Delayed wound healing is only present in a subset of patients. EDSCLL inheritance is autosomal recessive. [uniprot.org]

When the first two major criteria are present in the individual at birth, during early childhood, or when the first and third major criteria are present in adolescents and adults, mcEDS is suggested. [news-medical.net]

| N Engl J Med 2018; 379:2452-2461 An 18-year-old man presented with diplopia and proptosis of the left eye. [nejm.org]

Learn more from her very informative video presentation. Be sure to watch all 6 presentations by … [pinterest.at]

Because of the multi-organ involvement and varied presentation of this disease, no uniform or routine obstetric and anesthetic recommendations can be made for the perinatal care of these patients. We present a ... [citeulike.org]

• Weakness

  […] muscle tone 0001252 Myalgia Muscle ache Muscle pain [ more ] 0003326 Proximal muscle weakness Weakness in muscles of upper arms and upper legs 0003701 Sensory neuropathy Damage to nerves that sense feeling 0000763 Skeletal muscle atrophy Muscle degeneration [rarediseases.info.nih.gov]

  Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. [orpha.net]

  Other symptoms may include velvety skin, joint pain, and muscle weakness. Some cases have included mitral valve prolapse, which affects blood flow between the chambers of the heart. [diseaseinfosearch.org]

  Voermans NC et al. (2007) Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies. [^] 11. [moldiag.com]

  Ehlers-Danlos syndromes are 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. [medicinenet.com]

• Fatigue

  Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. [orpha.net]

  Fibromyalgia & Myalgic Encephalopathy (ME)/Chronic Fatigue Syndrome (CFS) are often diagnosed in place of EDS-Hypermobility. It is worth noting here that it is entirely possible to have EDS & Fibromyalgia &/or ME. [whentaniatalks.com]

  Herbst is also convinced that the RCCX module is involved in these conditions, given the high rate of hypermobility, chronic fatigue and psychiatric illness in this population. The team is moving forward. [me-pedia.org]

  Fatigue and sleep disturbance are frequently associated with EDS hypermobility type and affected individuals are often diagnosed with chronic fatigue syndrome, fibromyalgia, depression, hypochondriasis, and/or malingering prior to recognition of joint [bredagenetics.com]

  Muscle pain and muscle fatigue are common complaints as well. In terms of unique facial features, individuals may have extra skin folds under their eyes. [fdna.health]

• Anemia

  […] and myoglobinuria due toPGK1|PGK Michigan|hemolytic anemia and mental retardation due toPGK1|PGK Amiens|hemolytic anemia due toPGK1|PGK Matsue|nonspherocytic hemolytic anemia due toPGK1|PGK IIPGK1|PGK Uppsala|hemolytic anemia due toPGK1|PGK Tokyo|nonspherocytic [docslide.us]

  Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. ‎ Pagina 397 - Gly Lys Lys Val Leu Gly Ala Phe Ser Asp Gly Leu Ala His Leu Asp Asn Leu Lys Gly Thr NO. ‎ [books.google.it]

  […] type, due to 21-hydroxylase deficiency, 201910 (3) DDX11 Warsaw breakage syndrome, 613398 (3) DRD4 Autonomic nervous system dysfunction (3) [Novelty seeking personality], 601696 (1) {Attention deficit-hyperactivity disorder}, 143465 (3) FANCD2 Fanconi anemia [mendel.medicina.ufmg.br]

  Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia (summary by Anderson et al., 2012 and Polvi et al., 2012 ).Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome ( OMIM [mendelian.co]

  In adults, megaloblastic anemia can result from long term folate deficiency. Other signs of folate deficiency are often subtle. [mthfrheds.com]

• Short Finger

  finger Bicuspid aortic valve Abnormality of the metacarpal bones Meningitis Aortic valve stenosis Small nail Pulmonary arterial hypertension Pachygyria Hypoplastic left heart Coarctation of aorta Tetralogy of Fallot Esotropia Premature birth Short distal [mendelian.co]

• Easy Bruising

  […] pain, easy bruising, easy bleeding, normal scars Dominant TNXB ( (Not available through CDL) Vascular Type (EDS type IV) Thin, translucent skin with visible veins; marked bruising; skin and joints have normal extensibility; arterial, bowel and uterine [uwcpdx.org]

  […] a Easy bruising; thin skin; androgenic alopecia LV enlargement Patient 11 F/31 SW 2 Hip laxity; chronic arthralgia a ; shoulder subluxation Easy bruising, wide scars Diagnosed with fibromyalgia at age 24 Patient 12 M/31 SW 0 Hypermobile fingers; multiple [academic.oup.com]

  bruising without atrophic scarring. [orpha.net]

  Symptoms - Ehlers-Danlos syndrome caused by tenascin-X deficiency * Hypermobile joints * Joint dislocation * Muscle pain * Skeletal pain * Easy bruising * Hyperextensible skin Causes - Ehlers-Danlos syndrome caused by tenascin-X deficiency Not supplied [checkorphan.org]

  Ehlers-Danlos syndromes are 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. [medicinenet.com]

• Ectopia Lentis

  Differential diagnosis of MFS Familial ectopia lentis syndrome (ELS) Per the revised Ghent nosology, diagnostic criteria for ELS include ectopia lentis and an FBN1 mutation not previously known to cause aortic root dilatation or dissection, or absence [rheumatologyadvisor.com]

  lentis|familialFBN1|Mass syndromeFBN1|Marfan syndrome|neonatalFBN1|Marfan syndrome|classicFBN1|Marfan syndrome|subdiagnostic variant ofFGA|Fibrinogen Aarhus 1FGA|Afibrinogenemia|congenitalFGA|Venous thromboembolism|susceptibility toFGA|Fibrinogen NieuwegeinFGA [docslide.us]

• Papule

  Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. [orpha.net]

  In our patients with TNXB haploinsufficiency, joint hypermobility was a predominant clinical feature in addition to variable findings of chronic joint pain, soft tissue rheumatism, joint dislocations, piezogenic papules, and pes planus. [academic.oup.com]

  Skin laxity (1, 2, 3), wide scars (4), hypermobile joints (5), and piezogenic pedal papules (6) were found. [ncbi.nlm.nih.gov]

  Bilateral piezogenic papules of the heel. Recurrent or multiple abdominal hernia(s) - umbilical, inguinal, crural. [patient.info]

  Other dermatologic features in cEDS: Molluscoid pseudotumors Subcutaneous spheroids Piezogenic papules: small, painful, reversible herniations of underlying adipose tissue globules through the fascia into the dermis, such as on medial and lateral aspects [0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk]

• Muscle Weakness

  Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. [orpha.net]

  Other symptoms may include velvety skin, joint pain, and muscle weakness. Some cases have included mitral valve prolapse, which affects blood flow between the chambers of the heart. [diseaseinfosearch.org]

  Voermans NC et al. (2007) Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies. [^] 11. [moldiag.com]

  muscle tone 0001252 Myalgia Muscle ache Muscle pain [ more ] 0003326 Proximal muscle weakness Weakness in muscles of upper arms and upper legs 0003701 Sensory neuropathy Damage to nerves that sense feeling 0000763 Skeletal muscle atrophy Muscle degeneration [rarediseases.info.nih.gov]

• Arthralgia

  […] enlargement Sister of patient 9 F/15 SW 1 Hypermobile shoulders Normal Patient 10 F/22 SW 2 Hypermobile fingers; chronic arthralgia a Easy bruising; thin skin; androgenic alopecia LV enlargement Patient 11 F/31 SW 2 Hip laxity; chronic arthralgia a ; [academic.oup.com]

  Its major criteria are a Beighton score of 4/9 or greater and arthralgia, but the diagnosis can also be based on the presence of minor criteria, including abnormal skin and joint (sub)luxations. [ard.bmj.com]

  […] evaluated for fever, arthralgias, and testicular pain. [nejm.org]

  The mother of P2 (heterozygous for exon 35 120bp deletion) had hypermobile large and small joints and chronic arthralgia. [ncbi.nlm.nih.gov]

  Arthralgia for > 3 months in ≥ 4 joints. Minor criteria Beighton score of 1, 2, or 3 out of 9 (or 0, 1, 2, or 3 if ≥ 50 years of age). Arthralgia in 1 to 3 joints or back pain, spondylosis, or spondylolysis/spondylolisthesis. [rheumatologyadvisor.com]

• Hyperlaxity

  The aim of which was to provide an overview of hyperlaxity of joints and this edition follows that aim by describing the most recent research and new developments in biochemistry, as well as providing practical advice on clinical features and management [books.google.com]

  In addition, she had atrophic paper scars on the face, elbows, knees, and shins; ecchymoses on the lower legs; and generalized joint hyperlaxity. [ncbi.nlm.nih.gov]

  Joint hyperlaxity was limited to the1234 HUMAN MUTATION, Vol. 31, No. 11, 12331239, 2010metacarpophalangeal joints. She presented talipes valgus andplanus. [vdocuments.net]

  National Library of Medicine - PubMed Health Ehlers-Danlos Support UK Ehlers-Danlos Foundation of New Zealand References [ edit ] ↑ Cashin-Garbutt, A; 2014 'Double-Jointed - Joint Hyperlaxity/Hypermobility'; http://www.news-medical.net/health/What-is-Double-Jointed.aspx [en.wikibooks.org]

  They are commonly associated with joint hyperlaxity and dislocation. Involvement of the S2-S4 joints is responsible for the Alcock canal syndrome with pelvic pain worsened by sitting [ 21 ]. [hoajonline.com]

• Brachydactyly

  Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. [orpha.net]

  Arsenic Poisoning CD44 Arthritis, Juvenile SMAD3 Asthma MMP9 Astrocytoma MMP9 Atrial Fibrillation VWF Atrial Septal Defect 6 TLL1 Attention Deficit Hyperactivity Disorder GRM1 Basal Ganglia Diseases PDGFB Bone Diseases, Endocrine PDGFA Bone Neoplasms MMP9 Brachydactyly [selfdecode.com]

  CDG1B Low match ADAMS-OLIVER SYNDROME 1; AOS1 Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly [mendelian.co]

  Acrogeric hands, mallet finger(s), clinodactyly, brachydactyly. [patient.info]

  |type A2BMPR1B|Chondrodysplasia|acromesomelic|with genital anomaliesBMPR1B|Brachydactyly|type CTP63|Ectrodactyly|ectodermal dysplasia|and cleft lip/palate syndrome 3TP63|Ankyloblepharon-ectodermal defects-cleft lip/palateTP63|Limb-mammary syndromeTP63 [docslide.us]

• Myalgia

  Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. [orpha.net]

  The patient had exercise intolerance, myalgias, and increased serum creatine kinase. [bredagenetics.com]

  Bruise easily Easy bruisability Easy bruising [ more ] 0000978 Fatigue Tired Tiredness [ more ] 0012378 Hyperextensible skin Hyperelastic skin Skin hyperelasticity Stretchable skin [ more ] 0000974 Muscular hypotonia Low or weak muscle tone 0001252 Myalgia [rarediseases.info.nih.gov]

  […] skin A tendency to bruise easily Abnormal hip bone Loose joints (laxity of joints); overly-flexible joints i.e., a range of joint movement beyond what is normally observed Joint pain; vulnerability to joint dislocations (elbows, shoulder, kneecap, jaw) Myalgia [dovemed.com]

  […] such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse ) [5] Fibromyalgia symptoms: Myalgia [dysautonomiaconnection.org]

• Memory Impairment

  impairment Migraine Dyskinesia Death in infancy Neurological speech impairment Attention deficit hyperactivity disorder Carcinoma Dysgraphia Amaurosis fugax Intellectual disability, moderate Hypertelorism Polydactyly Agenesis of corpus callosum Heterogeneous [mendelian.co]

  impairment and brain fog. [mthfrheds.com]

  impairment|susceptibility toBDNF|Bulimia nervosa|age of onset of weight loss inBRCA1|Ovarian cancer|sporadicBRCA1|Breast-ovarian cancerBRCA1|Breast cancerUCP1|UCP1 polymorphismCOL17A1|Epidermolysis bullosa|generalized atrophic benignCOL17A1|Epidermolysis [docslide.us]

• Asthenia

  Type V collagen (COL5A1 or COL5A2) or rarely type I (COL1A1) Hypermobile (previously III) Prevalence between 1/5000 and 1/20000    pain sprains/multiple luxations asthenia Clinical diagnosis ;unknown gene (rarely tenascin X) Vascular (previously IV [doctiktak.com]

  Muscle rigidity, diffuse muscle-skeletal pain, paresthesia, sleep disturbances and fatigability (asthenia) are the main clinical features of this sometimes aspecific condition. [bredagenetics.com]

• Paresis

  […] abnormalitiesFKRP|Muscular dystrophy|congenital|1cFKRP|Muscular dystrophy|limb-girdle|2iFKRP|Walker-Warburg syndromeFKRP|Muscle-eye-brain diseaseGDAP1|Charcot-Marie-tooth disease|demyelinating|autosomal recessive|type 4AGDAP1|Neuropathy|axonal|with vocal cord paresis [docslide.us]

• Chlamydia

  Immunodeficiency Disease (CVID); IgA deficiency; chronic fungal infections; recurrent herpes simplex virus (HSV) infections; no colds for years; severe bacterial infections; inability to clear chronic bacterial and viral infections (strep/Epstein Barr/mycoplasma/chlamydia [me-pedia.org]

More Symptoms of Ehlers-Danlos syndrome due to tenascin-X deficiency » Diagnosis See also related information on diagnosis: Diagnosis of Ehlers-Danlos Syndrome Treatments See also the following treatment articles: Treatments for Ehlers-Danlos Syndrome [familydiagnosis.com]

Dempster has published over 200 research papers on the pathophysiology and treatment of bone disese. Dr. [books.google.com]

The prospect of an actual treatment is wonderful news for these patients." [investors.dna.com]

Retinal blood flow before and after treatment is shown in videos. [nejm.org]

Ziopharm is employing novel gene expression and control technology to deliver DNA for the treatment of cancer. [stockmatusow.com]

Prognosis - Ehlers-Danlos syndrome caused by tenascin-X deficiency Not supplied. Treatment - Ehlers-Danlos syndrome caused by tenascin-X deficiency Not supplied. Resources - Ehlers-Danlos syndrome caused by tenascin-X deficiency Not supplied. [checkorphan.org]

What is the Prognosis of Ehlers-Danlos Syndrome, Hypermobility Type? (Outcomes/Resolutions) The prognosis of Ehlers-Danlos Syndrome, Hypermobility Type is determined by the severity of the disorder and overall health of the affected individual. [dovemed.com]

Prognosis The outlook for individuals with EDS depends on the type of EDS with which they have been diagnosed. Symptoms vary in severity, even within one sub-type, and the frequency of complications changes on an individual basis. [dysautonomiaconnection.org]

Valve-sparing operations appear to associate with lower rates of valve-related complications and better long-term prognosis. [rheumatologyadvisor.com]

Etiologies of Chronic Low Back Pain While herniated disc, spinal stenosis, spondylosis, and facet arthropathy are often considered along with myofascial origins, myofascial trigger points (TrPs) have been shown as coexisting with the other commonly accepted [edsinfo.wordpress.com]

Except for a small subset with Haploinsufficiency of Tenascin X Deficiency, the etiology is currently unknown. To this end, diagnosis is strictly clinical. [mthfrheds.com]

A deficiency of tenascin X is etiological in at least one form of EDS. Tenascin X is a glycoprotein which possesses anti-adhesive effects. [metabolichealing.com]

(Etiology) It is believed that Ehlers-Danlos Syndrome, Hypermobility Type is caused by genetic mutations. In most cases, the exact cause for the disorder is not known. In some cases, however, mutation(s) in the TNXB gene lead to this disorder. [dovemed.com]

Etiology of alopecia areata (AA) suggests a predominantly autoimmune reaction. Correlation between AA and psychologic disorders is reciprocal. [allmedx.com]

Her primary research interest is the epidemiology of osteoporosis, osteoporosis treatment and the consequences of osteoporosis in both men and women. [books.google.com]

It is updated with the most recent basic clinical research, epidemiological findings, medical, surgical and endovascular therapies of the aorta. [link.springer.com]

Relevant External Links for TNXB Genetic Association Database (GAD) TNXB Human Genome Epidemiology (HuGE) Navigator TNXB Atlas of Genetics and Cytogenetics in Oncology and Haematology: TNXB No data available for Genatlas for TNXB Gene Sequences promoting [genecards.org]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

|2009|Weinstock MA,Moses AM,|metabolism,epidemiology,prevention & control,administration & dosage,biosynthesis,epidemiology,prevention & control,administration & dosage,biosynthesis, Vitamin D levels in patients with albinism compared with those in normally [allmedx.com]

Dempster has published over 200 research papers on the pathophysiology and treatment of bone disese. Dr. [books.google.com]

Online presence [ edit | edit source ] Website Facebook Email: [email protected] Learn more [ edit | edit source ] RCCX Theory - Pathophysiology Diagrams References [ edit | edit source ] [me-pedia.org]

Credit must be given to Sharon Meglathery, MD for elucidating the pathophysiology and various related theories of EDS. [metabolichealing.com]

The role of sex hormones in the pathophysiology of these disorders has remained unclear. [rccxandillness.com]

5] Australia has just hosted its' first EDS conference in July 2014 which was open to medical professionals, allied health professionals but perhaps more importantly, those suffering from EDS and their families. http://www.edsconference.com.au/2014/ Pathophysiology [en.wikibooks.org]

Prevention - Ehlers-Danlos syndrome caused by tenascin-X deficiency Not supplied. [checkorphan.org]

Study Finds Majority Of Accidental Heroin Overdoses Could Be Prevented With Less Heroin – The Onion – America’s Finest News Source This is actually a good point to make: Why not go after the real problem drug, heroin, which is never used for pain, but [edsinfo.wordpress.com]

Ehlers-Danlos Syndrome, Hypermobility Type is a genetic disorder, and currently, there are no methods or guidelines available to prevent its occurrence. [dovemed.com]

Dominant mutations in COL1A1 and COL1A2 can prevent cleavage and cause arthrochalasia, while recessive loss of the N -procollagen peptidase cause dermatosparaxis. (V) Collagen molecules self-assemble into heterotypic fibrils. [jci.org]