$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.