EDS Genetic Connection MISSION: To increase and bring greater awareness about Ehlers-Danlos Syndrome (EDS) a heritable disorder of connective tissues to the medical professions and in the public at large.To encourage teaching about these conditions in medical schools. To encourage the training health practitioners to identify, diagnose and treat this heritable connective tissue disorder. To foster future research. Discussion groups are intended to provide a meeting place for people with these conditions, so that they can exchange information and support, and hopefully better cope with their illnesses on a daily basis. EDS Genetic Connection will strive to provide up-to-date, accurate, and useful information to you. This web-site will contain several links to other sites on a variety of topics. These links are provided to aid in your personal research. Information on these pages should NEVER take the place of consulting with your doctor. EDS Genetic Connection is not responsible for the content of any of the links. Views expressed therein are those of the authors, and should not be construed to be those of EDS Genetic Connection, or any of its members.If there is a problem with any of the linked pages, please contact the page's administrator directly. It is our desire at EDS Genetic Connection that you will use this information to better understand Ehlers-Danlos Syndrome and it's effects on those who suffer from it daily. Views expressed by EDS Genetic Connection are based on personal experience, research and or my own personal genetic counselor. What is Ehlers-Danlos Syndrome? Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders, which cause articular (joint) hypermobility, shin extensibility and tissue fragility. There are six major types of EDS. The different types of EDS are classified according to their signs and symptoms. Each type of EDS is a distinct disorder that "runs true in a family". This means, for example, that an individual with Vascular Type EDS will not have a child with Classical Type EDS. Individuals with EDS have a defect in their connective tissue, which is a tissue that provides support to body parts such as skin, muscles and ligaments. Abnormal collagen, which is a protein that adds strength and elasticity to connective tissue, causes the unstable joints and fragile skin seen in individuals with EDS. It is estimated that about 1 in 5000 to 1 in 10,000 individuals are born with EDS. More Defined: Ehlers-Danlos Syndromes are inherited in the genes. As a rare connective tissue disorder characterized by defects of the major structural protein in the bodies collagen. Collagen is a tough fibrous protein that plays an essential role "holding together" strengthening and providing elasticity to bodily cells and tissues. The different categories are based on genetics into different types with many differences between patients in any given type. The diagnosis of EDS depends upon the clinical findings. Many people do not fit exactly into one of the specific types of EDS. Due to defects of collagen primary EDS symptoms and findings include: Though there are a variety of Ehlers-Danlos Syndromes all types share common features such as easy bruising (may be severe) clotting abnormalities, joints are abnormally flexible, loose/unstable joints (articular hypermobile) which are prone to frequent sudden dislocation and or sublexation resulting in pain and possible emergency. Hyperextensible joints (move beyond normal range) congenital hip dislocation, abnormalities of the ligaments. Sprains and strain occur frequently. Abnormal Loose Skin (laxity/Hyperextensible), weakness of tissues, severe scaring, slow/poor wound healing, delayed/poor tissue healing, development of molluscoid pseudo tumors, Flat footed, club feet (seen in vascular type. Musculoskelatal Pain (early onset debilitating) Poor muscle tone, ambulation is impaired- hand strength and upper extremities dysfunction, back and neck pain, spinal deformity scoliosis (more common in KyphoScolios Type) but not limited to such. Abnormalities to organs fragility to membranes--heart mitral valve regurgitation/prolapse, (arterial ruptures varies in types) Bowel/Intestinal Trouble, (Perforation/Ruptures varies in types) Constipation, Gastrointestinal function is poor, Retinal trouble, Uterine perforation varies in types. The 6 Major Types of EDS include; * Classical Type (Formally Types I & II) Marked Joint hypermobility, joint dislocation/sublexations, hip dislocation. Joint instability can lead to sprains and strains. Skin hyperextensibility (laxity), and fragility. The smooth velvety skin is fragile and tears or bruises easily. Wide atrophic scars, Cigarette paper scars, Scoliosis is common, poor eyesight (nearsightedness is common) In some cases, muscle hypotonia (floppiness) Classical type EDS is caused by abnormalities in collagen type V. This Classical type is inherited as an autosomal dominant genetic trait. * Hypermobile Type (Formally Type III) Joint Hypermobility is the major manifestation and the most debilitating. Any joint can be affected and dislocations are frequent. Chronic joint and limb pain. Hyperextensible skin, smooth velvety skin, Inherited as an autosomal dominant genetic trait. Research is still ongoing regarding the collagen abnormality, which causes Hypermobility type EDS. * Vascular Type (Formally Type IV the arterial form) Common features include thin, translucent skin, with a venous (vein) pattern seen through the skin, particularly over the chest and abdomen. Spontaneous rupture of arteries and bowel is a serious manifestation that can lead to death. Arterial/Intestinal/Uterine fragility or rupture, extensive bruising and other less common findings. (Life expectancy 48yrs) Clubfoot can be present at birth. Skin laxity variable. Vascular type EDS is caused by abnormalities in collagen type III. Inherited as an autosomal dominant and recessive genetic trait. (Can be detected through skin biopsy in most cases) * KyphoScolios Type (Formally Type VI ) Includes Fragile globe of the eyes, generalized/significant skin and joint laxity, severe muscle hypotonia (floppiness) at birth, progressive and severe curvature of the spine (scoliosis) usually at birth. And tissue fragility. Inherited as autosomal recessive. * Arthrochalasia Type (Formerly Type VIIB) Arthrochalasia multiplex congenital. Common features include hip dislocation at birth (which has been seen in almost all individuals with this type of EDS) Patients are short in height and severely affected by and severe joint hypermobility (laxity) and dislocations. Skin involvement is variable. The Arthrochalasia type is caused by abnormalities in collagen type I. Autosomal dominant and recessive inheritance is possible. A skin biopsy can be used to diagnose this disorder. * Dermatosparaxis Type Common features include skin fragility, soft doughy skin and sagging redundant skin. This results from defect in collagen type I. There are several other types of EDS, which are extremely rare. Each chromosome contains thousands of different individual genes, and each gene is a blueprint for some type of chemical that is needed for body growth or development. Since our chromosomes come in pairs, so do our genes. A person with EDS type II has a mutation, or error, in one copy of the gene responsible for EDS and one normal copy of that gene. When he or she has children, there is a 50/50 chance for passing that gene error on to each child. Studies are still ongoing regarding the exact genetic and collagen defect that causes this type of EDS. The University of Washington is currently involved in this research. They can perform collagen testing on cultured fibroblasts from a skin biopsy to attempt to identify a collagen abnormality. Certainly, in some cases, this abnormality cannot be identified within the limits of medical current knowledge. EDS Hypermobility Type is inherited through families in an autosomal dominant manner. "Autosomal" means that both males and females can have EDS. "Dominant" means that an error in one copy of the gene causes the disease. Our bodies are made up of millions of cells and inside each cell is a full set of chromosomes. Chromosomes are the packages for all of our genetic information. In each cell, there are 46 chromosomes arranged into 23 pairs. Once chromosome of each pair is inherited from the mother and the other from the father. Each chromosome contains thousands of different individual genes, and each gene is a blueprint for some type of chemical that is needed for body growth of development. Since our chromosomes come in pairs, so do our genes. It is possible to perform prenatal diagnosis through chorionic villus sampling (CVS) as early as 10 weeks in pregnancy. (CVS involves removing a small piece of the placenta and carries a risk of miscarriage of approximately one-half percent) Currently, there is nothing that can be done to cure or treat EDS if it is diagnosed prenatally. Speaking to a genetic counselor regarding recurrence risks and testing options if this is an area of concern. Recommendations: Contact and Competitive Sports should be avoided. Swimming and other aquatic activities are recommended for physical therapy. Use of analgesics when experiencing joint or bone pain. My name is Rabecca Primeau I suffer from Classical Type EDS, My daughter age 4 has been diagnosed as well; we are in the process of my son's diagnosis age 14. I went 30yrs of not knowing what was going on in my body. In 1998 my body started to suffer more in unexplainable pain. All the doctors were baffled and would state diagnosis unknown. It wasn't until my husband noticed my daughter at the age of 3 wasn't extending her knees when she walked and was dragging her feet. We took her to her Orhto Dr. who was already treating her from a congenital hip dysplaysia. After examining her he suspected Ehlers-Danlos Syndrome and referred us to Children's Hospital. August 22nd 2000 we went for our evaluation at Children's and it was confirmed that we both suffered from Ehlers-Danlos Syndrome (EDS) Classical Type. A skin biopsy was performed on me to rule out Vascular Type (VEDS) and sent to University of Washington. The biopsy results were unable to detect the biochemical marker found in most forms of VEDS. So our diagnosis of Classical Type remains until future biochemical testing is available. This is a place to welcome all those diagnosed with EDS, their families, friends and the medical community. It is important that we educated ourselves about this genetic disorder, the medical field is still new in their research but have come a long way in understanding EDS. The downside of it is that the medical doctors are not being educated enough about the symptoms, signs and effects of EDS patients, which has led to diagnostic errors and or simply undiagnosed. Since the diagnosis of Ehlers-Danlos Syndrome is based upon the clinical findings of the patient and the family history it is necessary they are educated and well informed about this rare inherited disorder. See My Upcoming Book: On Ehlers-Danlos syndrome (EDS) Please be sure to click on the link at the top of the page to read about the new book, and Vote on the title. |
EDS Genetic Connection MISSION: To increase and bring greater awareness about Ehlers-Danlos Syndrome (EDS) a heritable disorder of connective tissues to the medical professions and in the public at large.To encourage teaching about these conditions in medical schools. To encourage the training health practitioners to identify, diagnose and treat this heritable connective tissue disorder. To foster future research. Discussion groups are intended to provide a meeting place for people with these conditions, so that they can exchange information and support, and hopefully better cope with their illnesses on a daily basis. EDS Genetic Connection will strive to provide up-to-date, accurate, and useful information to you. This web-site will contain several links to other sites on a variety of topics. These links are provided to aid in your personal research. Information on these pages should NEVER take the place of consulting with your doctor. EDS Genetic Connection is not responsible for the content of any of the links. Views expressed therein are those of the authors, and should not be construed to be those of EDS Genetic Connection, or any of its members.If there is a problem with any of the linked pages, please contact the page's administrator directly. It is our desire at EDS Genetic Connection that you will use this information to better understand Ehlers-Danlos Syndrome and it's effects on those who suffer from it daily. Views expressed by EDS Genetic Connection are based on personal experience, research and or my own personal genetic counselor. What is Ehlers-Danlos Syndrome? Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders, which cause articular (joint) hypermobility, shin extensibility and tissue fragility. There are six major types of EDS. The different types of EDS are classified according to their signs and symptoms. Each type of EDS is a distinct disorder that "runs true in a family". This means, for example, that an individual with Vascular Type EDS will not have a child with Classical Type EDS. Individuals with EDS have a defect in their connective tissue, which is a tissue that provides support to body parts such as skin, muscles and ligaments. Abnormal collagen, which is a protein that adds strength and elasticity to connective tissue, causes the unstable joints and fragile skin seen in individuals with EDS. It is estimated that about 1 in 5000 to 1 in 10,000 individuals are born with EDS. More Defined: Ehlers-Danlos Syndromes are inherited in the genes. As a rare connective tissue disorder characterized by defects of the major structural protein in the bodies collagen. Collagen is a tough fibrous protein that plays an essential role "holding together" strengthening and providing elasticity to bodily cells and tissues. The different categories are based on genetics into different types with many differences between patients in any given type. The diagnosis of EDS depends upon the clinical findings. Many people do not fit exactly into one of the specific types of EDS. Due to defects of collagen primary EDS symptoms and findings include: Though there are a variety of Ehlers-Danlos Syndromes all types share common features such as easy bruising (may be severe) clotting abnormalities, joints are abnormally flexible, loose/unstable joints (articular hypermobile) which are prone to frequent sudden dislocation and or sublexation resulting in pain and possible emergency. Hyperextensible joints (move beyond normal range) congenital hip dislocation, abnormalities of the ligaments. Sprains and strain occur frequently. Abnormal Loose Skin (laxity/Hyperextensible), weakness of tissues, severe scaring, slow/poor wound healing, delayed/poor tissue healing, development of molluscoid pseudo tumors, Flat footed, club feet (seen in vascular type. Musculoskelatal Pain (early onset debilitating) Poor muscle tone, ambulation is impaired- hand strength and upper extremities dysfunction, back and neck pain, spinal deformity scoliosis (more common in KyphoScolios Type) but not limited to such. Abnormalities to organs fragility to membranes--heart mitral valve regurgitation/prolapse, (arterial ruptures varies in types) Bowel/Intestinal Trouble, (Perforation/Ruptures varies in types) Constipation, Gastrointestinal function is poor, Retinal trouble, Uterine perforation varies in types. The 6 Major Types of EDS include; * Classical Type (Formally Types I & II) Marked Joint hypermobility, joint dislocation/sublexations, hip dislocation. Joint instability can lead to sprains and strains. Skin hyperextensibility (laxity), and fragility. The smooth velvety skin is fragile and tears or bruises easily. Wide atrophic scars, Cigarette paper scars, Scoliosis is common, poor eyesight (nearsightedness is common) In some cases, muscle hypotonia (floppiness) Classical type EDS is caused by abnormalities in collagen type V. This Classical type is inherited as an autosomal dominant genetic trait. * Hypermobile Type (Formally Type III) Joint Hypermobility is the major manifestation and the most debilitating. Any joint can be affected and dislocations are frequent. Chronic joint and limb pain. Hyperextensible skin, smooth velvety skin, Inherited as an autosomal dominant genetic trait. Research is still ongoing regarding the collagen abnormality, which causes Hypermobility type EDS. * Vascular Type (Formally Type IV the arterial form) Common features include thin, translucent skin, with a venous (vein) pattern seen through the skin, particularly over the chest and abdomen. Spontaneous rupture of arteries and bowel is a serious manifestation that can lead to death. Arterial/Intestinal/Uterine fragility or rupture, extensive bruising and other less common findings. (Life expectancy 48yrs) Clubfoot can be present at birth. Skin laxity variable. Vascular type EDS is caused by abnormalities in collagen type III. Inherited as an autosomal dominant and recessive genetic trait. (Can be detected through skin biopsy in most cases) * KyphoScolios Type (Formally Type VI ) Includes Fragile globe of the eyes, generalized/significant skin and joint laxity, severe muscle hypotonia (floppiness) at birth, progressive and severe curvature of the spine (scoliosis) usually at birth. And tissue fragility. Inherited as autosomal recessive. * Arthrochalasia Type (Formerly Type VIIB) Arthrochalasia multiplex congenital. Common features include hip dislocation at birth (which has been seen in almost all individuals with this type of EDS) Patients are short in height and severely affected by and severe joint hypermobility (laxity) and dislocations. Skin involvement is variable. The Arthrochalasia type is caused by abnormalities in collagen type I. Autosomal dominant and recessive inheritance is possible. A skin biopsy can be used to diagnose this disorder. * Dermatosparaxis Type Common features include skin fragility, soft doughy skin and sagging redundant skin. This results from defect in collagen type I. There are several other types of EDS, which are extremely rare. Each chromosome contains thousands of different individual genes, and each gene is a blueprint for some type of chemical that is needed for body growth or development. Since our chromosomes come in pairs, so do our genes. A person with EDS type II has a mutation, or error, in one copy of the gene responsible for EDS and one normal copy of that gene. When he or she has children, there is a 50/50 chance for passing that gene error on to each child. Studies are still ongoing regarding the exact genetic and collagen defect that causes this type of EDS. The University of Washington is currently involved in this research. They can perform collagen testing on cultured fibroblasts from a skin biopsy to attempt to identify a collagen abnormality. Certainly, in some cases, this abnormality cannot be identified within the limits of medical current knowledge. EDS Hypermobility Type is inherited through families in an autosomal dominant manner. "Autosomal" means that both males and females can have EDS. "Dominant" means that an error in one copy of the gene causes the disease. Our bodies are made up of millions of cells and inside each cell is a full set of chromosomes. Chromosomes are the packages for all of our genetic information. In each cell, there are 46 chromosomes arranged into 23 pairs. Once chromosome of each pair is inherited from the mother and the other from the father. Each chromosome contains thousands of different individual genes, and each gene is a blueprint for some type of chemical that is needed for body growth of development. Since our chromosomes come in pairs, so do our genes. It is possible to perform prenatal diagnosis through chorionic villus sampling (CVS) as early as 10 weeks in pregnancy. (CVS involves removing a small piece of the placenta and carries a risk of miscarriage of approximately one-half percent) Currently, there is nothing that can be done to cure or treat EDS if it is diagnosed prenatally. Speaking to a genetic counselor regarding recurrence risks and testing options if this is an area of concern. Recommendations: Contact and Competitive Sports should be avoided. Swimming and other aquatic activities are recommended for physical therapy. Use of analgesics when experiencing joint or bone pain. My name is Rabecca Primeau I suffer from Classical Type EDS, My daughter age 4 has been diagnosed as well; we are in the process of my son's diagnosis age 14. I went 30yrs of not knowing what was going on in my body. In 1998 my body started to suffer more in unexplainable pain. All the doctors were baffled and would state diagnosis unknown. It wasn't until my husband noticed my daughter at the age of 3 wasn't extending her knees when she walked and was dragging her feet. We took her to her Orhto Dr. who was already treating her from a congenital hip dysplaysia. After examining her he suspected Ehlers-Danlos Syndrome and referred us to Children's Hospital. August 22nd 2000 we went for our evaluation at Children's and it was confirmed that we both suffered from Ehlers-Danlos Syndrome (EDS) Classical Type. A skin biopsy was performed on me to rule out Vascular Type (VEDS) and sent to University of Washington. The biopsy results were unable to detect the biochemical marker found in most forms of VEDS. So our diagnosis of Classical Type remains until future biochemical testing is available. This is a place to welcome all those diagnosed with EDS, their families, friends and the medical community. It is important that we educated ourselves about this genetic disorder, the medical field is still new in their research but have come a long way in understanding EDS. The downside of it is that the medical doctors are not being educated enough about the symptoms, signs and effects of EDS patients, which has led to diagnostic errors and or simply undiagnosed. Since the diagnosis of Ehlers-Danlos Syndrome is based upon the clinical findings of the patient and the family history it is necessary they are educated and well informed about this rare inherited disorder. See My Upcoming Book: On Ehlers-Danlos syndrome (EDS) Please be sure to click on the link at the top of the page to read about the new book, and Vote on the title. |
EDS Awarness |