$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.