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Topic: Ehlers-Danlos syndrome

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Ehlers Danlos Syndrome Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. The syndrome was furthered clarified by Ehlers in 1901 and Danlos in 1908. Defects in the processing of procellagen to collagen are demonstrable in cultured fibroblasts from patients with the Ehlers-Danlos and osteogenesis imperfecta syndromes. hw.healthdialog.com /kbase/nord/nord240.htm   (4665 words)

MedlinePlus Medical Encyclopedia: Ehlers-Danlos syndrome Affected parents should be aware of the type of Ehlers-Danlos syndrome they have and its mode of inheritance. Genetic counseling is recommended for prospective parents with a family history of Ehlers-Danlos syndrome. Call for an appointment with your health care provider if you have a family history of Ehlers-Danlos syndrome and you are concerned about your risk or are planning to conceive a child. www.nlm.nih.gov /medlineplus/ency/article/001468.htm   (559 words)

Ehlers-Danlos syndrome - Genetics Home Reference Mutations in the ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, and TNXB genes cause Ehlers-Danlos syndrome. Ehlers-Danlos syndrome is a group of disorders that affect connective tissue, the tissue that supports skin, bones, tendons, ligaments, blood vessels, and other organs. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. ghr.nlm.nih.gov /condition=ehlersdanlossyndrome   (749 words)

eMedicine - Ehlers-Danlos Syndrome : Article by G Bradley Schaefer, MD The syndrome derives its name from reports by Edward Ehlers, a Danish dermatologist, in 1901 and by Henri-Alexandre Danlos, a French physician with expertise in chemistry of skin disorders, in 1908. Ehlers-Danlos syndrome type V (OMIM #305200, X-linked recessive): The phenotype is similar to, if not indistinguishable from, type 2; however, in familial cases, type V exhibits X-linked recessive inheritance. Ehlers-Danlos syndrome type II (OMIM #130010, autosomal dominant): The phenotype is similar to type 1, but the effects are milder. www.emedicine.com /ped/topic654.htm   (3152 words)

Ehlers-Danlos syndrome --  Encyclopædia Britannica Dislocation of the lenses may also be a feature of the Ehlers-Danlos syndrome, a condition marked by great elasticity of the skin and by double-jointedness. The defect is present in about 50 percent of the children who have Marfan's syndrome, also called arachnodactyly—“spider fingers”—because of the unusual length of the fingers and toes. First described in 1965 by Austrian physician Andrea Rett, the syndrome is often misdiagnosed as autism or cerebral palsy. www.britannica.com /eb/article-9000772?tocId=9000772   (812 words)

Medcyclopaedia - Ehlers danlos syndrome Numerous congenital anomalies are associated with the Ehlers Danlos syndrome, including arachnodactyly, triphalangeal thumbs, radioulnar synostoses, clubfoot, supernumerary teeth, delayed cranial ossification, micrognathia, elongation of the ulnar styloid process, a short fifth proximal phalanx and posterior radial head dislocations. (Edward Ehlers, 18631937, Danish dermatologist and Henri Alexandre Danlos, 18441912, French dermatologist), the general name for a group of 11 syndromes involving abnormalities of connective tissue characterized by hyperelasticity and fragility of the skin, hyperlaxity of the joints and a bleeding diathesis. Other abnormalities seen in Ehlers Danlos syndrome include spontaneous dislocations, ligamentous and capsular laxity resulting in kyphoscoliosis, pes planus deformity and inguinal and hiatal hernia. www.medcyclopaedia.com /library/topics/volume_iii_1/e/EHLERS_DANLOS_SYNDROME.aspx   (433 words)

Oral Manifestations of Ehlers-Danlos Syndrome The first description of the syndrome in the literature was of a young Spaniard who was able to stretch the skin overlying his right pectoral muscle over to the left angle of his mandible. In 1901, Ehlers described the condition as a hyperelasticity of the skin and a strong tendency to bruising. The purpose of this article is to review current knowledge about the syndrome, to present the case of a 12-year-old affected by hypermobility of the temporo-mandibular joint (TMJ) as well as vascular manifestations inherent to the syndrome, and the precautions to take when providing dental treatment for EDS patients. www.cda-adc.ca /jcda/vol-67/issue-6/330.html   (2375 words)

Ehlers Danlos Syndrome Ehlers- Danlos Syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility and tissue fragility... Ehlers-Danlos syndrome type IV is an autosomal dominant disorder characterized by the joint and dermal manifestations as in other forms of the syndrome but also by proneness to spontaneous rupture of bowel and large arteries... Ehlers-Danlos syndrome, vascular type (also known as EDS IV) is characterized by thin, translucent skin; easy bruising; characteristic facial appearance; and arterial, intestinal and/or uterine fragility... ibis-birthdefects.org /start/ehledanl.htm   (2719 words)

Ehlers-Danlos Syndrome aHealthyAdvantage The Ehlers-Danlos syndromes (EDS) refer to a group of inherited disorders that affect collagen structure and function. Ehlers and Dr. Danlos further characterized the disease in 1901 and 1908, respectively. Genetic abnormalities in the manufacturing of collagen within the body affect connective tissues, causing them to be abnormally weak. www.ahealthyadvantage.com /topic/topic100586746   (2946 words)

Ehlers-Danlos Syndrome - Arthritis and arthritic conditions, medications, and treatment on MedicineNet.com The Ehlers-Danlos syndromes are inherited in the genes that are passed from parents to offspring. Ehlers-Danlos syndromes is a group of disorders which share common features including easy bruising, joint hypermobility (loose joints), skin that stretches easily (skin hyperelasticity or laxity), and weakness of tissues. In 2001, researchers discovered a new form of Ehlers-Danlos syndrome that is caused by an inherited abnormality in a protein other than collagen that also normally plays a role in binding together the cells of our tissues (including the skin, tendons, muscle, and blood vessels). www.medicinenet.com /ehlers-danlos_syndrome/article.htm   (663 words)

Ehlers-Danlos syndrome, arthrochalasic type Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inherited disorders of connective tissue characterized by hyperextensible skin and joints and tissue friability. Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inherited disorders in connective tissues characterized by hyperextensible skin and joints and tissue friability. Ehlers-Danlos syndrome is a heterogenous group of inherited disorders that affect the connective tissue. www.orpha.net /static/GB/ehlersdanlos_syndrome.html   (936 words)

Ehlers-Danlos syndrome (www.whonamedit.com) Heterogeneity of the Ehlers-Danlos syndrome: Description of three clinical types and a hypothesis to explain the basic defect(s). At the presentation, Danlos disagreed with the original diagnosis and drew attention to extensibility and fragility of the patient's skin. The syndrome can also be diagnosed in the Spanish sailor George Albes who was infamous for being able to stretch the skin on his chest out to arm's length. www.whonamedit.com /synd.cfm/2017.html   (698 words)

Ehlers-Danlos Syndrome: Hear-it Ehlers-Danlos Syndrome is a rare syndrome that, among other things, can cause a defect in the sound conducting mechanism of the middle ear, and which may result in hearing loss. In addition, Ehlers-Danlos Syndrome may cause other symptoms such as skin or heart problems. Patients suffering from hearing loss caused by Ehlers-Danlos Syndrome may find that hearing aids are the most effective remedy. www.hear-it.org /page.dsp?page=1841   (191 words)

Open Directory - Health: Conditions and Diseases: Musculoskeletal Disorders: Connective Tissue: Ehlers-Danlos Syndrome The Swedish Ehlers-Danlos Syndrome National Association - The purpose of the association is to support members, to inform them and their families, physicians, dentists, other nursing staff and the general public about EDS concerning symptoms and consequences. Ehlers Danlos Foundation of New Zealand - Support for sufferers of the Ehlers-Danlos Syndrome and related Hypermobility Syndrome and provides some information for the medical profession and general public. Oral Manifestations of Ehlers-Danlos Syndrome - EDS causes many dental concerns that you, your dentist, and your medical team must be aware of. dmoz.org /Health/Conditions_and_Diseases/Musculoskeletal_Disorders/Connective_Tissue/Ehlers-Danlos_Syndrome   (832 words)

DermAtlas: Online Dermatology Image Library dermatology image,Ehlers-Danlos syndrome,Gorlin sign,scar,hyperextensibility Half of patients with Ehlers-Danlos Syndrome can touch the tip of the nose with their tongue (Gorlin’s sign), compared with 10% of persons without the disorder. This is the typical finding on electronmicroscopy of the collagen in patients with Ehlers-Danlos syndrome typr VII B. © 2001-05, DermAtlas His mother and grand father as well as several cousins were also "double jointed." Hyperextensibility syndrome may affect 3-5% of the normal population. dermatlas.med.jhmi.edu /derm/result.cfm?Diagnosis=-903490152   (377 words)

Ivanhoe's Medical Breakthroughs - Ehlers-Danlos Syndrome -- Full-Length Expert's Interview Douglas-Hand: Ehlers-Danlos syndrome (EDS) is a group of hereditary disorders that affect mainly the skin and joints, but other organs as well. Over the past five years, the Ehlers-Danlos National Foundation in conjunction with the International Ehlers-Danlos Syndrome Network has been working on educating both health care professionals and the general public on EDS. A syndrome by it’s very definition is a group of signs and symptoms that occur together and characterize a particular abnormality. www.ivanhoe.com /channels/p_channelstory.cfm?storyid=3058   (3294 words)

Ehlers-Danlos Syndrome Info Compiled By Darlene A. Clarke, R.N., M.S.N., Karen Skrocki Czerpak, R.N. & Linda Neumann-Potash, R.N., M.N. Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility. EDS, like Marfan's Syndrome and Benign Joint Hypermobility Syndrome, are considered subgroups of Hypermobility Syndrome in the UK. There is some transatlantic disagreement about this, and different part of the world will diagnose their patients differently. anaiis.tripod.com /hmedfm/ehlersdanlos.html   (905 words)

HON Mother & Child Glossary, Ehlers-Danlos Syndrome Ehlers–Danlos syndrome (EDS) is a diverse group of hereditary connective tissue disorders, characterised by articular (joint) hypermobility, skin extensibility and tissue fragility. There are six major, distinct types of EDS, each classified according to the signs and symptoms observed (for more details on the types of Ehlers–Danlos syndrome, go to the source for this information Typically only one type of EDS will run through a family. www.hon.ch /Dossier/MotherChild/child_musculoskeletal/muscoskel_ehlersdanlos.html   (540 words)

Ehler Danlos Syndrome MEDSTUDENTS-METABOLIC DISORDERS Ehler Danlos syndrome is one of the inheritable connective tissues disorders along with: Marfan syndrome, pseudoxantoma elasticum, osteogenese imperfecta, chondrodysplasias, epidermolysis bullosa and Alport syndrome. Major differential diagnosis is Marfan syndrome and some forms of osteogenese imperfecta. It comprises a group of ten different subtypes. www.medstudents.com.br /metdis/metdis7.htm   (339 words)

Marfan Syndrome / Ehlers Danlos Syndrome Clinic, Cincinnati Children's Hospital Medical Center The Marfan / Ehlers Danlos Syndrome Clinic at Cincinnati Children's Hospital Medical Center is a multidisciplinary clinic that specializes in the evaluation, diagnosis and management of infants, children and adults who are suspected as having Marfan Syndrome / Ehlers Danlos Syndrome connective tissue disorders. The Marfan / Ehlers Danlos Syndrome Clinic at Cincinnati Children's Hospital Medical Center treats the following conditions: The Marfan Syndrome / Ehlers Danlos Syndrome Clinic also conducts gene analyses. www.cincinnatichildrens.org /svc/alpha/h/heart/clinical/outpatient/marfan.htm   (262 words)

Medcyclopaedia - Ehlers danlos syndrome The severest lesions occur in Ehlers Danlos type IV with a high frequency of spontaneous rupture of large and medium size arteries especially the aortic arch branches and the abdominal aorta and its branches. Pregnancy is hazardous in women with this syndrome because of a high incidence of arterial rupture. MRI and contrast-enhanced MR angiography can be used for identification and monitoring of aortic and arterial abnormalities associated with these syndromes. www.medcyclopaedia.com /library/topics/volume_v_2/e/EHLERS_DANLOS_SYNDROME.aspx   (180 words)

EHLERS-DANLOS SYNDROME ASSOCIATED WITH OLLIER DISEASE:14(3) The association of Ehlers-Danlos syndrome (EDS), a hereditary disorder of connective tissue, and Ollier disease, a rare, nonhereditary form of bone dysplasia, in a five-year-old female, is described. Ainsworth SR, Aulicino PL. A survey of patients with Ehlers-Danlos syndrome. The manifestations of the syndrome vary depending on the metabolic defect and which of at least 11 known collagen types are affected. www.kfshrc.edu.sa /annals/143/cr93181.html   (706 words)

Ehlers-Danlos Syndrome: Are Genes the Only Cause? In researching Ehlers-Danlos syndrome and related disorders, I found that much of the hereditary connective tissue disorder research is based on the premise that the various disorders are each caused by single genes unrelated to each other and unrelated to environmental factors. After spending a lot of time researching Ehlers-Danlos syndrome, related disorders, and the field of genetics in general, I disagree with this premise. I started the research for this web site after I was diagnosed with Ehlers-Danlos syndrome, a genetic disorder with no known cure. www.ctds.info /ehlers_danlos_syndrome.html   (862 words)

Ehlers-Danlos Syndrome Ehlers-Danlos is a group of connective tissue disorders characterized by articular hypermobility (the ability to flex joints beyond the "normal" range), skin hyperelasticity (the ability to stretch the skin away from the body), and fragile skin and tissues (easy bruising and easily ruptured skin and blood vessels). This disorder is very similar to Marfan Syndrome, and may be introduced in conjunction with one another. As students study the layers of the skin (epidermis and dermis) and joints, some attention should be paid to the role of collagen. www.usoe.k12.ut.us /curr/science/core/bio/genetics/ehlers_danlos.htm   (201 words)

Ehlers-Danlos Syndrome / Family Village This is a semi-moderated group for people with EDS (Ehlers Danlos syndrome) and folks interested in learning more about it. This is a family and we discuss ehlers danlos syndrome here, and all things related to EDS. This organization seeks to provide emotional support and updated information to those affected by Ehlers-Danlos syndrome and to their family members. www.familyvillage.wisc.edu /lib_e-ds.htm   (305 words)

EHLERS-DANLOS SYNDROME : Contact a Family - for families with disabled children: information on rare syndromes and disorders The re-categorisation of the Ehlers-Danlos syndromes appeared in the Revised Nosology, Villefranche, 1997. Ehlers-Danlos syndrome consists of several types of genetic connective tissue disorders. The different types of the syndrome are not graded in order of severity of the condition but each is a distinct type. www.cafamily.org.uk /Direct/e21.html   (1074 words)

GeneReviews: Ehlers-Danlos Syndrome, Vascular Type Your browser does not support HTML frames so you must view Ehlers-Danlos Syndrome, Vascular Type in a slightly less readable form. GeneReviews are expert-authored, peer-reviewed, current disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. www.genetests.org /query?dz=eds4   (47 words)

Knee1.com - Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome (EDS) describes a group of approximately eleven hereditary disorders mainly affecting the connective tissues from various parts of the body, such as skin, muscles, tendons, blood vessels, and ligaments. If you are scheduled for any type of surgery, be sure to tell the surgeons if you have Ehlers-Danlos Syndrome. In EDS, collagen, a common protein found in many types of connective tissues, is defective, leading to abnormalities in various connective tissues and subsequently to a variety of signs and symptoms (see below). www.knee1.com /care/condition20.cfm/104   (709 words)

NEJM -- Ehlers-Danlos Syndrome Safdar, Z., O'Sullivan, M., Shapiro, J. Emergent Bullectomy for Acute Respiratory Failure in Ehlers-Danlos Syndrome. Oka, N., Aomi, S., Tomioka, H., Endo, M., Koyanagi, H. Surgical treatment of multiple aneurysms in a patient with Ehlers-Danlos syndrome. Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings. content.nejm.org /cgi/content/extract/342/10/730   (245 words)

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