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$Unique_ID{BRK03918}
$Pretitle{}
$Title{Larsen Syndrome}
$Subject{Larsen Syndrome Sinding-Larsen-Johansson Disease Desbuquois Syndrome
Arthrogryposis Multiplex Congenita Ehlers-Danlos Syndrome }
$Volume{}
$Log{}
Copyright (C) 1988, 1990, 1992 National Organization for Rare Disorders,
Inc.
497:
Larsen Syndrome
** IMPORTANT **
It is possible the main title of the article (Larsen 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
Sinding-Larsen-Johansson Disease
Desbuquois Syndrome
Information on the following diseases can be found in the Related
Disorders section of this report:
Arthrogryposis Multiplex Congenita
Ehlers-Danlos 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.
Larsen Syndrome is a multi-system genetic disorder that is present at
birth. It is characterized by multiple bone dislocations and abnormalities,
an extremely high arch of the foot, non-tapering cylindrically shaped
fingers, and an unusual facial appearance. In some cases, short stature,
heart problems, cleft palate or lips, deafness, or mental retardation may
also occur.
Symptoms
Larsen Syndrome is present at birth and is characterized by a prominent
forehead, an upturned nose with a depressed bridge, and slightly protruding
wide-spaced eyes. Multiple bone dislocations can occur in the joints of the
knees, elbows and hips. The fingers are usually non-tapering and
cylindrically shaped. Feet are often clubbed with extremely high arches (pes
cavus). Abnormalities of the spine may be present. In males, the testes may
be undescended (cryptorchidism).
Some patients may have webbed fingers (syndactyly), low-set ears, short
stature, accumulation of fluid in the skull (hydrocephalus), a cleft or high
arched palate or harelip, fingernail or toenail abnormalities, mild curvature
of the spine (scoliosis), or softening of the bones (osteoporosis). Heart or
respiratory difficulties may also be present at birth.
Causes
Larsen Syndrome can be inherited as either an autosomal dominant or recessive
trait. Symptoms are thought to be caused by a generalized embryonic
connective tissue (mesenchymal) disorder during gestation.
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 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.)
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.)
Affected Population
Larsen Syndrome is a very rare disorder which affects males and females in
equal numbers. Approximately eighty cases had been identified in the medical
literature of the United States as of June, 1983.
Related Disorders
Symptoms of the following disorders can be similar to those of Larsen
Syndrome. Comparisons may be useful for a differential diagnosis:
Arthrogryposis Multiplex Congenita is a congenital disorder characterized
by reduced mobility of multiple joints at birth due to proliferation of
fibrous tissue (fibrous ankylosis). The range of motion of the joints of all
limbs is limited or fixed. The shoulders are bent inward and internally
rotated, the elbows are extended, and the wrists and fingers are bent. The
hips may be dislocated and are usually slightly bent, the knees are extended,
and the heel is bent inward from the midline of the leg while the foot is
bent inward at the ankle. (For more information on this disorder, choose
"Arthrogryposis" as your search term in the Rare Disease Database.)
Ehlers-Danlos Syndrome is an inherited connective tissue disorder. It is
characterized by the ability of patients to flex their bodies beyond the
normal range (articular hypermobility), to abnormally stretch their skin
(hyperelasticity of the skin), and widespread tissue fragility; i.e. skin,
blood vessels and other tissues can rupture from even minor injuries. (For
more information on this disorder, choose "Ehlers-Danlos" as your search term
in the Rare Disease Database).
Therapies: Standard
Treatment of infants with Larsen Syndrome consists of joint manipulation
and corrective casts or traction. Later, orthopedic surgery may be
recommended to correct skeletal dislocations or deformities. Reconstructive
surgery is an appropriate treatment for heart valve and spinal abnormalities,
and for cleft palate or harelip. Speech therapy may also be beneficial.
Services which benefit physically handicapped or mentally retarded
individuals and their families may also be of value. Genetic counseling may
be of benefit for patients and their families. Other treatment is
symptomatic and supportive.
Therapies: Investigational
This disorder is namemd after Dr. Loren Larsen who first described the
syndrome in the medical literature. Dr. Larsen is presently conducting
genetic studies on families with Larsen Syndrome. Families who wish to
participate in these studies are urged to contact:
Loren J. Larsen, M.D.
437 Twin Lake Circle
Santa Rosa, CA 95409
(707) 539-1438
This disease entry is based upon medical information available through
November 1992. 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 Larsen Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Child Health and Human Development (NICHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
The National Arthritis and Musculoskeletal and Skin Diseases Information
Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. Pp. 451, 1079.
THE LARSEN SYNDROME, AUTOSOMAL DOMINANT FORM: G.I. Sugarman; Birth
Defects (1975, issue 11(2)). Pp. 121-129.
SPINAL DEFORMITIES IN LARSEN'S SYNDROME: J.R. Bowen, et al.; Clin Orthop
(July-August 1985, issue 197). Pp. 159-163.
SEVERE CARDIAC ANOMALIES IN SIBS WITH LARSEN SYNDROME: P. Strisciuglio,
et al.; J Med Genet (December 1983, issue 20 6)). Pp. 422-424.
CARDIOVASCULAR MANIFESTATIONS IN THE LARSEN SYNDROME: E.A. Kiel, et al.;
Pediatrics (June 1983, issue 20 (6)). Pp. 422-424.
SINDING-LARSEN-JOHANSSON DISEASE. IT'S ETIOLOGY AND NATURAL HISTORY:
R.C. Medlar, et al.; J Bone Joint Surg [AM] (December 1978, issue 60 (8)).
Pp. 1113-1116.