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$Unique_ID{BRK03849}
$Pretitle{}
$Title{Hypochondroplasia}
$Subject{Hypochondroplasia Atypical Achondroplasia Achondroplasia Tarda
Achondroplasia Kozlowski's Spondylometaphyseal Dysplasia }
$Volume{}
$Log{}
Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc.
591:
Hypochondroplasia
** IMPORTANT **
It is possible that the main title of the article (Hypochondroplasia) is
not the name you expected. Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Atypical Achondroplasia
Achondroplasia Tarda
Information on the following diseases can be found in the Related
Disorders section of this report:
Achondroplasia
Kozlowski's Spondylometaphyseal Dysplasia
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.
Hypochondroplasia is an inherited skeletal disorder. Major symptoms
include dwarfism that does not become evident until mid-childhood. The
disorder is characterized by a normal sized head and small but normally
shaped hands and feet.
Symptoms
Hypochondroplasia can be distinguished from other forms of short limb
dwarfism by examination of the bone structure of the skull and long bones of
the arms and legs of affected children. The children appear normal at birth
but the limbs fail to develop properly. The body thickens and is shorter
than normal. The head is of normal size but the hands and feet are smaller
than normal. The arms and legs are shorter than normal and are not usually
bowed. There is limited flexibility in the elbows. Intelligence is usually
normal, although motor development may be slowed.
Causes
Hypochondroplasia is inherited as an autosomal dominant trait. (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 other
normal gene and resulting in appearance of the disease. The risk of
transmitting the disorder from affected parent to offspring is fifty percent
for each pregnancy regardless of the sex of the resulting child.) Symptoms
may develop due to failure of the limbs to grow normally.
Affected Population
Hypochondroplasia is a rare skeletal disorder that appears to affect females
more often than males.
Related Disorders
Symptoms of the following disorders can be similar to those of
Hypochondroplasia. Comparisons may be useful for a differential diagnosis:
Achondroplasia is a form of short limbed dwarfism that is apparent at
birth. It is characterized by bulging head, marked saddling of the nose and
a certain facial characteristics. The body is shorter than normal with
disproportioned arms and legs and thickened bones. Fingers that are very
short and pudgy with "trident hands" and similar deformities of the toes and
feet also occur. Other symptoms may include an abnormally curved back or
spine and other abnormalities of the bone or cartilage. In some cases there
are serious neurologic complications in early adulthood. (For more
information on this disorder, choose "Achondroplasia " as your search term in
the Rare Disease Database).
Kozlowski's Spondylometaphyseal Dysplasia is characterized by reduced
calcification of the bones, especially of the spine and pelvis. Onset is
usually during the first year of life and is evident by the age two. It is
an anterior deformity in the spine with limited growth and joint degeneration
producing a waddling gait, short neck and trunk, bowed legs, pain and limited
range of motion. This disorder affects both sexes equally.
Therapies: Standard
Treatment of Hypochondroplasia may consist of physical therapy or orthopedic
corrections. Caesarean section deliveries may be necessary for patients who
are pregnant. Genetic counseling may be of benefit for patients and their
families. Other treatment is symptomatic and supportive.
Therapies: Investigational
This disease entry is based upon medical information available through
November 1988. 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 Hypochondroplasia, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
International Center for Skeletal Dysplasia
St. Joseph Hospital
7620 York Road
Towson, MD 21204
(301) 337-1250
The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
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
Parents of Dwarfed Children
11524 Colt Terrace
Silver Spring, MD 20902
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
For Genetic Information and genetic counseling referrals:
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. 408.
HYPOCHONDROPLASIA, E.E. Specht, et al., Clin Orthop (July-August, 1975,
issue (110)). Pp. 249-255.
HYPOCHONDROPLASIA, D.E. Newman, et al., J Can Assoc Radiol (June, 1975,
issue 26 (2)). Pp. 95-103.
ACHONDROPLASIA AND HYPOCHONDROPLASIA. CLINICAL VARIATION AND SPINAL
STENOSIS, R. Wynne-Davies, et al., J Bone Joint Surg [Br.] (1981, issue 63B
(4)). 508-515.