Coalition for Heritable Disorders of Connective Tissue



	More than one half million Americans are estimated to be affected by one of the 200 known conditions categorized as heritable disorders of connective tissue. Although each disorder, such as those described in this brochure, has a common denominator - connective tissue disorder - most of them as yet have no known cause or effective treatments. The following conditions are represented by the member agencies of the Coalition for Heritable Disorders of Connective tissue: Chondrodysplasias – (Little People of America, Washington, DC) – Growth abnormalities in bone or cartilage leading to skeletal maldevelopment. After years, the gene has been identified for Achondroplasia – one of the most common forms of short stature. This condition, caused by a gene mutation early in fetal development, occurs in one of every 20,000 births. Following upon this discovery was the identification of the gene mutation for diastrophic dwarfism, a recessive form. Additional positive research is being directed toward the goal of alleviating orthopedic, neurological and respiratory/pulmonary conditions which can be lethal and have only partially effective surgical interventions. Ectodermal Dysplasias – (National Foundation for Ectodermal Dysplasias, Mascoutah, IL) – 150 related genetic disorders identified by abnormalities in the ectodermal tissue, such as multiple missing teeth, sparse hair, inability to perspire, malformed nails, cleft lip/palate, malfunctioning mucus membranes, hearing and/or sight deficit, short stature, absent digits and suppressed immune system. The most common form of this disorder group – hypohidrotic ectodermal dysplasia – occurs in 1 to 7 out of 10,000 births. Ehlers-Danlos Syndrome (EDS) – (Ehlers-Danlos National Foundation, Los Angeles, CA) – Individuals with EDS have a defect in their connective tissue, which affects the skin, muscles, ligaments and organs. Symptoms include skin and tissue fragility, easy bruising, joint dislocations and subluxations, bleeding problems and in some cases, organ and vascular ruptures. There are six major types of EDS with each type being a distinct disorder that “runs true” in a family. Diagnosis is usually made by history and physical exam with clinical testing available for several of the types. • Epidermolysis Bullosa (EB) – [Dystrophic Epidermolysis Bullosa Research Association of America (DebRA), New York, NY] – Even minor friction to skin or mucous membranes forms blisters. This condition can be either mild (EB Simplex) or severe, as in the sometimes fatal, dystrophic EB where patients resemble burn victims as blisters form over the entire skin surface and digestive tract. Over 50,000 Americans, mostly children, are affected with some form of this disease. Epidermolysis Bullosa (EB) – [Dystrophic Epidermolysis Bullosa Research Association of America (DebRA), New York, NY] – Even minor friction to skin or mucous membranes forms blisters. This condition can be either mild (EB Simplex) or severe, as in the sometimes fatal, dystrophic EB where patients resemble burn victims as blisters form over the entire skin surface and digestive tract. Over 50,000 Americans, mostly children, are affected with some form of this disease. Fibrodysplasia Ossificans Progressiva (FOP) – (International Fibrodysplasia Ossificans Progressiva Association, Inc., Winter Springs, FL) – A rare disorder that causes bone to form in muscles, tendons, ligaments, and other connective tissues. Bridges of extra bone form across the joints in characteristic patterns, progressively restricting movement. FOP is a disease in which the body produces not only too much bone, but an extra skeleton that immobilizes the joints of the body. Marfan Syndrome (MFS) – (National Marfan Foundation, Port Wshington, NY) – Characterized by tall stature, long legs and arms, dislocated ocular lenses, spinal curvature, and weakened aorta and heart valves, this condition affects over 100,000 Americans who must cope with a range of chronic medical problems. Besides skeletal deformity and dislocations, myopia, mitral valve prolapse and heart palpitations, lung collapse and spinal cord membrane cysts, many living with the Marfan syndrome have died in their 30s and 40s from fatal aortic ruptures misdiagnosed as heart attacks or indigestion. Menke’s Disease – (Corporation for Menke’s Disease, Ft. Wayne, IN) – A rare X-linked genetic disease, affecting in all but the rarest of cases only males, and is transmitted by females. It is caused by a defect in intestinal copper absorption. The disorder results in abnormally low levels of copper and ceruloplasmin, which is responsible for the transport of copper throughout the body. Menke’s Disease is usually recognized clinically by the onset of seizures and hypotonia at the age of 3 -5 months. There have been no long-term survivors of Menke’s Disease. Mitral Valve Prolapse (MVP) – (Society for Mitral Valve Prolapse Syndrome, Itasca, IL) – Considered the most common cardiac finding, it is thought to affect from 5 to 20% of the general population. The condition is marked by a “billowing” of portions of the valve during contraction. Symptons of MVP syndrome include palpitations, anxiety, panic attacks, chest pain, fatigue, headaches, insomnia, and GI problems. MVP patients also appear to have more incidences of scoliosis, TMJ, Fibromyalgia and Endometriosis. Osteogenesis Imperfecta (OI) – (Osteogenesis Imperfecta Foundation, Gaithersburg, MD; Children’s Brittle Bone Foundation, Highland Park, IL) – OI is a genetic disorder of connective tissue characterized by bones that break easily--often from little or no apparent cause. There are at least four distinct forms of OI, representing extreme variations in severity and affecting 30,000 people in the U.S. Clinical features vary widely not only between types, but within types, and even within the same family. The most serious form of OI is frequently lethal to newborns. Many children show evidence of in-utero fractures. Progeria Syndrome – (Progeria Research Foundation, Inc., Peabody, MA) – An extremely rare condition characterized by premature and rapid aging in children. Since first described in 1886 there have been more than 100 cases identified throughout the world. Characteristics include dwarfism, baldness, delayed tooth formation, cardiovascular problems and aged-looking skin. The exact cause is unknown, but it is believed due to a single abnormal (mutant) gene. Pseudoxanthoma Elasticum (PXE) – (National Association for Pseudoxanthoma Elasticum, Denver, CO, and PXE International, Inc., Washington, DC) – Recently the identification of the gene for pseudoxanthoma elasticum (PXE) has led to a swell of new information. The gene produces Multi-drug Resistance Protein 6 (ABCC6), thus causing a problem with the transport of molecules out of the cell. Several structural and behavioral abnormalities in the extracellular matrix result in a varied phenotype. Lax and redundant skin, mineralization of Bruch's membrane and midsize arteries can lead to central vision loss, cardiovascular and gastrointestinal problems. PXE may provide a model for the study of these more common problems. Stickler Syndrome – (Stickler Involved People, Augusta, KS) – Stickler syndrome is a genetic disorder which affects connective tissue including the joints, eyes, palate, heart and hearing. This disorder is characterized by possible vision problems, hearing loss, early arthritis, cleft palate and mitral valve prolapse. Complicated retinal detachments occur in up to 50% of affected eyes. Premature degenerative changes of the weight bearing joints is one of the most consistent features of Stickler syndrome. Williams Syndrome (WS) – (Williams Syndrome Association, Clawson, MI) – A rare genetic condition estimated to occur in 1/20,000 births which causes medical and developmental problems. It affects males and females equally and can occur in all ethnic groups throughout the world. The majority of individuals have some type of heart or blood vessel problem. Typically, there is a narrowing in the aorta, or narrowing in the pulmonary arteries. Since there is an increased risk for development of blood vessel narrowing or high blood pressure over time, periodic monitoring of cardiac status is necessary.			CHDCT Membership (Revised 8/04) Children's Brittle Bone Foundation 7701 95th Street Pleasant Prairie, WI 53158 Tel: 866-694-2223 Fax. 262-947-0724 E-mail: info@cbbf.org Web site:http://www.cbbf.org Corporation for Menkes Disease (CMD) 520 Buckfield Ct. Ft. Wayne, IN 46814 Tel: 219-436-0137 Fax: Same as Tel. E-mail: Web page: Dystrophic Epidermolysis Bullosa Research Asso. Of American (DebRA of America) 5 West 36th Street, Room 404 New York, NY 10018 Tel: 212-868-1573 E-mail: Staff@debra.org Web page: http://www.debra.org Ehlers Danlos National Foundation Ehlers Danlos National Foundation 3200 Wilshire Blvd Suite 1601, South Tower Los Angeles, CA 90010 Tel: 213-368-3800 Fax: 213-427-0057 E-mail: staff@ednf.org Web page: http://www.ednf.org Contact: Cynthia Lauren Executive Director clauren@ednf.org Int'l Fibrodysplasia Ossificans Progressiva Asso., Inc. (IFOPA) P.O. Box 196217 Winter Springs, 32719-6217 Tel: 407-365-4194 Fax: 407-365-3213 E-Mail: Web page: International Progeria Registry 1050 Forest Hill Road Staten Island, NY 10304 Tel: 718-494-5333 Fax: 718-494-4835 E-Mail: info@progeriaresearch.org Web page: Contact: Dr. Ted Brown E-mail: wtbibr@aol.com Little People of America (LPA) 5289 NE Elam Young Parkway, Suite F700 Hillsboro, OR 97124 Tel: 888-LPA-2001 Fax: E-mail: info@LPAonline.org Web site: http://www.lpaonline.org Contact: Maureen Mallok National Association for Pseudoxanthoma Elasticum (NAPE) 8764 Manchester Road, Suite 200 St. Louis, MO 63144-2724 Tel: 314-962-0100 E-mail: pxenape@napse.org Web page: http://www.pxenape.org National Foundation for Ectodermal Dysplasias(NFED) 410 East Main Street P.O. Box 114 Mascoutah, IL 62258-0114 Tel: 618-566-2020 Fax: 618-566-4718 E-mail: nfed1@aol.com Web page: http://www.nfed.org Contact: Melinda E-mail: malinda@nfed.org National Marfan Foundation 22 Manhasset Avenue Port Washington, NY 11050 516-883-8712 516-883-8040 http://www.marfan.org Contact: Josephine Grima Director of Research jgrima@marfan.org Osteogenesis Imperfecta Foundation (OIF) 804 West Diamond Avenue, Suite 210 Gaithersburg MD 20878 Tel: 301-947-0083 800-981-2663 Fax: 301-947-0456 E-mail: bonelink@oif.org Web page: http://www.oif.org Contact: Heller An Shapiro PXE International 4301 Conneticut Avenue NW #404 Washington DC 20003-2369 Tel: 202-362-9599 Fax: 202-966-8553 http://www.pxe.org Contact Person: Sharon Terry sterry@pxe.org Society for Mitral Valve Prolapse Syndrome (SMVP) P.O. Box 431 Itasca, IL 60143-0431 Tel: 630-250-9327 Fax: 630-773-0478 E-mail: bonnie0107@aol.com Web page: http://www.mitralvalveprolapse.com Contact: Bonnie Stickler Involved People(SIP) 15 Angelina Augusta , KS 67010 316-775-2993 www.sticklers.org Contact Person: Pat Houchin Coordinator sip@sticklers.org Williams Syndrome Association (WSA) P.O. Box 297 Clawson, MI 48017-0297 Tel: 248-244-2229 800-806-1871 Fax: 248-541-3631 E-mail: info@willimas-syndrome.org Web page: http://www.williams-syndrome.org

	Sharon Terry, MA, Co-President, Coalition For Heritable Disorders Of Connective Tissue 4301 Connecticut Avenue, NW, Suite 404, Washington DC 20008 Voice: 202-362-9599 Fax: 202-966-8553 E-mail: chdct@pxe.org Priscilla Ciccariello, Co-President Website: http://www.chdct.org Copyright 2003 © Coalition For Heritable Disorders Of Connective Tissue Revised June 16-2003