$Unique_ID{BRK03968} $Pretitle{} $Title{Marden-Walker Syndrome} $Subject{Marden-Walker Syndrome Connective Tissue Disorder Marden-Walker Type MWS Arthrogryposis Multiplex Congenita Cerebro-Oculo-Facio-Skeletal Syndrome Schwartz-Jampel Syndrome } $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 895: Marden-Walker Syndrome ** IMPORTANT ** It is possible that the main title of the article (Marden-Walker Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Connective Tissue Disorder, Marden-Walker Type MWS Information on the following diseases can be found in the Related Disorders section of this report: Arthrogryposis Multiplex Congenita Cerebro-Oculo-Facio-Skeletal Syndrome Schwartz-Jampel Syndrome 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. Marden-Walker Syndrome is a rare connective tissue disorder that is inherited as an autosomal recessive trait. Patients with this disorder typically have a distinct face, a cleft or high-arched palate, bone joints in a fixed position, growth delay and limited control of muscle movement. Marden-Walker Syndrome affects males more often than females. Symptoms Patients with Marden-Walker Syndrome have distinct facial features including an abnormality of the jaw, droopy eyelids, a flat bridge of the nose, low-set ears, and a fixed facial position. Other characteristics of this disorder are curvature of the spine causing a hunchback, bent joints that will not move (joint contractures), a cleft or high-arched palate, growth delay, and slow muscle movement. Other symptoms of Marden-Walker Syndrome may include a small head circumference, heart abnormalities, an irregular sexual and urinary system, a decrease in bone mass, a breastbone that pushes out or sinks in, a small projecting piece of tissue on the front of the outer ear (preauricular tag), abnormally small eyes, a short neck, a small mouth and/or a low hairline. A condition in which extra tissue causes obstruction of the small intestine (duodenal bands); narrowing of the ring that separates the stomach from the first part of the small intestine causing a blockage in the flow of partly digested food (pyloric stenosis); and/or loss of appetite, failure of the body to absorb nutrients adequately, stomach pain and weight loss caused by a condition in which there are not enough pancreatic hormones or enzymes (pancreatic insufficiency) have all been associated with Marden-Walker Syndrome. Causes Marden-Walker Syndrome is inherited through an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, 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 for the same trait 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 not show 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 Marden-Walker Syndrome is a very rare disorder that affects males more often than females with a ratio of 11 to 3. There have been approximately twenty cases reported in the medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Marden-Walker Syndrome. Comparisons may be useful for a differential diagnosis: Arthrogryposis Multiplex Congenita is a rare congenital disease characterized by reduced mobility of multiple joints at birth due to proliferation of fibrous tissue. Typically the range of motion of the joints of all limbs is limited. (For more information on this disorder choose "Arthrogryposis Multiplex Congenita" as your search term in the Rare Disease Database). Cerebro-Oculo-Facio-Skeletal Syndrome is a genetic degenerative disorder of the brain and spinal chord that is present at birth. The disorder is characterized by an extremely small head, abnormally small eyes, clouding of the eye's lens (cataract), a horizontally narrow opening between the eyelids, abnormally large ears, a small jaw, fixed bending of the elbows and knees, and/or a hunched back. Cerebro-Oculo-Facio-Skeletal Syndrome is inherited as an autosomal recessive trait. (For more information on this disorder, choose "Cerebro-Oculo-Facio-Skeletal Syndrome" as your search term in the Rare Disease Database). Schwartz-Jampel Syndrome is a rare disorder inherited through an autosomal recessive trait. People with this disorder have muscles that do not relax after contracting (myotonia). The main characteristics of Schwartz-Jampel Syndrome are abnormal bone formation and abnormalities of the face and eyes. Other abnormalities that may be found in some patients with this disorder are short stature, low birth weight, a short neck, a pigeon breast, curvature of the spine causing a hunchback and/or a condition in which the joints are bent and will not move (joint contractures). Therapies: Standard Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through February 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 Marden-Walker Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203)-746-6518 Coalition of Heritable Disorders of Connective Tissue c/o National Marfan Foundation 382 Main Street Port Washington, NY 11050 (516) 944-5412 American Cleft Palate Cranial Facial Association 1218 Granview Ave. Pittsburgh, PA 15211 (412) 681-1376 (800) 24CLEFT Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE FACES National Association For The Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4464 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, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1309. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1103-1104. CONGENITAL MYOPATHY WITH OCULO-FACIAL ABNORMALITIES (MARDEN-WALKER SYNDROME): N. Linder, et al.; Am J Med Genet (June, 1991, issue 39(4)). Pp. 377-9. EXPANDED SPECTRUM OF FINDINGS IN MARDEN-WALKER SYNDROME: G.P. Pineda, et al.; Am J Med Genet (August, 1990, issue 36(4)). Pp. 495-9. A 26-MONTH-OLD CHILD WITH MARDEN-WALKER SYNDROME AND PYLORIC STENOSIS: D. Gossage, et al.; Am J Med Genet (April, 1987, issue 26(4)). Pp. 915-9.