Ehlers-Danlos Syndrome
Joint hypermobility and genetic collagen disorders: are they related? (1/257)
The HDCTs constitute a heterogeneous group of rare genetically determined diseases, the best known of which are Ehlers-Danlos and Marfan syndromes and osteogenesis imperfecta. Hypermobility is a feature common to them all, but it is also a feature that is highly prevalent in the population at large. Symptomatic hypermobile subjects (whose symptoms are attributable to their hypermobility) are said to be suffering from the benign joint hypermobility syndrome, which has many features that overlap with the HDCTs. It is not yet known whether there is a variety of hypermobility (symptomatic or otherwise) that is not part of a connective tissue disorder. (+info)Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. (2/257)
Ehlers-Danlos syndrome (EDS) type VIIC is a recessively inherited connective-tissue disorder, characterized by extreme skin fragility, characteristic facies, joint laxity, droopy skin, umbilical hernia, and blue sclera. Like the animal model dermatosparaxis, EDS type VIIC results from the absence of activity of procollagen I N-proteinase (pNPI), the enzyme that excises the N-propeptide of type I and type II procollagens. The pNPI enzyme is a metalloproteinase containing properdin repeats and a cysteine-rich domain with similarities to the disintegrin domain of reprolysins. We used bovine cDNA to isolate human pNPI. The human enzyme exists in two forms: a long version similar to the bovine enzyme and a short version that contains the Zn++-binding catalytic site but lacks the entire C-terminal domain in which the properdin repeats are located. We have identified the mutations that cause EDS type VIIC in the six known affected human individuals and also in one strain of dermatosparactic calf. Five of the individuals with EDS type VIIC were homozygous for a C-->T transition that results in a premature termination codon, Q225X. Four of these five patients were homozygous at three downstream polymorphic sites. The sixth patient was homozygous for a different transition that results in a premature termination codon, W795X. In the dermatosparactic calf, the mutation is a 17-bp deletion that changes the reading frame of the message. These data provide direct evidence that EDS type VIIC and dermatosparaxis result from mutations in the pNPI gene. (+info)Multiple aortocaval fistulas associated with a ruptured abdominal aneurysm in a patient with Ehlers-Danlos syndrome. (3/257)
Aortocaval fistula (ACF) is a rare complication of spontaneous abdominal aortic aneurysm (AAA) rupture, with an incidence of 2-4%. A unique case of ruptured AAA complicated by multiple aortovenous fistulas involving the inferior vena cava and left internal iliac vein is presented, and is the first published report of a patient with Ehlers-Danlos syndrome undergoing surgical treatment for an ACF. (+info)Ehlers-Danlos syndrome associated with multiple spinal meningeal cysts--case report. (4/257)
A 40-year-old female with Ehlers-Danlos syndrome was admitted because of a large pelvic mass. Radiological examination revealed multiple spinal meningeal cysts. The first operation through a laminectomy revealed that the cysts originated from dilated dural sleeves containing nerve roots. Packing of dilated sleeves was inadequate. Finally the cysts were oversewed through a laparotomy. The cysts were reduced, but the postoperative course was complicated by poor wound healing and diffuse muscle atrophy. Ehlers-Danlos syndrome associated with spinal cysts may be best treated by endoscopic surgery. (+info)Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. (5/257)
Progeroid type Ehlers-Danlos (E-D) syndrome was reported to be caused by defects in galactosyltransferase I (EC 2.4.1.133), which is involved in the synthesis of common linkage regions of proteoglycans. Recently, we isolated cDNA of the galactosyltransferase I (XGalT-1) (Okajima, T., Yoshida, K., Kondo, T., and Furukawa, K. (1999) J. Biol. Chem. 274, 22915-22918). Therefore, we analyzed mutations in this gene of a patient with progeroid type E-D syndrome by reverse transcription polymerase chain reaction and direct sequencing. Two changes of G and T to A and C at 186 and 206, respectively, were detected. Then, we determined the genomic DNA sequences encompassing the A186D and L206P mutations, revealing that the unaffected parents and two siblings were heterozygous for either one of the two different mutations and normal, while the patient had both of two different mutant genes. Enzymatic functions of cDNA clones of XGalT-1 containing the individual mutations were examined, elucidating that L206P clone completely lost the activity, while A186D retained approximately 50% or 10% of the activity when analyzed with extracts from cDNA transfectant cells or recombinant soluble enzymes, respectively. Moreover, L206P enzyme showed diffuse staining in the cytoplasm of transfectant cells, while the wild type or A186D clones showed Golgi pattern. These results indicated that the mutations in XGalT-1 were at least one of main molecular basis for progeroid type E-D syndrome. (+info)Patients with Ehlers-Danlos syndrome type IV lack type III collagen. (6/257)
One of the genetically distinct collagens (type III) normally found in skin, aorta, and intestine is missing from the tissues of patients with the Ehlers-Danlos syndrome type IV. While skin fibroblasts from other individuals synthesize both types I and III collagen. Ehlers-Danlos syndrome IV cells synthesize only type I. These results suggest that the fragile skin, blood vessels, and intestines of Ehlers-Danlos syndrome IV patients result from an absence of type III collagen. (+info)Simultaneous synthesis of types I and III collagen by fibroblasts in culture. (7/257)
Specific antibodies against types I and III collagens and procollagens were used to localize these proteins in cultured human cells. These studies indicate that the same cell makes both proteins. No type III procollagen synthesis was observed in cells from two patients with two patients with the Ehlers-Danlos type IV syndrome. (+info)Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. (8/257)
BACKGROUND: Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1). Affected patients are at risk for arterial, bowel, and uterine rupture, but the timing of these events, their frequency, and the course of the disease are not well documented. METHODS: We reviewed the clinical and family histories of and medical and surgical complications in 220 index patients with biochemically confirmed Ehlers-Danlos syndrome type IV and 199 of their affected relatives. We identified the underlying COL3A1 mutation in 135 index patients. RESULTS: Complications were rare in childhood; 25 percent of the index patients had a first complication by the age of 20 years, and more than 80 percent had had at least one complication by the age of 40. The calculated median survival of the entire cohort was 48 years. Most deaths resulted from arterial rupture. Bowel rupture, which often involved the sigmoid colon, accounted for about a quarter of complications but rarely led to death. Complications of pregnancy led to death in 12 of the 81 women who became pregnant. The types of complications were not associated with specific mutations in COL3A1. CONCLUSIONS: Although most affected patients survive the first and second major complications, Ehlers-Danlos syndrome type IV results in premature death. The diagnosis should be considered in young people who come to medical attention because of uterine rupture during pregnancy or arterial or visceral rupture. (+info)Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect connective tissues, which are the proteins and chemicals in the body that provide structure and support for skin, bones, blood vessels, and other organs. People with EDS have stretching (elastic) skin and joints that are too loose (hypermobile). There are several types of EDS, each with its own set of symptoms and level of severity. Some of the more common types include:
* Classical EDS: This type is characterized by skin that can be stretched far beyond normal and bruises easily. Affected individuals may also have joints that dislocate easily.
* Hypermobile EDS: This type is marked by joint hypermobility, which can lead to frequent dislocations and subluxations (partial dislocations). Some people with this type of EDS also have Marfan syndrome-like features, such as long fingers and a curved spine.
* Vascular EDS: This type is caused by changes in the COL3A1 gene and is characterized by thin, fragile skin that tears or bruises easily. People with vascular EDS are at risk of serious complications, such as arterial rupture and organ perforation.
* Kyphoscoliosis EDS: This type is marked by severe kyphoscoliosis (a forward curvature of the spine) and joint laxity. Affected individuals may also have fragile skin that tears or bruises easily.
EDS is typically inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the altered gene from either parent to develop the condition. However, some types of EDS are inherited in an autosomal recessive manner, which means that a person must inherit two copies of the altered gene (one from each parent) to develop the condition.
There is no cure for EDS, and treatment is focused on managing symptoms and preventing complications. This may include physical therapy to strengthen muscles and improve joint stability, bracing to support joints, and surgery to repair damaged tissues or organs.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
Ehlers-Danlos syndromes
Ehlers-Danlos Society
Rounded shoulder posture
Arthritis
Genu recurvatum
Osteoarthritis
Degenerative disease
Aneurysm
Collagen, type III, alpha 1
Bruise
Gastrointestinal perforation
Uterine rupture
Type V collagen
Outline of cardiology
New York Institute of Technology College of Osteopathic Medicine
Vertebral artery dissection
Lysyl hydroxylase
Winged cat
Arthralgia
Kyphoscoliosis
Noah Baerman
Tracheobronchomalacia
Veronica Mallett
Delta wave
Scar
Chronic fatigue syndrome
Osteogenesis imperfecta
CHST14
Walter L. Miller (endocrinologist)
List of conditions with craniosynostosis
Ehlers-Danlos syndromes - Wikipedia
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Disorders25
- Ehlers-Danlos syndromes (EDS) are a group of 13 genetic connective-tissue disorders in the current classification, with the latest type discovered in 2018. (wikipedia.org)
- Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. (medlineplus.gov)
- Ehlers-Danlos syndromes (EDS), the name given to a group of more than 10 different inherited, clinically and genetically heterogeneous group of connective-tissue disorders, involves a genetic defect in collagen and connective-tissue synthesis and structure. (medscape.com)
- Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility. (blogtalkradio.com)
- Ehlers-Danlos Syndromes (EDS) is the umbrella term for a group of genetic disorders of connective tissue, which affects the structure or function of collagen and other connective tissue proteins that act as a 'scaffold' to support structures in skin, muscles, ligaments and the gastrointestinal tract. (uk.com)
- Ehlers-Danlos syndrome (EDS) is an umbrella term for various hereditary connective tissue disorders (HCTDs) mainly characterized by congenital joint hypermobility, skin hyperextensibility, and tissue fragility. (hindawi.com)
- Symptomatic: The Symptom-Based Handbook for Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders offers a novel approach structured around the panoply of 75 symptoms with which a person with Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD) may present to a clinician. (viewpointbooks.com)
- Ehlers-Danlos syndrome is a name given to a group of hereditary connective tissue disorders which are caused by a defect in a protein called collagen. (dermatalk.com)
- Ehlers-Danlos syndromes (EDS) are a group of hereditary disorders of connective tissue supporting the skin, joints, blood vessels, and many other organs and tissues. (amplexa.dk)
- There are more than 200 of these conditions, including genetic disorders such as Ehlers-Danlos syndrome, autoimmune disorders such as scleroderma , and cancers such as soft tissue sarcomas . (medicalnewstoday.com)
- Ehlers Danlos Syndrome is the name for a group of connective tissue disorders. (compleowaco.com)
- Ehlers-Danlos Syndrome (EDS) is a group of disorders that are inherited or passed down through genetics. (healthyinfodaily.com)
- Hannon, 30, lives with Ehlers-Danlos Syndrome (EDS), a group of genetic connective tissue disorders. (chronicpainpartners.com)
- Clinical criteria for diagnosing hypermobile EDS was updated this year by The International Consortium on Ehlers-Danlos Syndromes & Related Disorders, the first time in two decades. (chronicpainpartners.com)
- Ehlers-Danlos Syndromes (EDS) are a clinically and genetically heterogeneous group of connective-tissue disorders, where the genetic defect affects collagen and connective-tissue synthesis and structure. (igenomix.net)
- The Igenomix Ehlers-Danlos Syndrome Precision Panel can be used to make a n accurate and directed diagnosis as well as a differential diagnosis of connective tissue disorders due to their overlapping phenotypic features ultimately leading to a better management and prognosis of the disease. (igenomix.net)
- Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders. (igenomix.net)
- Ehlers-Danlos syndromes are hereditary collagen disorders characterized by joint hypermobility, dermal hyperelasticity, and widespread tissue fragility. (msdmanuals.com)
- Ehlers-Danlos syndrome (EDS) comprises a group of inherited heterogeneous disorders that share a common decrease in the tensile strength and integrity of the skin, joints, and other connective tissues. (medscape.com)
- The syndrome derives its name from additional clinical case reports presented by 2 physicians: Edvard Ehlers, a Danish dermatologist, in 1901, and Henri-Alexandre Danlos, a French physician with expertise in chemistry of skin disorders, in 1908. (medscape.com)
- Both physicians combined the pertinent features of the syndrome and accurately delineated the phenotypic features of this group of inherited disorders. (medscape.com)
- This Ehlers-Danlos Syndromes (EDS) Physician Education Program is a series of online courses covering the fundamental principles for the diagnosis, classification, and treatment of Ehlers-Danlos Syndromes and related disorders as well as associated conditions. (wisc.edu)
- Some gaps in the educational system do not contemplate fundamental reflections on the learning disorders related to the different syndromes studied and about the contributions necessary for the reception of the syndromic population in the schools. (bvsalud.org)
- Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders caused by varying genetic defects primarily in the structure, production, and/or processing of collagen. (jillcarnahan.com)
- The Ehlers-Danlos Society is a global community of patients, caregivers, health care professionals, and supporters, dedicated to saving and improving the lives of those affected by the Ehlers-Danlos syndromes, hypermobility spectrum disorders, and related conditions. (askjan.org)
Symptoms10
- Diagnosis is often based on symptoms and confirmed by genetic testing or skin biopsy, but people may initially be misdiagnosed with hypochondriasis, depression, or chronic fatigue syndrome. (wikipedia.org)
- According to the Ehlers-Danlos Society, the syndromes can also be grouped by the symptoms determined by specific gene mutations. (wikipedia.org)
- Other types of Ehlers-Danlos syndrome have additional signs and symptoms. (medlineplus.gov)
- Ehlers Danlos syndrome diagnosis is usually made by the presenting clinical symptoms and a family history. (dermatalk.com)
- There is no specific treatment for Ehlers-Danlos syndrome and treatment are usually based upon managing your presenting symptoms and prevent further complications. (dermatalk.com)
- Marfan syndrome has no cure, but treatments can help people manage symptoms. (medicalnewstoday.com)
- Symptoms and signs of Ehlers-Danlos syndromes vary widely, but certain manifestations are considered characteristic of different types. (msdmanuals.com)
- Abnormalities of muscle tissues, including hypotonia and permanently bent joints (contractures), are a few of the function signs and symptoms of the musculocontractural and myopathic varieties of Ehlers-Danlos syndrome. (usa-good.com)
- If you suspect that you have an Ehlers-Danlos Syndrome, you should have your physical signs and symptoms matched up to the criteria for each subtype to get the best-fitting diagnosis. (jillcarnahan.com)
- Ehlers-Danlos Syndromes are complex and multisystem diseases with clinical symptoms that vary depending on the type of collagen altered. (jillcarnahan.com)
Types of Ehlers-Danlos s3
- The 2017 classification describes 13 types of Ehlers-Danlos syndrome. (medlineplus.gov)
- The combined prevalence of all types of Ehlers-Danlos syndrome appears to be at least 1 in 5,000 individuals worldwide. (medlineplus.gov)
- What are the different types of Ehlers-Danlos syndrome? (healthincode.com)
Classical Ehlers-Danlos S3
- What is Classical Ehlers-Danlos Syndrome (cEDS)? (ehlers-danlos.org.nz)
- Classical Ehlers-Danlos Syndrome is an inherited connective tissue disorder (Autosomal Dominant - a child of one parent with EDS has a 50% chance of inheriting), that is caused by defects in a protein called collagen . (ehlers-danlos.org.nz)
- Classical Ehlers-Danlos Syndrome (cEDS) is one of the more common types of EDS, along with Hypermobile Ehlers-Danlos Syndrome (hEDS). (ehlers-danlos.org.nz)
HEDS3
- Often we will see younger patients who have been diagnosed with Hypermobile type Ehlers-Danlos syndrome (hEDS) or general joint hypermobility (GJH). (caringmedical.com)
- Searching for criteria for Ehlers-Danlos Syndrome (hEDS) in Adolescents because standard care patients do not get better. (caringmedical.com)
- Although hypermobile Ehlers-Danlos syndrome (hEDS) is the most common type of EDS, its genetic etiology is unclear. (bmj.com)
Brittle cornea syndrome is characterized2
- A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. (medlineplus.gov)
- A sort of Ehlers-Danlos syndrome known as brittle cornea syndrome is characterized with the aid of thinness of the clear overlaying of the eye (the cornea) and other eye abnormalities. (usa-good.com)
Collagen2
- Ehlers-Danlos syndromes (EDS) are a group of inherited conditions that cause abnormal collagen function. (healthline.com)
- Due to incorrect function of the enzymes that synthesize collagen, the protein that binds the body's tissues together, individuals affected by this syndrome usually present with joint hypermobility, skin hyperextensibility (easily stretched and damaged skin), and tissue fragility. (healthincode.com)
Henri-Alexandre Danlos1
- The syndromes are named after two physicians, Edvard Ehlers and Henri-Alexandre Danlos, who described them at the turn of the 20th century. (wikipedia.org)
Vascular10
- Bleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. (medlineplus.gov)
- During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. (medlineplus.gov)
- In 1 patient, the vascular type of Ehlers-Danlos syndrome (EDS) was associated with mild hemophilia A. (medscape.com)
- Vascular Ehlers-Danlos syndrome (vEDS) is a rare condition characterized by connective tissue fragility. (biomedcentral.com)
- Vascular Ehlers-Danlos syndrome (vEDS, OMIM #130050) is a rare inherited connective tissue disorder with a prevalence estimated at 1/150000. (biomedcentral.com)
- The most common type of bleeding problems arise in Vascular Ehlers-Danlos Syndrome. (healthyinfodaily.com)
- Bleeding problems are not unusual inside the vascular sort of Ehlers-Danlos syndrome and are due to unpredictable tearing (rupture) of blood vessels and organs. (usa-good.com)
- A more extreme shape of the disease, referred to as vascular Ehlers-Danlos syndrome, can cause the walls of your blood vessels, intestines or uterus to rupture. (usa-good.com)
- Because vascular Ehlers-Danlos syndrome may have serious ability headaches in being pregnant, you could want to talk to a genetic counselor earlier than starting a circle of relatives. (usa-good.com)
- A case of vascular Ehlers-Danlos syndrome with a ruptured hepatic artery after surgical treatment of peritonitis caused by the perforation of the colon. (bvsalud.org)
Hypermobility and dislocations2
- In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth. (medlineplus.gov)
- In the arthrochalasia kind of Ehlers-Danlos syndrome, toddlers have hypermobility and dislocations of each hips at beginning. (usa-good.com)
Named using Roman nu2
- Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). (medlineplus.gov)
- Originally, eleven kinds of Ehlers-Danlos syndrome had been named using Roman numerals to suggest the types (type I, kind II, and so forth). (usa-good.com)
Disease5
- There is no cure for Ehlers Danlos Disease and treatment options are often unsatisfactory. (dermatalk.com)
- It seems similar to fibromyalgia in that connective tissue is affected, through of course fibromyalgia is an autoimmune disease and Ehlers-Danlos is not. (dermatalk.com)
- A review of literature, narrative type, this article addresses the need for attention to the integrative inclusion of Ehlers Danlos Syndrome-Type Hypermobility (EDS-JH), hereditary connective tissue disease, and benign Articular Hypermobility (JH) due to the fact that some studies make considerations about the association between these conditions and possible learning disordersty and limitations of patients with EDS-JH/ JHS and JH. (bvsalud.org)
- A Streptococcus-related disease including toxic shock syndrome. (cdc.gov)
- orthostatic tachycardia syndrome, autoinflammatory periodic fever syndrome, Lyme disease , and reactivated Epstein-Barr infection. (medscape.com)
Velvety skin1
- Many people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. (medlineplus.gov)
Autoimmune1
- syndrome (myalgic encephalomyelitis), and autoimmune-related diseases. (medscape.com)
Type20
- An unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. (medlineplus.gov)
- One patient with Ehlers-Danlos syndrome type IV has been diagnosed with gastric adenocarcinoma. (medscape.com)
- Rombaut et al performed a cross-sectional study of self-reported medication use, surgery, and physiotherapy in 79 patients with hypermobility-type Ehlers-Danlos syndrome (EDS) (type III), finding that 73 patients (92.4%) were taking medication, 56 (70.9%) had undergone surgery, and 41 (51.9%) were currently receiving physical therapy. (medscape.com)
- Ehlers-Danlos Syndrome hypermobility type is one of six different types of Ehlers-Danlos syndromes, and it is the most common. (marfan.org)
- Ehlers-Danlos syndrome hypermobility type is a connective tissue disorder that predominantly affects the skeletal system. (marfan.org)
- What other names do people use for Ehlers-Danlos syndrome hypermobility type? (marfan.org)
- What are the characteristics of Ehlers-Danlos syndrome hypermobility type? (marfan.org)
- What causes Ehlers-Danlos hypermobility type? (marfan.org)
- How is Ehlers-Danlos syndrome hypermobility type managed? (marfan.org)
- Find these answers and more in the "Ehlers-Danlos Syndrome Hypermobility Type" download. (marfan.org)
- Ehlers-Danlos syndrome hypermobility type a. k. a. joint hypermobility syndrome (JHS/EDS-HT) is a hereditary musculoskeletal disorder associating generalized joint hypermobility with chronic pain. (hindawi.com)
- Hypermobile Ehlers-Danlos syndrome is now considered the most prevalent type of heritable disorder of connective tissue in the world, and the prevalence for association of generalised joint hypermobility and widespread pain is higher still. (edhs.info)
- Brittle Cornea Syndrome (BCS) is a rare autosomal recessive disorder with biallelic mutations on either ZNF469 (type 1) or PRDM5 (type 2). (ehlersdanlosaus.com)
- The Ehlers Danlos Society provides specific details about each type here . (compleowaco.com)
- POTS (Postural Orthostatic Dysautonomia Syndrome) - a type of dysautonomia that relates to challenges maintaining blood flow and pressure throughout the body, especially when going from lying down to standing up. (compleowaco.com)
- Ehlers Danlos Syndrome is a type of rare condition that affects the connective tissues as well as tooth development. (sunrisedentalarizona.com)
- Scheper MC, Nicholson LL, Adams RD, Tofts L, Pacey V. The natural history of children with joint hypermobility syndrome and Ehlers-Danlos hypermobility type: a longitudinal cohort study. (igenomix.net)
- Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. (igenomix.net)
- An strangely massive variety of joint motion (hypermobility) takes place in maximum varieties of Ehlers-Danlos syndrome, and it's far a trademark feature of the hypermobile type. (usa-good.com)
- Joint hypermobility handbook: a guide for the issues & management of Ehlers-Danlos Syndrome hypermobility type and the hypermobility syndrome. (cdc.gov)
Rupture2
- Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types. (medlineplus.gov)
- People with Marfan syndrome are at up to 250 times greater risk of aortic dissection (a tear or rupture between layers of the aortic wall) than the general population. (marfan.org)
20172
- In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. (medlineplus.gov)
- In 2017, the class became updated to include rare forms of Ehlers-Danlos syndrome that have been diagnosed more these days. (usa-good.com)
Joints5
- Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. (medlineplus.gov)
- Ehlers-Danlos syndrome (EDS) refers to a group of hereditary genetic diseases that affect the connective tissue , whose function is to provide cohesion to other body tissues and support many body parts such as skin, joints, blood vessels, and internal organs. (healthincode.com)
- Ehlers-Danlos syndrome is a collection of inherited problems that affect your connective tissues - mainly your pores and skin, joints and blood vessel partitions. (usa-good.com)
- People who've Ehlers-Danlos syndrome normally have overly bendy joints and stretchy, fragile skin. (usa-good.com)
- And although Ehlers-Danlos Syndromes mostly affect the joints and skin, the severity of the defects in the connective tissues range from mild discomfort to life-threatening. (jillcarnahan.com)
Clinical1
- EDS-HT typically features joint laxity and related complications, chronic/recurrent limb pain, and minor skin involvement [ 1 ], although its extended clinical spectrum covers a wide variety of functional somatic syndromes [ 2 ]. (hindawi.com)
Joint6
- An international panel of experts now considers EDS-HT one and the same as joint hypermobility syndrome (JHS) [ 3 ], and this overlap is particularly evident in adulthood. (hindawi.com)
- TMJ and Joint Hypermobility Syndrome, undiagnosed. (caringmedical.com)
- In 9 out of 10 patients with TMJ diagnosed patients with Joint Hypermobility Syndrome - pain does not come from degenerated TMJ discs. (caringmedical.com)
- What is Joint Hypermobility Syndrome? (caringmedical.com)
- Since the connective tissue is the tissue that helps body growth as well as serving as a scaffold for cells and organs, Ehlers-Danlos is a pleiotropic syndrome affecting the skin, joint s and blood vessels. (igenomix.net)
- This rare connective tissue disorder characterized by joint hypermobility, skin elasticity and tissue fragility has recently, through the efforts of The Ehlers-Danlos Society, become more well known. (inspire.com)
Variants1
- Variants (also known as mutations) in at least 20 genes have been found to cause the Ehlers-Danlos syndromes. (medlineplus.gov)
Wounds2
- People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars . (medlineplus.gov)
- People with the classical shape of Ehlers-Danlos syndrome enjoy wounds that cut up open with little bleeding and leave scars that widen through the years to create function "cigarette paper" scars. (usa-good.com)
Complications1
- If you suffer from any of the bleeding complications listed above, this can be a sign of Ehlers-Danlos Syndrome. (healthyinfodaily.com)
Spectrum2
- one that is tailored specifically to those with hypermobile Ehlers-Danlos syndrome, and hypermobility spectrum disorder, and provides a clear, concise and balanced overview - one that allows you to 'see the woods from the trees! (edhs.info)
- Autism is a spectrum disorder with mental disorder not otherwise specified (12%) had PDD-NOS, 6 (3%) had cases ranging from a relatively mild (PDD-NOS), including atypical au- Asperger syndrome and 2 (1%) had problem with social interaction to more tism, or iii) Asperger disorder [11]. (who.int)
Heterogeneous1
- but Ehlers-Danlos syndromes are heterogeneous. (msdmanuals.com)
20181
- In 2018, the Ehlers-Danlos Society began the Hypermobile Ehlers-Danlos Genetic Evaluation (HEDGE) study. (wikipedia.org)
Mast1
- What Does Mast Cell Activation Syndrome Have to do With Ehlers-Danlos Syndromes? (jillcarnahan.com)
Patient3
- Patient with Ehlers-Danlos syndrome. (medscape.com)
- Dorsal view of a patient with Ehlers-Danlos syndrome. (medscape.com)
- Cigarette-paper-like scars over the knees of a patient with Ehlers-Danlos syndrome. (medscape.com)
Blood vessels1
- Ehlers-Danlos syndrome is a set of problems that have an effect on connective tissues helping the skin, bones, blood vessels, and plenty of other organs and tissues. (usa-good.com)
Marfan6
- Le syndrome de Marfan est souvent à l'origine de problèmes au niveau des os et des articulations. (marfan.org)
- Ce sont en réalité souvent ces caractéristiques qui amènent en premier une personne à soupçonner un syndrome de Marfan et à chercher à obtenir un diagnostic. (marfan.org)
- Join us in the fight for victory over Marfan syndrome and related conditions and help us create a brighter future for everyone living with these conditions. (marfan.org)
- Marfan syndrome arises from a change in a gene that codes for the protein fibrillin, which is a key component of connective tissue. (medicalnewstoday.com)
- People with Marfan syndrome tend to be tall and slender with long limbs, fingers, and toes. (medicalnewstoday.com)
- People with Marfan syndrome may be more prone to aortic aneurysms . (medicalnewstoday.com)
Disorder4
- If you or your family have Ehlers-Danlos syndrome you are advice to get a Genetic counseling to access the risk of inherited disorder before starting a new family or planning for a baby. (dermatalk.com)
- Stickler syndrome is an autosomal dominant disorder , which means a person needs only one altered gene to develop the condition. (medicalnewstoday.com)
- The Ehlers-Danlos syndrome, a disorder with many faces. (igenomix.net)
- Ehlers-Danlos syndrome (EDS) is an inherited disorder that causes connective tissue fragility. (bvsalud.org)
Organs1
- Ehlers-Danlos syndrome is a group of inherited conditions that affect connective tissues that aid organs and different tissues during the body. (usa-good.com)
Society3
- Both follow the Ehlers Danlos Society and participate in continuing education related to EDS. (compleowaco.com)
- A dazzle of zebras: Ehlers-Danlos Syndromes By Hannah Eccard On their website, The Ehlers-Danlos Society explains why people with Ehlers-Danlos Syndromes (EDS) call themselves zebras. (inspire.com)
- The Ehlers-Danlos Society was originally established as a nonprofit organization in 1985 as the Ehlers-Danlos National Foundation (EDNF) by Nancy Hanna Rogowski (1957-1995). (askjan.org)
Common1
- Ehlers-Danlos Syndrome (EDS) and other hyper-mobility conditions are much more common than people realize. (chiropractor-irvine.com)
Dermal1
- Hermanns-Lê T, Piérard GE, Piérard-Franchimont C and Delvenne P. Gynecologic and obstetric impact of the ehlers-danlos syndrome : clues from scrutinizing dermal ultrastructural alterations . (hoajonline.com)
Individuals3
- Individuals with Ehlers-Danlos syndrome (EDS) demonstrate connective-tissue abnormalities due to defects in the inherent strength, elasticity, integrity, and healing properties of the tissues. (medscape.com)
- In this article, we will explore 23 signs that may resonate with individuals who grew up with Ehlers-Danlos Syndrome. (tipsforhealty.com)
- Growing up with Ehlers-Danlos Syndrome comes with a unique set of challenges, but it also shapes individuals into resilient, empathetic, and strong individuals. (tipsforhealty.com)
Skin1
- This adorable male cat has loose skin caused by a rare condition called Ehlers-Danlos syndrome. (pictures-of-cats.org)