during the first 4 to 5 years of life.
Abnormalities of the nervous system, including aggressiveness, irritability,
clumsiness, an awkward gait, and mental retardation sometimes also occur.
Physical characteristics also include eyes which appear to be abnormally far
apart (hypertelorism) and slanted. (For more information, choose "Soto" as
your search term in the Rare Disease Database.)
McCune-Albright Syndrome (Osteitis Fibrosa Disseminata) is characterized
by an early (precocious) sexual development, a change in bone integrity
which produces pain, increasing deformity and disability, and possible
changes in skin pigmentation. This syndrome involves the endocrine, muscle
and bone systems. Excessive secretion of growth hormone as well as other
hormones occurs in some cases. Children with McCune-Albright Syndrome are
excessively tall during childhood, but their growth stops early and they
usually don't reach normal height during adulthood. (For more information,
choose "McCune-Albright" as your search term in the Rare Disease Database.)
Therapies: Standard
Treatment of Marshall-Smith Syndrome is symptomatic and supportive.
Aggressive treatment of breathing (respiratory) difficulties is necessary.
Special education and related services will be necessary during school years.
Therapies: Investigational
This disease entry is based upon medical information available through
January 1991. 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 Marshall-Smith Syndrome, please contact:
National Organization for Rare Disorders
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The Magic Foundation
1327 N. Harlem Ave.
Oak Park, IL 60302
(708) 383-0808
Human Growth Foundation (HGF)
7777 Leesburg Pike
P.O. Box 3090
Falls Church, VA 22043
(703) 883-1773
(800) 451-6434
NIH/National Institute of Child Health and Human Development
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth Lyons
Jones, M.D.; W.B. Saunders Co., 1988. Pp. 134-135.
MARSHALL-SMITH SYNDROME: NEW ASPECTS. A. M. Roodhooft, et al.;
Neuropediatrics (Nov 1988; issue 19 (4)). Pp. 179-182.
MARSHALL-SMITH SYNDROME: TWO CASE REPORTS AND A REVIEW OF PULMONARY
MANIFESTATIONS. J. P. Johnson, et al.; Pediatrics (Feb 1983; issue 71 (2)).
Pp. 219-223.
THE SYNDROMES OF MARSHALL AND WEAVER. N. Fitch; J Med Genet (Jun 1980;
issue 17 (3)). Pp. 174-178.