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$Unique_ID{BRK03664}
$Pretitle{}
$Title{Diastrophic Dysplasia}
$Subject{Diastrophic Dysplasia Cherub Dwarf Chondrodystrophy with Clubfeet
Diastrophic Dwarfism Arthrogryposis Multiplex Congenita Achondroplasia}
$Volume{}
$Log{}
Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc.
482:
Diastrophic Dysplasia
** IMPORTANT **
It is possible the main title of the article (Diastrophic Dysplasia) 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
Cherub Dwarf
Chondrodystrophy with Clubfeet
Diastrophic Dwarfism
Information on the following disorders can be found in the Related
Disorders section of this report:
Achondroplasia
Arthrogryposis Multiplex Congenita
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.
Diastrophic Dysplasia is a hereditary growth disorder characterized by
abnormally curved bones, short limbs, joint and hand deformities, and
clubfeet.
Symptoms
Symptoms of Diastrophic Dysplasia are present at birth. Short stature,
progressive curvature of the spine (scoliosis) often associated with a
hunchback (kyphosis), are major features of this disorder. An open spine in
the neck area (cervical spina bifida) occurs in most patients with
Diastrophic Dysplasia. The pelvic bones as well as the head of the thigh
bone, and the tailbone, may also be deformed. Shortened fingers are present,
the small bones in the hand tend to grow together (synostosis of proximal
interphalangeal joints), and the thumb is extended in a so-called "hitchhiker
position". When the hip or knee joint bear weight, they tend to dislocate.
Severe clubfeet on both sides of the body may also occur.
Cyst-like swellings on the outer ear during early infancy may later
develop into cauliflower-like shapes with or without the cartilage turning
into bony tissue (ossification). More than 25% of patients with Diastrophic
Dysplasia have a cleft palate. Occasionally a broad nasal bridge, a beak-
shaped nose, and a benign tumor made up of blood vessels (hemangioma) on the
face may also occur. Intelligence is usually normal.
Causes
Diastrophic Dysplasia is a hereditary disorder transmitted by autosomal
recessive genes. (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 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
Diastrophic Dysplasia is a rare disorder that is present at birth. It
affects males and females in equal numbers.
Related Disorders
Achondroplasia is a skeletal defect which belongs to the group of congenital
abnormalities known as "chondrodystrophies". These disorders affect the
manner in which cartilage is converted to bone. Skeletal malformation and
dwarfism result from growth abnormalities in the bone or cartilage. Symptoms
of Achondroplasia begin before birth. Life expectancy for children with
Achondroplasia is usually normal. (For more information on this disorder,
choose "Achondroplasia" as your search term in the Rare Disease Database.)
Arthrogryposis Multiplex Congenita is characterized by reduced mobility
of multiple joints at birth due to proliferation of fibrous tissue (fibrous
ankylosis). (For more information on this disorder, "Arthrogryposis" as your
search term in the Rare Disease Database.)
Therapies: Standard
Treatment of Diastrophic Dysplasia consists of orthopedic management using
surgery, braces, casts, and/or manipulations. Appropriate dental treatment
and surgical closure of the cleft palate are utilized when necessary.
Corticosteroids are injected into the ear to treat the deformity of the
cartilage of the affected infant.
Genetic counseling is recommended to families of children with
Diastrophic Dystrophy.
Therapies: Investigational
This disease entry is based upon medical information available through
December 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 Diastrophic Dysplasia, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The National Arthritis and Musculoskeletal and Skin Diseases Information
Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
Little People of America
Box AMS
San Bruno, CA 94066
(415) 589-0695
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
Short Stature Foundation
17200 Jamboree Rd., Suite J
Irvine, CA 92714-5828
(714) 474-4554
800-24 DWARF
Association for Research into Restricted Growth
2 Mount Court
81 Central Hill
London SE 19 1 BS
England
01-678-2984
International Center for Skeletal Dysplasia
St. Joseph Hospital
7620 York Road
Towson, MD 21204
(301) 337-1250
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. P. 932.
DISORDERS OF THE SPINE IN DIASTROPHIC DWARFISM: D. Bethem, et al.;
Journal Bone Joint Surg (Am) (1980: issue 62(4)). Pp. 529-536.