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.

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.

MEMBERSHIP LIST - January, 2010

CHILDREN'S BRITTLE BONE FOUNDATION
Craig Glicken, President
7701 95th Street
Pleasant Prairie, WI 53158
Tel: 866-694-2223
Fax: 262-947-0724
E-mail: traknfield@aol.com
Web page: www.cbbf.org

CORPORATION FOR MENKES DISEASE (CMD) (Not listed in 2009)
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 AMERICA (DebRA)
Suzanne J. Cohen, Executive Director
5 West 36th Street, Room 404
New York, NY 10018
Tel: 212-868-1573
1-866-DEBRA76
Fax:
E-mail: scohen@debra.org
Web page: www.debra.org

EHLERS-DANLOS NATIONAL FOUNDATION (EDNF)
Cynthia Lauren, Executive Director
3200 Wilshire Blvd.
Suite 1601, South Tower
Los Angeles, CA 90010
Tel: 213-368-3800
Fax: 213-427-0057
E-mail: clauren@ednf.org
Web page:

INT'L FIBRODYSPLASIA OSSIFICANS PROGRESSIVA ASSO, INC. (IFOPA)
Jeannie Peeper, President & Founder
P.O. Box 196217
Winter Springs, FL 32719-6217
Tel: 407-365-4194
Fax: 407-365-3213
E-mail: jlpfop@aol.com
Web page: http://www.ifopa.org/

LITTLE PEOPLE OF AMERICA (LPA)
Lois Gerage-Lamb, President
5289 NE Elam Young Parkway
Suite F700
Hillsboro, OR 97124
Tel: 503-846-1562
Fax: 503-846-1590
E-mail: littlelogl@aol.com
Web page: www.lpaonline.org

LOEYS-DIETZ SYNDROME FOUNDATION (LDSF)
Beth Utz, President
4153 N US Highway 23
Fostoria, Ohio 44830
Tel: 410-955-3071
Fax:
E-mail: Beth Utz, Beth.utz@loeysdietz.org; Gretchen Oswald, MS, CGC, goswald1@hmi.edu
Web page: www.loeysdietz.org

NATIONAL ASSOCIATION FOR PSEUDOXANTHOMA ELASTICUM (NAPE)
Frances Benham, President
8760 Manchester Road
St. Louis, MO 63144-2724
Tel: 314-962-0100
Fax:
E-mail: napestlouis@sbcglobal.net
Web Page: www.pxenape.org

NATIONAL FOUNDATION FOR ECTODERMAL DYSPLASIAS (NFED)
Mary Kaye Richter, Founder and Executive Director
410 East Main Street
P.O. Box 114
Mascoutah, IL 62258-0114
Tel: 618-566-2020
Fax: 618-566-4718
E-mail: maryk@nfed.org
Web page: www.nfed.org

NATIONAL MARFAN FOUNDATION (NMF)
Carolyn Levering, President & CEO
22 Manhasset Avenue
Port Washington, NY 11050
Tel: 516-883-8712
Fax: 516-883-8040
E-mail: carolynl@marfan.org
Web page: www.marfan.org

OSTEOGENESIS IMPERFECTA FOUNDATION (OIF)
Tracy Smith Hart, Executive Director
804 West Diamond Ave., Suite 210
Gaithersburg, MD 20878
Tel: 301-947-0083
800-981-2663
Fax: 301-947-0456
E-mail: thart@oif.org
Web page: www.oif.org

PXE INTERNATIONAL, INC. (PXE)
Sharon Terry, President
4301 Connecticut Avenue NW, Suite 404
Washington, D.C. 20008-2369
Tel: 202-362-9599
Fax: 202-966-8553
E-mail: sterry@pxe.org
Web page: www.pxe.org

SOCIETY FOR MITRAL VALVE PROLAPSE SYNDROME (SMVP)
Bonnie Durante, President
P.O. Box 431
Itasca, IL 60143-0431
Tel: 630-250-9327
Fax: 630-773-0478
E-mail: bonnie0107@aol.combonnie0107@aol.com
Web page: www.mitralvalveprolapse.com

STICKLER INVOLVED PEOPLE (SIP)
Pat Houchin, Coordinator (mellylady@sbcglobal.net)
15 Angelina Drive
Augusta, KS 67010
Tel: 316-259-5194
Fax: 316-775-0555
E-mail: sip@sticklers.org
Web page: www.stickler.org

WILLIAMS SYNDROME ASSOCIATION (WSA)
Terry Monkaba, Executive Director
P.O. Box 297
Clawson, MI 48017-0297
Tel: 1-248-244-2229
1-800-806-1871
Fax: 248-244-2230
E-mail: tmonkaba@williams-syndrome.org
Web page: www.willliams-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
cilla71@aol.com

Website: http://www.chdct.org

Copyright 2010 © Coalition For Heritable Disorders Of Connective Tissue Revised March 2010