CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0420/04202.txt

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$Unique_ID{BRK04202}
$Pretitle{}
$Title{Russell-Silver Syndrome}
$Subject{Russell-Silver Syndrome Silver-Russell Syndrome Russell Syndrome
Silver Syndrome Asymmetry-Dwarfism Achondroplasia Prader-Willi Syndrome
Cornelia-de Lange Syndrome }
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$Log{}

Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc.

377:
Russell-Silver Syndrome

** IMPORTANT **
It is possible the main title of the article (Russell-Silver Syndrome) is
not the name you expected.  Please check the SYNONYMS listing on the next
page to find alternate names, disorder subdivisions, and related disorders
covered by this article.

Synonyms

     Silver-Russell Syndrome
     Russell Syndrome
     Silver Syndrome
     Asymmetry-Dwarfism

Information on the following diseases can be found in the Related
Disorders section of this report:

     Achondroplasia
     Prader-Willi Syndrome
     Cornelia-de Lange 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.

Russell-Silver Syndrome is a growth disorder commonly thought of as a
type of dwarfism.  It can be diagnosed before birth.  People with this
disorder are often very short (although some may attain normal height in
adulthood) and have shortened arms, small triangular-shaped faces and light
brown spots on their skin.  Intelligence is often normal although in some
cases mental retardation may occur.  Children may reach puberty earlier than
usual.  Some developmental abnormalities tend to improve with age.

In some cases of this disorder, organs are larger on one side of the body
than the other (asymmetry).  These cases are sometimes known as Silver
Syndrome.  Other cases involving normal sized organs on both sides of the
body are sometimes known as Russell Syndrome.  Therefore, patients may be
diagnosed as having Russell Syndrome, Silver Syndrome, Russell Silver
Syndrome or Silver Russell Syndrome.

Symptoms

Full term infants with Russell-Silver Syndrome are usually small at birth and
may remain short throughout life.  A small triangular face with corners of
the mouth turned down and a prominent forehead are also initial signs of this
disorder.  Other symptoms may include unusually shortened arms, short
incurved fifth fingers, light brown spots on the skin, webbing (syndactylism)
of toes and/or failure of testes to descend into the scrotum
(cryptorchidism).  The head of people with this disorder is usually of normal
size even though it appears to be large in comparison to the rest of the
body.

Causes

The cause of Russell-Silver Syndrome is unknown although some medical
researchers believe it may be inherited as either an X-linked or dominant
trait with incomplete penetrance.  Incomplete penetrance means the severity
of the disorder is determined by the degree to which the gene defect has
produced abnormalities.  Other possible causes may include fetal disturbance
at six to seven weeks gestation, or defects in the body's ability to
manufacture or utilize human growth hormone.

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.

X-linked recessive disorders are conditions which are coded on the X
chromosome.  Females have two X chromosomes, but males have one X chromosome
and one Y chromosome.  Therefore in females, disease traits on the X
chromosome can be masked by the normal gene on the other X chromosome.  Since
males have only one X chromosome, if they inherit a gene for a disease
present on the X, it will be expressed.  Men with X-linked disorders transmit
the gene to all their daughters, who are carriers, but never to their sons.
Women who are carriers of an X-linked disorder have a fifty percent risk of
transmitting the carrier condition to their daughters, and a fifty percent
risk of transmitting the disease to their sons.

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.)

Affected Population

Russell-Silver Syndrome begins during the gestation period and affects males
and females in equal numbers.  However, males are usually more severely
affected than females.

Related Disorders

There are many different growth disorders that can cause dwarfism.  Some of
these disorders involve hormone imbalances while others are characterized by
bone growth dysfunction.  Following is information on a small number of
growth disorders:

Achondroplasia is one of a group of growth disorders known as the
osteochondroplasias.  It is principally characterized by the failure of
normal endochondral bone formation; i.e., there is a disturbance in the
production and formation of the cartilage at the end of the long bones which
inhibits the elongation of the bones.  While it may be one of the most common
forms of congenital bone disturbances present from birth, this disorder may
not become apparent until failure of normal skeletal growth becomes obvious
later in childhood.

Prader-Willi Syndrome is a complex, multi-system disorder diagnosed more
often in males.  Usually an affected infant will be born following a
prolonged gestation period.  The primary features of the disorder include
infantile muscle weakness (hypotonia), failure to thrive, hypogonadism, and
development of severe obesity with short stature and possible disturbances of
intellectual and behavioral functioning.

Cornelia de Lange Syndrome is a growth disorder characterized by low
birth weight, "normal" chromosome analysis, characteristic facial and
skeletal defects, and some degree of mental retardation ranging from mild to
profound.  While not considered "hereditary", it carries a familial
recurrence risk factor of 2-5%.

Turner Syndrome is a genetic disorder affecting females which is
characterized by lack of sexual development, small stature, possibly mental
retardation, a webbed neck, heart defects, and various other congenital
problems.  Individuals have an XO karyotype (i.e., they have neither the
second X chromosome that characterizes females nor the Y chromosome of
males), but they have a female appearance.

For more information on the above disorders, choose "Achondroplasia,"
"Prader-Willi," "Turner," and "Cornelia-de Lange" as your search terms in the
Rare Disease Database.

Therapies:  Standard

Human Growth Hormone (HGH) is used for treatment of Russell-Silver Syndrome
and other types of dwarfism.  Some gains in overall body growth may occur
with this therapy.  Other treatment is symptomatic and supportive.

Therapies:  Investigational

This disease entry is based upon medical information available through
February 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 Russell-Silver Syndrome, please contact:

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

     Association for Children with Russell-Silver Syndrome
     22 Hoyt Street
     Madison, NJ  07940
     [phone]

     The National Arthritis and Musculoskeletal and Skin Diseases Information
Clearinghouse
     Box AMS
     Bethesda, MD  20892
     [phone]

     The Magic Foundation
     1327 N. Harlem Ave.
     Oak Park, IL  60302
     [phone]

     Human Growth Foundation (HGF)
     7777 Leesburg Pike
     P.O. Box 3090
     Falls Church, VA  22043
     [phone]
     [phone]

     Parents of Dwarfed Children
     11524 Colt Terrace
     Silver Spring, MD  20902

     Little People of America
     P.O. Box 633
     San Bruno, CA  94066
     [phone]

     International Center for Skeletal Dysplasia
     St. Joseph Hospital
     7620 York Rd.
     Towson, MD  21204
     [phone]

     Short Stature Foundation
     17200 Jamboree Rd., Suite J
     Irvine, CA  92714-5828
     [phone]
     800-24 DWARF

     Association for Research into Restricted Growth
     2 Mount Court
     81 Central Hill
     London SE 19 1 BS
     England

For information on genetics 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

TREATMENT OF SILVER-RUSSELL TYPE DWARFISM WITH HUMAN GROWTH HORMONE:  EFFECTS
ON SERUM SOMATOMEDIN-C LEVELS AND ON LONGITUDINAL GROWTH STUDIED BY
KNEMONETRY:  C.J. Partsch, et. al.; Acta Endocrinol [Suppl] (Copenh) (1986,
issue 279).  Pp. 139-146.

REEVALUATION OF RUSSELL-SILVER SYNDROME:  R.A. Pagon, et. al.; J Pediatr
(Nov. 1985, issue 107(5)).  Pp. 733-737.

X-LINKED SHORT STATURE WITH SKIN PIGMENTATION:  EVIDENCE FOR HETEROGENEITY
OF THE RUSSELL-SILVER SYNDROME:  M.W. Partington; Clin Genet (Feb. 1986,
issue 29(2)).  Pp. 151-156.