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$Unique_ID{BRK03689}
$Pretitle{}
$Title{Dystrophy, Asphyxiating Thoracic}
$Subject{Dystrophy, Asphyxiating Thoracic ATD Jeune Syndrome
Thoracic-Pelvic-Phalangeal Dystrophy Asphyxiating Thoracic Dysplasia
Chondroectodermal Dysplasia Metrophic Dwarfism}
$Volume{}
$Log{}
Copyright (C) 1988, 1989, 1992 National Organization for Rare Disorders,
Inc.
576:
Dystrophy, Asphyxiating Thoracic
** IMPORTANT **
It is possible that the main title of the article (Asphyxiating Thoracic
Dystrophy). Please check the SYNONYM listing to find the alternate names and
disorder subdivisions covered by this article.
Synonyms
ATD
Jeune Syndrome
Thoracic-Pelvic-Phalangeal Dystrophy
Asphyxiating Thoracic Dysplasia
Information on the following diseases can be found in the Related
Disorders section of this report:
Chondroectodermal Dysplasia
Metrophic Dwarfism
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.
Asphyxiating Thoracic Dystrophy is a very rare genetic disorder affecting
the development of the bone structure of the chest area. Major symptoms
include failure of the rib cage to develop correctly, kidney problems and
shortened bones of the arms and legs.
Symptoms
Asphyxiating Thoracic Dystrophy (ATD) is characterized by insufficient growth
of the rib cage (thorax) in newborns. The characteristic "bell-shaped" chest
cavity results in the inability of the infant to breathe properly. Lung
infections, high blood pressure, pancreatic cysts and the growth of too many
fingers and toes (polydactyly) may also occur. ATD patients may also have
insufficient growth of the pelvic bones and shortened long bones of the arms
and legs. Breathing and kidney problems are the most serious complications
of ATD.
Causes
Asphyxiating Thoracic Dystrophy is caused by hardening of the endochondral
bone in the fetal rib cage (thorax). It is inherited as an autosomal
recessive 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 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
Asphyxiating Thoracic Dystrophy affects about one in one hundred and twenty
thousand live births. Males and females are affected in equal numbers.
Related Disorders
Symptoms of the following disorders can be similar to those of Asphyxiating
Thoracic Dystrophy. Comparisons may be useful for a differential diagnosis:
Chondroectodermal Dysplasia features dwarfism with striking shortening of
the extremities. Extra fingers and toes, fused wrists, dystrophy of the
fingernails, lip abnormalities and heart defects also occur in this disorder.
Metatrophic Dwarfism is noticed in infancy, and is characterized by the
development of a long narrow thorax, flattening of the vertebral bones and
relatively short limbs. Progressive deformity of the bones of the thorax and
spine causes a loss of previous development of normal body proportions. This
results in short-spine dwarfism with severe dysplasia of the skeleton.
Therapies: Standard
Treatment of Asphyxiating Thoracic Dystrophy may consist of surgical
expansion of the chest area by removal of cartilage in the sternum or by
using an acrylic implanted device to expand the rib cage to enhance breathing
capabilities. Kidney problems can be treated with dialysis or kidney
transplants. A diagnosis of ATD may be made prenatally by the use of
ultrasound imaging. Genetic counseling may be of benefit to families
affected by this disorder. Other treatment is symptomatic and supportive.
Therapies: Investigational
The Titanium Rib Project is underway to implant expandable ribs in patients
with disorders involving missing, underdeveloped, or otherwise malformed rib
cages, ribs or chest walls. Absent areas due to surgery or birth defects,
fused ribs or hypoplastic chests may be improved using the titanium ribs
which can be expanded as the child grows. Interested persons may contact:
Dr. Robert Campbell
Santa Rosa Children's Hospital
519 W. Houston St.
San Antonio, TX 78207-3198
(512) 567-5125
This disease entry is based upon medical information available through
September 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 Asphyxiating Thoracic Dystrophy, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Jeune Syndrome Support Group
5636 Secor Rd., #11
Toledo, OH 43627
(419) 475-9632
The National Arthritis and Musculoskeletal and Skin Diseases Information
Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
International Center for Skeletal Dysplasia
St. Joseph Hospital
7620 York Road
Towson, MD 21204
(301) 337-1250
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
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
This Rare Disease Database entry is based upon outlines prepared by medical
and dental students (1984-1986) at the Medical College of Virginia for their
course in human genetics, and the following articles:
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. Pp. 844, 951, 1108,
A THORACIC EXPANSION TECHNIQUE FOR JEUNE'S ASPHYXIATING THORACIC
DYSTROPHY, D.W. Todd, et al., J Pediatr Surg (February, 1986, issue 21 (2)).
Pp. 161-163.
THE JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY) IN AN ADULT. J. M.
Friedman, et al., Am J Med (December, 1975, issue 59 (6)). Pp. 857-862.
ASPHYXIATING THORACIC DYSPLASIA. CLINICAL, RADIOLOGICAL, AND PATHOLOGICAL
INFORMATION ON TEN PATIENTS. R. Oberklaid, et al., Arch Dis Child (October,
1977, issue 52 (10)). Pp. 758-765.