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$Unique_ID{BRK04231}
$Pretitle{}
$Title{Spondyloepiphyseal Dysplasia Tarda}
$Subject{Spondyloepiphyseal Dysplasia Tarda X-linked Spondyloepiphyseal
Dysplasia SED Tarda }
$Volume{}
$Log{}
Copyright (C) 1986, 1987, 1990 National Organization for Rare Disorders, Inc.
294:
Spondyloepiphyseal Dysplasia Tarda
** IMPORTANT **
It is possible the main title of this article (Spondyloepiphyseal
Dysplasia Tarda) is not the name you expected. Please check the SYNONYMS
listing to find the alternate names and disorder subdivisions covered by this
article.
Synonyms
X-linked Spondyloepiphyseal Dysplasia
SED Tarda
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.
Spondyloepiphyseal Dysplasia Tarda is a hereditary disorder which most
often affects males. It is characterized by dwarfism and skeletal
abnormalities.
Symptoms
Symptoms of SED Tarda are usually not apparent until 5 to 10 years of age, at
which point spinal growth appears to stop. The shoulders assume a hunched
appearance, the neck appears to become shorter and the chest broadens.
During adolescence, the skeletal abnormalities may cause pain in the back,
hips, shoulders, knees and ankles. As adults, patients with the disorder
have a mild case of dwarfism, with a short trunk, large chest cage and
relatively normal limb length. Hands, head and feet appear to be normal
size, but height usually ranges from 4'4" to 5'2".
Causes
SED Tarda is believed to be caused by an X-linked recessive inheritance.
(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.)
Related Disorders
Morquio Disease, or Mucopolysaccharidosis IV is an autosomal recessive
inherited disorder detectable usually at 18 months of age. Its features
include retarded growth, clouding of the cornea, hearing loss, and flow of
blood back from the aorta into the left ventricle of the heart (aortic
regurgitation). This disorder affects males and females equally. (For more
information, choose "Morquio" as your search term in the Rare Disease
Database.)
Spondyloepiphyseal Dysplasia Congenita is a disorder with autosomal
dominant inheritance which can have considerable variability in the severity
of symptoms. It is characterized by flat facial features, myopia, retinal
detachment, cleft palate, clubfoot, short-trunk dwarfism, a waddling gait and
normally sized hands and feet. This disorder, which is often detectable at
birth, affects males and females equally. (For more information, choose
"SED" as your search term in the Rare Disease Database.)
Multiple Epiphyseal Dysplasia, like SED Congenita, is caused by an
autosomal dominant gene affecting males and females equally. The disorder is
detectable between two and five years of age with the appearance of a
waddling gait. Patients may experience pain as a result of osteoarthritic
changes in the joints. Body size tends to be almost normal, with the
exception of the hands and feet which are disproportionately small.
Therapies: Standard
Prevention of SED Tarda can be achieved through genetic counseling.
Treatment of the disorder is supportive and symptomatic. Physical therapy is
used to relieve joint stiffness and pain. Total hip replacement may
eventually be the treatment of choice for severely debilitating
osteoarthritis of the hips.
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 Spondyloepiphyseal Dysplasia Tarda, 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
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
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
Little People of America
P.O. Box 633
San Bruno, CA 94066
(415) 589-0695
Short Stature Foundation
17200 Jamboree Rd., Suite J
Irvine, CA 92714-5828
(714) 474-4554
800-24 DWARF
National Cleft Palate Association
1218 Grandview Ave.
Pittsburgh, PA 15211
1-800-24CLEFT
1-800-23CLEFT
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
BIRTH DEFECTS COMPENDIUM, 2nd ed: Daniel Bergsma, ed; March of Dimes, 1979.
Pp. 970-1.