A síndrome de Ehlers-Danlos, tipo hipermobilidade (HT-EDS) é a forma mais frequente de SDE, um grupo de doenças hereditárias do tecido conjuntivo, e é caracterizada por hiperfrouxidão articular, hiperextensibilidade leve da pele, fragilidade tecidual e manifestações extramusculoesqueléticas.
Introdução
O que você precisa saber de cara
A síndrome de Ehlers-Danlos, tipo hipermobilidade (HT-EDS) é a forma mais frequente de SDE, um grupo de doenças hereditárias do tecido conjuntivo, e é caracterizada por hiperfrouxidão articular, hiperextensibilidade leve da pele, fragilidade tecidual e manifestações extramusculoesqueléticas.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 31 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 75 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Ehlers-Danlos hipermobilidade
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome Ehlers-Danlos hipermobilidade
Centros para Síndrome Ehlers-Danlos hipermobilidade
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Children and adolescents with disorders of gut-brain interaction with comorbid hypermobility and orthostatic intolerance have worse outcomes.
Disorders of gut-brain interaction (DGBI) affect about 40% of children and are often comorbid with hypermobility spectrum disorders (HSDs) and orthostatic intolerance (OI). However, how these comorbidities impact outcomes in pediatric DGBI is not well understood. This study aimed to compare outcomes in DGBI patients with HSD, OI, both, or neither. We reviewed records of patients aged 9-21 years from a multidisciplinary DGBI clinic. Patients met Rome IV criteria for DGBI and had documented HSD and/or OI diagnoses from specialists in gastroenterology, rheumatology, genetics, cardiology, adolescent medicine, and others. HSD terms included Ehlers-Danlos syndrome, hypermobile Ehlers-Danlos syndrome, and generalized hypermobility; OI terms included postural orthostatic tachycardia syndrome, dysautonomia, and orthostatic hypotension. Clinical data included the following validated questionnaires: abdominal pain index, nausea severity scale, functional disability inventory, patient health questionnaire-9 (Depression), children somatization inventory, pediatric insomnia severity index, pain catastrophizing scale for children, and screen for child anxiety related disorders (Anxiety). We compared DGBI patients with both HSD and OI, those with either disorder, and those without. Of 175 patients, 46% had HSD and 43% had OI. Patients with both HSD and OI had significantly worse nausea, depression, disability, and somatization scores than others (p < 0.01). HSD and OI groups individually also showed worse outcomes than non-HSD/non-OI groups. Moderate correlations were found between depression and anxiety in OI and nausea and disability in HSD. Comorbid HSD and OI worsen DGBI symptoms. Accurate diagnosis and treatment are critical to improving outcomes due to shared autonomic dysfunction.
Prevalence of Intracranial and Cervical Artery Abnormalities in Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Presenting to an Academic Headache Clinic.
Background/Objective: It remains unknown whether patients with the more common forms of hypermobility carry an elevated risk for the development of intracranial/cervical artery abnormalities. The objective of this study was to determine the prevalence of unruptured intracranial aneurysms, spontaneous cervical artery dissections, and fibromuscular dysplasia in patients with hypermobile Ehlers-Danlos Syndrome (hEDS) and hypermobility spectrum disorders (HSD) who presented to an academic headache clinic. Methods: This is a retrospective cohort study. We used an electronic medical record to look for all patients seen at the Mayo Clinic Florida Headache Center and EDS Clinic between 2019 and 2025 with a diagnosis of hEDS or HSD and neuroimaging of both the intracranial and cervical arteries. Results: There were 103 patients who met the inclusion criteria. There was no statistically significant difference between hEDS and HSD patients in developing cerebral/cervical arterial anomalies. Of the sample, 95% of the hypermobile patients with abnormal neuroimaging also had migraine. A total of eleven (10.7%) patients (hEDS + HSD) were diagnosed with unruptured intracranial aneurysms. Trends included age less than 50 years, small aneurysms in the anterior circulation, and having migraine with aura. Five (4.8%) patients were diagnosed with spontaneous cervical artery dissection with trends for HSD, over the age of 50 years, vertebral artery involvement and a history of migraine without aura. Six (5.8%) patients were diagnosed with fibromuscular dysplasia with trends for HSD, over the age of 50 years, carotid artery involvement and a history of migraine with aura. Conclusions: This is the first study to identify that patients with the more common type of EDS, HSD and hEDS, and a possible concomitant history of migraine have a heightened risk for the development of unruptured intracranial aneurysms, spontaneous cervical artery dissections, and fibromuscular dysplasia. Our findings suggest the need for targeted screening with intracranial and extracranial arterial imaging for this unique patient population.
Shared autonomic phenotype of long COVID and myalgic encephalomyelitis/chronic fatigue syndrome.
Long COVID and myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) are relatively common and disabling multisystem disorders that share overlapping features, including post-infectious onset and similar clinical manifestations such as brain fog, fatigue, muscle pain, and dysautonomia with orthostatic intolerance. These similarities suggest that Long COVID and ME/CFS may share common pathophysiological mechanisms, though the underlying mechanisms remain poorly understood, partly due to the difficulty in quantifying many of the symptoms. This retrospective study evaluated Long COVID and pre-COVID ME/CFS patients who completed autonomic testing between 2018 and 2023 at the Brigham and Women's Faulkner Hospital Autonomic Laboratory. The evaluations included autonomic tests (Valsalva maneuver, deep breathing, tilt-table test, and sudomotor function) with capnography and transcranial Doppler monitoring of cerebral blood flow velocity (CBFv) in the middle cerebral artery, neuropathic assessment through skin biopsies for small fiber neuropathy (SFN), invasive cardiopulmonary exercise testing (ICPET), and laboratory analyses covering metabolic, inflammatory, autoimmune, and hormonal profiles. A total of 143 Long COVID and 170 ME/CFS patients were analyzed and compared to 73 healthy controls and 290 patients with hypermobile Ehlers-Danlos syndrome (hEDS). Tests revealed extensive similarities between Long COVID and ME/CFS, including reduced orthostatic CBFv (92%/88% in Long COVID/ME/CFS), mild-to-moderate widespread autonomic failure (95%/89%), presence of SFN (67%/53%), postural tachycardia syndrome (POTS) (22%/19%), neurogenic orthostatic hypotension (15%/15%) and preload failure (96%/92%, assessed in 25/66 Long COVID/ME/CFS). Patients with hEDS exhibited more severe peripheral neurodegeneration compared to the other groups. Laboratory tests did not distinguish between the conditions. Both Long COVID and ME/CFS demonstrate dysregulation in cerebrovascular blood flow, autonomic reflexes, and small fiber neuropathy, suggesting that these conditions may share a common underlying pathophysiology. However, differing distributions of findings in patients with hEDS raise the question of whether these conditions represent distinct but overlapping syndromes or reflect a shared underlying pathway. Further research is required to clarify the relationship between these conditions and the potential underlying pathophysiological mechanisms.
Sleep-Related Hypoventilation in a Patient With Ehlers-Danlos Syndrome.
Although sleep apnea is frequently observed in patients with hypermobile Ehlers-Danlos syndrome (EDS), hypoventilation is uncommon. We present a case of a patient with hypermobile EDS without sleep apnea who was found to have isolated sleep-related hypoventilation. Hypoventilation is defined by elevated PaCO2. It is exacerbated during sleep when ventilatory control sensitivity is diminished. Hypoventilation is further worsened during rapid eye movement (REM) sleep when accessory respiratory muscles are atonic, and breathing is driven solely by the diaphragm. This report highlights the importance of considering hypoventilation in patients with EDS, especially those with relevant risk factors.
A laboratory micro-CT technique is useful to visualize and characterize dermal skin components in a 3D manner.
Bowel and skin biopsies from patients with gastrointestinal disorders have revealed neuropathic changes and altered connective tissue. Patients with postural orthostatic tachycardia syndrome (POTS) often suffer from gastrointestinal symptoms and concomitant hypermobility spectrum disorders, such as hypermobile Ehlers-Danlos syndrome (hEDS). Since the skin is more accessible than the bowel, the aim of the present study was to evaluate skin biopsies in a 3D manner using micro-CT in patients with POTS and controls and relate the findings to symptoms presented. Healthy controls (n=13) and patients with POTS with (n=11) or without hEDS/EDS (n=26) were evaluated. Skin biopsies were taken proximally to the lateral malleolus using a 3 mm needle, fixed in formaldehyde and embedded in paraffin. The samples were harvested using a 1.5 mm punch (length, 2-5 mm) and scanned using a laboratory X-ray phase-contrast micro-CT. Scans were evaluated in a blinded manner and the regularity, thickness and tightness of collagen fiber bundles were assessed. All dermal structures were visible without staining. Intraepidermal nerves were not visible and a number of cell types could not be separated. The percentage of disorganized collagen bundles differed between groups, due to the majority being disorganized in hEDS/EDS (P=0.030). The proportion of any disorganized and parallel bundles throughout the biopsy differed within both patient groups (P<0.001) but not within the control group (P=0.175). There were no differences in symptoms between participants with disorganized bundles and participants without disorganized bundles. In conclusion, X-ray phase-contrast micro-CT was suitable to visualize and characterize dermal skin components in 3D. Patients with POTS and hEDS/EDS exhibited more disorganized collagen bundles; however, the technique cannot currently be used for diagnostic purposes until more patients are examined.
Publicações recentes
Females with hypermobile Ehlers-Danlos syndrome self-report more sexual problems than chronic pain controls without hypermobility, males, or patients with hypermobile spectrum disorders.
Tourniquet Use and Anesthesiology Considerations in Patients With Hypermobile Ehlers-Danlos Syndrome: Balancing Orthopedic Needs With Anesthetic Safety.
2-Chloroprocaine vs. Lidocaine in a Patient With Hypermobile Ehlers-Danlos Syndrome and a History of Local Anesthetic Resistance: A Case Report.
Multimodal Wearable and Survey Data Reveal Distinct Physiologic Profiles in Hypermobile-Ehlers Danlos Syndrome for Screening Advancements.
🥈 ObservacionalThe lived experience of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders in the United Kingdom: findings from a national cross-sectional survey.
📖 Revisão📚 EuropePMC251 artigos no totalmostrando 200
Sleep-Related Hypoventilation in a Patient With Ehlers-Danlos Syndrome.
CureusA laboratory micro-CT technique is useful to visualize and characterize dermal skin components in a 3D manner.
Experimental and therapeutic medicineChildren and adolescents with disorders of gut-brain interaction with comorbid hypermobility and orthostatic intolerance have worse outcomes.
Journal of pediatric gastroenterology and nutritionImpaired attention and cognitive deficits associated with pain and autonomic symptoms in hypermobile Ehlers-Danlos syndrome: a pilot study.
Clinical autonomic research : official journal of the Clinical Autonomic Research SocietyEfficacy of Lidocaine Infusion in the Management of Chronic Myofascial Pain and Intractable Migrainous Headache in a Patient With Hypermobile Ehlers-Danlos Syndrome: A Case Report.
CureusProximity extension assay-based serum proteomic profiling identifies shared protein signatures in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.
Clinical proteomicsIn-Vivo Force-Length Relationship of the Medial Gastrocnemius Muscle in Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders.
Journal of musculoskeletal & neuronal interactionsMulti-System Genetic Architecture of Hypermobile Ehlers-Danlos Syndrome: Integrating Machine Learning with Subject-Level Genomic Analysis.
GenesPrevalence of Intracranial and Cervical Artery Abnormalities in Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Presenting to an Academic Headache Clinic.
Neurology internationalAn Online Pilates Program for People with Hypermobility: A Pragmatic Clinical Trial Looking at Function, Interoception, Kinesiophobia, and Physical Activity Levels.
Journal of multidisciplinary healthcareHealth experiences and outcomes of autistic and non-autistic adults with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder.
BMC medicineSex differences in self-reported symptoms and comorbidities associated with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A retrospective study.
Research squareSafety and Impacts of Physical Activity for Individuals Living With Hypermobility Spectrum Disorders and Hypermobile Ehlers-Danlos Syndrome: Protocol for a Scoping Review.
JMIR research protocolsThe role of perceived social support for outcomes for the long-term health condition hypermobile Ehlers-Danlos syndrome.
Journal of health psychologyIntercostal nerve radiofrequency ablation for slipping rib syndrome: a case report.
Pain managementReasons for Participating in the EDS-HEART Program: Holistic and Performative Within a Supportive Community.
International journal of environmental research and public healthHealth-Related Quality of Life in Midlife and Older Women With Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders.
Nursing for women's healthShared autonomic phenotype of long COVID and myalgic encephalomyelitis/chronic fatigue syndrome.
PloS oneAssociation between Ehlers-Danlos syndrome and mast cell activation syndrome: Is there scientific evidence?
Revista clinica espanolaJoint hypermobility syndrome for the urogynaecologist - A narrative review.
European journal of obstetrics, gynecology, and reproductive biologyOutcomes and experiences of patients with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders undergoing surgical interventions: a scoping review.
Rheumatology internationalNutrient intake, dietary patterns and relationship to symptoms and comorbidities in hypermobile Ehlers-Danlos syndrome.
Clinical nutrition (Edinburgh, Scotland)A Caregiver's Perspective: Identifying "Zebras"-Listening to Patients is a Clinical Necessity.
Journal of patient experiencePerceived quality of life, fatigue and the metabolic cost of walking in generalized hypermobility spectrum disorder and hypermobile Ehlers-Danlos syndrome.
Frontiers in rehabilitation sciencesDistressing Bleeding Symptoms in Interviews of Patients With Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder.
Haemophilia : the official journal of the World Federation of HemophiliaCompression garments in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective cohort study.
BMC musculoskeletal disordersUnderstanding Comorbidities in Hypermobile Ehlers-Danlos Syndrome: Could a Viral Infection Lead to a Diagnosis?
medRxiv : the preprint server for health sciencesTo what extent do the muscles and tendons influence metabolic cost and exercise tolerance in the hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders?
Clinical biomechanics (Bristol, Avon)Comparative assessment of left common iliac vein compression in patients with hypermobile Ehlers-Danlos syndrome, hypermobility spectrum disorder and healthy controls - A retrospective single-centre study.
PhlebologyHypothesis paper: high prevalence of Tinel sign in hypermobile Ehlers-Danlos syndrome.
Frontiers in neurologyTreatment Modalities, Pain Response, and Referrals for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: A Retrospective Study.
Mayo Clinic proceedings. Innovations, quality & outcomesConnective tissue changes in Ehlers-Danlos syndromes with and without axial spondyloarthropathy.
Journal of ultrasoundJoint Hypermobility: An Under-Recognised Cause of Palpitations, Dizziness, and Syncope in Young Females.
Journal of clinical medicineHypermobile Ehlers-Danlos Syndrome With Prominent Gastrointestinal and Autonomic Involvement in a Latin American Patient: A Case Report.
CureusAutonomic symptom burden, comorbidities and quality of life in women with Hypermobility Spectrum Disorders and hypermobile Ehlers-Danlos syndrome.
Autonomic neuroscience : basic & clinicalOutcomes of revisional bariatric surgery in patient with hypermobile Ehlers-Danlos syndrome.
Journal of surgical case reportsExploring the Association Between Median Arcuate Ligament Syndrome and Hypermobile Ehlers-Danlos Syndrome: A Case Report.
CureusAnti-Nuclear Antibody (ANA) Positivity and Nuclear Antigen Reactivity in Patients with Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome (JHS/hEDS).
BiomedicinesComplex Genetics and Regulatory Drivers of Hypermobile Ehlers-Danlos Syndrome: Insights from Genome-Wide Association Study Meta-analysis.
medRxiv : the preprint server for health sciencesPrevalence of Hypermobile Ehlers-Danlos Syndrome in Transgender and Gender Diverse Individuals: A Retrospective Cohort Study.
LGBT healthImprovement in Upper Limb and Systemic Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Symptoms After Surgical Treatment of Neurogenic Thoracic Outlet Syndrome.
CureusProteomic discoveries in hypermobile Ehlers-Danlos syndrome reveal insights into disease pathophysiology.
ImmunoHorizonsKLK15 alters connective tissues in hypermobile Ehlers-Danlos syndrome.
iScienceDefining the Chronic Complexities of hEDS and HSD: A Global Survey of Diagnostic Challenges, Life-Long Comorbidities, and Unmet Needs.
Journal of clinical medicineLocalized and historical hypermobile spectrum disorders share self-reported symptoms and comorbidities with hEDS and HSD.
Frontiers in medicineHypermobile Ehlers-Danlos Syndrome: Cerebrovascular, Autonomic and Neuropathic Features.
American journal of medicine openA Case of Complex Regional Pain Syndrome With Hypermobile Ehlers-Danlos Syndrome and Mast Cell Activation Syndrome: The Role of Unconventional Therapies.
CureusRisk factors of patellofemoral instability in patients with hypermobile Ehlers-Danlos syndrome.
Archives of orthopaedic and trauma surgeryNon-Traumatic Arytenoid Subluxation in a Patient With Hypermobile Ehlers-Danlos Syndrome.
The LaryngoscopeAssociation Between Orthostatic Intolerance Symptoms and Cognitive Complaints in Hypermobile Ehlers-Danlos Syndrome (hEDS) and Joint Hypermobility Spectrum Disorder (JHSD): A Cross-Sectional Analysis.
CureusAbdominal Compression Syndromes in the Hypermobile Ehlers-Danlos Syndrome.
American journal of medical genetics. Part AOrthopaedic Manifestations in Hypermobile Ehlers-Danlos Syndrome.
The Journal of bone and joint surgery. American volumeExploring physical activity patterns in adolescents with hypermobility spectrum disorder or hypermobile Ehlers-Danlos Syndrome.
Pediatric rheumatology online journalUser-Driven Development of a Digital Behavioral Intervention for Chronic Pain: Multimethod Multiphase Study.
JMIR formative researchWalking and running in people who are hypermobile: A scoping review.
Gait & postureA qualitative investigation of Ehlers-Danlos syndrome genetics triage.
Journal of genetic counselingPain and physical function affecting quality of life in patients with osteogenesis imperfecta, X-linked hypophosphatemia, and hypermobile Ehlers-Danlos syndrome.
JBMR plusFascial Pathophysiology in Hypermobility Spectrum Disorders and Hypermobile Ehlers-Danlos Syndrome: A Review of Emerging Evidence.
International journal of molecular sciencesUnderstanding the issues of hypermobility spectrum disorders and hypermobile Ehlers-Danlos syndrome in primary care: a qualitative integrative review.
Disability and rehabilitationPain intensity in anatomical regions in relation to psychological factors in hypermobile Ehlers-Danlos syndrome.
Scandinavian journal of painAutonomic and sensory dysfunction in hypermobile Ehlers-Danlos syndrome: How do small fibers contribute?
Autonomic neuroscience : basic & clinicalNeuropsychological Function and the Relationship Between Subjective Cognition, Objective Cognition, and Symptoms in Hypermobile Ehlers-Danlos Syndrome.
Brain and behaviorHypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing.
GenesAGA Clinical Practice Update on GI Manifestations and Autonomic or Immune Dysfunction in Hypermobile Ehlers-Danlos Syndrome: Expert Review.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological AssociationAssociation of postural orthostatic tachycardia syndrome, hypermobility spectrum disorders, and mast cell activation syndrome in young patients; prevalence, overlap and response to therapy depends on the definition.
Frontiers in neurologyLetter: Is Enteric Neuropathy Absent in Hypermobility Spectrum Disorders/Hypermobile Ehlers-Danlos Syndrome?
Alimentary pharmacology & therapeuticsA qualitative study exploring participants' feelings about an online pilates program designed for people with hypermobility disorders.
Journal of bodywork and movement therapiesSelf-reported Demographics of 154 Hypermobile Ehlers-Danlos Syndrome Patients.
American journal of physical medicine & rehabilitationHOPE for Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorder (HSD)-A Pilot Randomised Controlled Trial of Feasibility, Acceptability and Appropriateness.
European journal of pain (London, England)Depressive symptoms are highly prevalent and associated with fatigue and pain catastrophizing in the Hypermobility Spectrum Disorders and hypermobile Ehlers Danlos syndrome: a cross-sectional study.
Rheumatology internationalThe Complexities of Navigating the Healthcare System as an Autistic Individual with Ehlers-Danlos Syndrome: A Patient Perspective.
Journal of patient experienceThe Contradictions in the Criteria for Diagnosing Hypermobile Ehlers-Danlos Syndrome as Reflecting Some of the Philosophical Debates about the Threshold between the Normal and the Pathological.
The Journal of medicine and philosophyInsomnia due to a dislocation storm in hypermobile Ehlers-Danlos syndrome with small fibre neuropathy and recurrent syncope.
European journal of translational myologySymptomatic joint hypermobility is not a barrier to attendance, graduation, or satisfaction for adults participating in a multidisciplinary pain rehabilitation program.
Frontiers in pain research (Lausanne, Switzerland)Sexual dysfunction in women with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: an online community-based study.
Rheumatology advances in practiceHow Do Patients with Hypermobile Ehlers-Danlos Syndrome Cope with This Medical Condition? An Analysis of Autobiographical Narratives in Relation to Pain Perception and Affect Regulation Capabilities.
Healthcare (Basel, Switzerland)Prevalence of psychiatric and sleep disorders and their impact on quality of life in children with hypermobile Ehlers-Danlos syndrome: an observational study.
Rheumatology internationalUK Medical Cannabis Registry: An Analysis of Outcomes of Medical Cannabis Therapy for Hypermobility-Associated Chronic Pain.
ACR open rheumatologyHypothesis: Young infant bone strength is a multifactorial trait.
MedicineRadiographic Identification of Visceroptosis in Patients With Hypermobile Ehlers-Danlos Syndrome With Functional Gastrointestinal Symptoms Compared With Healthy Subjects.
Clinical and translational gastroenterologyThe Relationship Between Fatigue, Pain Interference, Pain-Related Distress, and Avoidance in Pediatric Hypermobile Ehlers-Danlos Syndrome.
Children (Basel, Switzerland)Suspected Mitochondrial Dysfunction and Complex Pathophysiology in Fatal Hypermobile Ehlers-Danlos Syndrome: Insights from a Case Report and Post-Mortem Findings.
BiomedicinesMitochondrial Dysfunction and Its Potential Molecular Interplay in Hypermobile Ehlers-Danlos Syndrome: A Scoping Review Bridging Cellular Energetics and Genetic Pathways.
Current issues in molecular biologyAn evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes.
Genetics in medicine openHead Posture and Upper Spine Morphological Deviations in Patients With Hypermobile Ehlers-Danlos Syndrome.
Orthodontics & craniofacial researchA case of massive hematoma: reflections on hypermobile Ehlers-Danlos syndrome.
Frontiers in medicineNavigating HOPE (Hypermobile Online Pain managemEnt): Perspectives and Experiences From People With Hypermobile Ehlers-Danlos Syndrome or Hypermobility Spectrum Disorder on a Condition-Specific Online Pain Management Programme.
Health expectations : an international journal of public participation in health care and health policyProfiling hypermobile Ehlers-Danlos syndrome (hEDS): factors in health and wellbeing with chronic conditions and opportunities for improving self-management.
Disability and rehabilitationThe Spider; A Multisystemic Symptom Impact Tool for People with Hypermobility-Related Disorders. Initial Validation in Adolescents.
Journal of pediatrics. Clinical practiceBone Densitometry Parameters in Females with Ehlers-Danlos Syndrome-Does the Hypermobile Subtype Increase the Risk of Low Bone Mass in Patients with Ehlers-Danlos Syndrome?
Journal of clinical medicineComorbidities and neurosurgical interventions in a cohort with connective tissue disorders.
Frontiers in neurologyManagement of Maternal Genetic Conditions in Pregnancy, Part 1: Disorders of the Connective Tissue, Muscle, Vascular, and Skeletal Systems.
Obstetrical & gynecological surveyTracking changes in autonomic function by coupled analysis of wavelet-based dispersion of heart rate variability and gastrointestinal symptom severity in individuals with hypermobile Ehlers-Danlos syndrome.
Frontiers in neurologyThe prevalence of hypermobile Ehlers-Danlos syndrome at a gender-affirming primary care clinic.
SAGE open medicineHypermobile type Ehlers-Danlos syndrome and generalized hypermobile spectrum disorder treatment preferences - a cross-sectional survey of patients.
Rheumatology internationalHypermobility Syndromes and Their Impact on Gastrointestinal Illnesses: A Review for Gastroenterologists.
The American journal of gastroenterologyThe First Patient with Tinea Manuum because of Trichophyton erinacei Isolated in Malta.
SkinmedAnalysis of Antroduodenal Motility in Patients With Hypermobility Spectrum Disorders/Hypermobile Ehlers-Danlos Syndrome.
Alimentary pharmacology & therapeuticsSimilarities and differences in self-reported symptoms and comorbidities between hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.
Rheumatology advances in practiceShprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature.
European journal of medical geneticsPresentation and physical therapy management using a neuroplasticity approach for patients with hypermobility-related upper cervical instability: a brief report.
Frontiers in neurologyRecurrent adnexal torsion in a teenager with hypermobile Ehlers-Danlos syndrome: A case report.
Case reports in women's healthHypermobile Ehlers Danlos for the Primary Care Provider.
Missouri medicineA machine learning approach to stratify patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders according to disorders of gut brain interaction, comorbidities and quality of life.
Neurogastroenterology and motilityHippotherapy in the management of hypermobile Ehlers-Danlos syndrome.
BMJ case reportsOverlapping conditions in Long COVID at a multisite academic center.
Frontiers in neurologyExploring signs of central sensitization in adolescents with hypermobility Spectrum disorder or hypermobile Ehlers-Danlos syndrome.
European journal of pain (London, England)Prevalence of Autoantibodies in Patients with Hereditary Alpha-Tryptasemia.
International archives of allergy and immunologyHypoglycemia Associated With Hypermobile Ehlers-Danlos Syndrome.
JCEM case reportsCesarean Delivery in a Patient With Hypermobile Ehlers-Danlos Syndrome: A Case Report.
CureusThe prevalence of multisystem diagnoses among young patients with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder: A retrospective analysis using a large healthcare claims database.
MedicineDecoding the Genetic Basis of Mast Cell Hypersensitivity and Infection Risk in Hypermobile Ehlers-Danlos Syndrome.
Current issues in molecular biologyCardiovascular, autonomic symptoms and quality of life in children with hypermobile Ehlers-Danlos syndrome.
SAGE open medicineDefining a core outcome set for hypermobility spectrum disorders and hypermobile Ehlers-Danlos syndrome: A Delphi consensus study.
Clinical rheumatologyThe Effectiveness of Conservative Interventions on Pain, Function, and Quality of Life in Adults with Hypermobile Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorders and Shoulder Symptoms: A Systematic Review.
Archives of rehabilitation research and clinical translationOral health-related quality of life among women with temporomandibular disorders and hypermobile Ehlers-Danlos syndrome or hypermobility spectrum disorder.
Journal of the American Dental Association (1939)Assessing the Utility of a Patient-Facing Diagnostic Tool Among Individuals With Hypermobile Ehlers-Danlos Syndrome: Focus Group Study.
JMIR formative researchLow vitamin C status and hypermobility-related disorders in patients with bleeding disorder of unknown cause.
Haemophilia : the official journal of the World Federation of HemophiliaLong COVID and hypermobility spectrum disorders have shared pathophysiology.
Frontiers in neurologyBridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker.
American journal of medical genetics. Part APediatric Outcomes After Robotic Median Arcuate Ligament Release, Celiac Ganglionectomy, and Lymphadenectomy.
Journal of pediatric surgeryEvidence for central sensitization as classified by the central sensitization inventory in patients with pain and hypermobility.
Pain practice : the official journal of World Institute of PainLongitudinal echocardiography in pediatric patients with hypermobile Ehlers-Danlos syndrome.
American journal of medical genetics. Part ACo-occurrence of tethered cord syndrome and cervical spine instability in hypermobile Ehlers-Danlos syndrome.
Frontiers in neurologyHypermobile Ehlers-Danlos syndrome and spontaneous CSF leaks: the connective tissue conundrum.
Frontiers in neurologyThe Spider: a visual, multisystemic symptom impact questionnaire for people with hypermobility-related disorders-validation in adults.
Clinical rheumatologyDextrose Prolotherapy for the Treatment of Chronic Shoulder Pain in Patients With Joint Hypermobility: A Case Series.
Clinical medicine insights. Arthritis and musculoskeletal disordersMultisystem Involvement in a Pediatric Patient With Hypermobile Ehlers-Danlos Syndrome: A Case Report of the Diagnostic Complexity and Management Challenges.
CureusChronic Pain and Joint Hypermobility: A Brief Diagnostic Review for Clinicians and the Potential Application of Infrared Thermography in Screening Hypermobile Inflamed Joints.
The Yale journal of biology and medicineVariants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome.
Research squareEsophageal Striae as a Possible Gastrointestinal Manifestation of Hypermobile Ehlers-Danlos Syndrome.
ACG case reports journalSocial media use by patients with hypermobile Ehlers-Danlos syndrome.
Molecular genetics & genomic medicineEvaluating the effects of two different kinesiology taping techniques on shoulder range of motion and proprioception in patients with hypermobile Ehlers-Danlos syndrome: a randomized controlled trial.
Frontiers in rehabilitation sciencesPsychometric properties of the Mini-Balance Evaluation Systems Test and physical function measures in patients with Ehlers-Danlos syndrome/hypermobility spectrum disorders.
Disability and rehabilitationPhenotypic Clusters and Multimorbidity in Hypermobile Ehlers-Danlos Syndrome.
Mayo Clinic proceedings. Innovations, quality & outcomesAirway Complications in a Patient With Ehlers-Danlos Syndrome: A Case Report.
AANA journalManagement of childbearing with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A scoping review and expert co-creation of evidence-based clinical guidelines.
PloS oneHigh prevalence of gastrointestinal disorders in a large cohort of patients with joint hypermobility.
Journal of pediatric gastroenterology and nutritionAn online pain management program for people with hypermobile Ehlers-Danlos Syndrome or hypermobility spectrum disorder: a three-staged development process.
Disability and rehabilitationRisk factors associated with symptoms of temporomandibular disorders among women with hypermobile Ehlers-Danlos syndrome: Questionnaire-based study in Finland and Sweden.
Journal of oral rehabilitationImpairment of lung volume perception and breathing control in hypermobile Ehlers-Danlos syndrome.
Scientific reportsCardiac defects of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective cohort study.
Frontiers in cardiovascular medicinePatient experiences of receiving a diagnosis of hypermobile Ehlers-Danlos syndrome.
American journal of medical genetics. Part ADo people with ME/CFS and joint hypermobility represent a disease subgroup? An analysis using registry data.
Frontiers in neurologyGeneralized Joint Hypermobility: A Statistical Analysis Identifies Non-Axial Involvement in Most Cases.
Children (Basel, Switzerland)Effective Doses of Low-Dose Naltrexone for Chronic Pain - An Observational Study.
Journal of pain researchPrevalence of MTHFR Polymorphisms in Patients With Hypermobile Ehlers-Danlos Syndrome and Hypermobile Spectrum Disorders in a US Hypermobility Clinic.
ACR open rheumatologyWeb-based survey investigating cardiovascular complications in hypermobile Ehlers-Danlos syndrome after COVID-19 infection and vaccination.
PloS oneBeyond Confirmed Mast Cell Activation Syndrome: Approaching Patients With Dysautonomia and Related Conditions.
The journal of allergy and clinical immunology. In practiceA Possible Newly Defined and Treatable Secondary Cause of Early Morning Wake-Up Headaches in an Older Hypermobile Woman: Nutcracker Physiology with Spinal Epidural Venous Congestion.
Case reports in neurologyAssessment of gait mechanics and muscle strength in hypermobile Ehlers Danlos Syndrome.
Clinical biomechanics (Bristol, Avon)Functional neurological signs in hypermobile Ehlers-Danlos syndrome and hypermobile spectrum disorders with suspected neuropathic pain.
Brain and behaviorMast cell activation and nutritional disorders in patients with hypermobility.
Current opinion in gastroenterologyThe association of pain with gait spatiotemporal parameters in children with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder.
Gait & postureMismatch between subjective and objective dysautonomia.
Scientific reportsCardiovascular Symptoms, Dysautonomia, and Quality of Life in Adult and Pediatric Patients with Hypermobile Ehlers-Danlos Syndrome: A Brief Review.
Current cardiology reviewsTwenty-Three-Year-Old Patient With Chronic Pain and Fainting Spells-A Clinical Vignette.
American journal of physical medicine & rehabilitationSystemic pain relief after omalizumab injection in patient with hypermobile Ehlers-Danlos syndrome: A case report.
Clinical case reportsPostural orthostatic tachycardia syndrome after COVID-19 vaccination.
Heart rhythmLong COVID and the diagnosis of underlying hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.
PM & R : the journal of injury, function, and rehabilitationPhysician- and patient-reported dermatologic comorbidities of hypermobile Ehlers-Danlos syndrome.
Journal of the American Academy of DermatologyNeuropsychiatric Manifestations of Mast Cell Activation Syndrome and Response to Mast-Cell-Directed Treatment: A Case Series.
Journal of personalized medicineAsymptomatic Infant Rib Fractures Are Primarily Non-abuse-Related and Should Not Be Used to Assess Physical Child Abuse.
Children (Basel, Switzerland)Effects of hypermobile Ehlers-Danlos syndrome patients on the workflow and professional satisfaction of genetic counselors.
Journal of genetic counselingEffects of multidisciplinary rehabilitation in a patient with Ehlers-Danlos and Behçet's syndromes: a paradigmatic case report according to the narrative medicine.
Disability and rehabilitationMicrovascular status and skin thickness in adults with hypermobile Ehlers-Danlos syndrome: a pilot investigation.
Clinical and experimental rheumatologyBreast surgery in patients with hypermobile Ehlers-Danlos syndrome.
Journal of plastic, reconstructive & aesthetic surgery : JPRASComprehensive Assessment of Nutrition and Dietary Influences in Hypermobile Ehlers-Danlos Syndrome-A Cross-Sectional Study.
The American journal of gastroenterologyChildbearing with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: A Large International Survey of Outcomes and Complications.
International journal of environmental research and public healthCo-Created Solutions for Perinatal Professionals and Childbearing Needs for People with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders.
International journal of environmental research and public healthA narrative review of the literature on illness uncertainty in hypermobile ehlers-danlos syndrome: implications for research and clinical practice.
Pediatric rheumatology online journalFear avoidance, fear of falling, and pain disability in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.
Disability and rehabilitationGenetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
Journal of medical geneticsLooking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center.
American journal of medical genetics. Part AExploring Comorbidities in Adolescent and Young Adults with Hypermobile Ehlers-Danlos Syndrome with and without a Surgical History: A Preliminary Investigation.
Children (Basel, Switzerland)Complex Presentations, Identification and Treatment of Mast Cell Activation Syndrome and Associated Conditions: A Case Report.
Integrative medicine (Encinitas, Calif.)Prevalence and quality of temporomandibular disorders, chronic pain and psychological distress in patients with classical and hypermobile Ehlers-Danlos syndrome: an exploratory study.
Orphanet journal of rare diseasesNarrative Review of Postural Orthostatic Tachycardia Syndrome: Associated Conditions and Management Strategies.
US cardiologyMast Cell Involvement in the Pathogenesis of Selected Musculoskeletal Diseases.
Life (Basel, Switzerland)Laryngological Complaint Prevalence in Hypermobile Ehlers-Danlos or Hypermobility Spectrum Disorders.
The LaryngoscopeThe Language of Pain in the Hypermobile Ehlers-Danlos Syndrome: Metaphors as a Key to Understanding the Experience of Pain and as a Rehabilitation Tool.
Brain sciencesClinician-associated traumatization from difficult medical encounters: Results from a qualitative interview study on the Ehlers-Danlos Syndromes.
SSM. Qualitative research in healthOverall comorbidities in functional neurological disorder: A narrative review.
L'EncephaleMultiple Sustainable Benefits of a Rehabilitation Program in Therapeutic Management of Hypermobile Ehlers-Danlos Syndrome: A Prospective and Controlled Study at Short- and Medium-Term.
Archives of physical medicine and rehabilitationA novel method of assessing balance and postural sway in patients with hypermobile Ehlers-Danlos syndrome.
Frontiers in medicineClinical characteristics of patients with hypermobile type Ehlers-Danlos syndrome (hEDS) and generalized hypermobility spectrum disorders (G-HSD): an online survey.
Rheumatology internationalCentral sensitization in adolescents with hypermobility spectrum disorder or hypermobile Ehlers-Danlos syndrome-a feasibility study.
Pilot and feasibility studiesClinical trajectory of hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders in older adults.
Journal of the American Association of Nurse PractitionersValidation of the neuroconnective endophenotype questionnaire (NEQ): a new clinical tool for medicine and psychiatry resulting from the contribution of Ehlers-Danlos syndrome.
Frontiers in medicinePhysical therapy interventions in generalized hypermobility spectrum disorder and hypermobile Ehlers-Danlos syndrome: a scoping review.
Disability and rehabilitationAssessment of functional respiratory complaints and related factors in people with hypermobile Ehlers-Danlos syndrome: Cross-sectional study.
Respiratory medicine and researchEffects of compression garments on balance in hypermobile Ehlers-Danlos syndrome: a randomized controlled trial.
Disability and rehabilitationSomatic symptoms, pain, catastrophizing and the association with disability among children with heritable connective tissue disorders.
American journal of medical genetics. Part AHigh overlap in patients diagnosed with hypermobile Ehlers-Danlos syndrome or hypermobile spectrum disorders with fibromyalgia and 40 self-reported symptoms and comorbidities.
Frontiers in medicinePediatric joint hypermobility: a diagnostic framework and narrative review.
Orphanet journal of rare diseasesComorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome.
Genetics in medicine openPatients' strategies for numeric pain assessment: a qualitative interview study of individuals with hypermobile Ehlers-Danlos Syndrome.
Disability and rehabilitationLow prevalence of positive hydrogen breath tests in patients with functional gastrointestinal conditions and hypermobile Ehlers-Danlos syndrome.
Neurogastroenterology and motilityHabituation deficit of visual evoked potentials in migraine patients with hypermobile Ehlers-Danlos syndrome.
Frontiers in neurologyEvaluation and Management of Dyspnea in Hypermobile Ehlers-Danlos Syndrome and Generalized Hypermobility Spectrum Disorder: Protocol for a Pilot and Feasibility Randomized Controlled Trial.
JMIR research protocolsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Children and adolescents with disorders of gut-brain interaction with comorbid hypermobility and orthostatic intolerance have worse outcomes.
- Prevalence of Intracranial and Cervical Artery Abnormalities in Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Presenting to an Academic Headache Clinic.
- Shared autonomic phenotype of long COVID and myalgic encephalomyelitis/chronic fatigue syndrome.
- Sleep-Related Hypoventilation in a Patient With Ehlers-Danlos Syndrome.
- A laboratory micro-CT technique is useful to visualize and characterize dermal skin components in a 3D manner.
- Females with hypermobile Ehlers-Danlos syndrome self-report more sexual problems than chronic pain controls without hypermobility, males, or patients with hypermobile spectrum disorders.
- Tourniquet Use and Anesthesiology Considerations in Patients With Hypermobile Ehlers-Danlos Syndrome: Balancing Orthopedic Needs With Anesthetic Safety.
- 2-Chloroprocaine vs. Lidocaine in a Patient With Hypermobile Ehlers-Danlos Syndrome and a History of Local Anesthetic Resistance: A Case Report.
- Multimodal Wearable and Survey Data Reveal Distinct Physiologic Profiles in Hypermobile-Ehlers Danlos Syndrome for Screening Advancements.
- The lived experience of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders in the United Kingdom: findings from a national cross-sectional survey.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:285(Orphanet)
- OMIM OMIM:130020(OMIM)
- MONDO:0007523(MONDO)
- GARD:2081(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q3508607(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
