ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 24 citations in OpenAlex.
- Connective tissue and genetics in the pathogenesis of rectal prolapse: A scoping review.Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland · 2026Article
- Insights into TNXB-Related Classical-Like Ehlers-Danlos Syndrome: A Study of Polish Patients.Open access rheumatology : research and reviews · 2026Article
- Perforation of the Sigmoid Colon due to Diverticular Rupture in a Woman WithClinical case reports · 2025Article
- Tenascin-X Deficiency Causing Classical-Like Ehlers-Danlos Syndrome Type 1 in Humans is a Significant Risk Factor of Gastrointestinal and Tracheal Ruptures.Clinical and translational gastroenterology · 2025Article
- Genetic diagnosis of the Ehlers-Danlos syndromes.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- Clinical diagnosis of the monogenic Ehlers-Danlos syndromes.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- An exemplary model of genetic counselling for highly specialised services.Journal of community genetics · 2023Review
- Article
- The role of cutaneous manifestations in the diagnosis of the Ehlers-Danlos syndromes.Skin health and disease · 2023Review
- Clinical and molecular delineation of classical-like Ehlers-Danlos syndrome through a comprehensive next-generation sequencing-based screening system.Frontiers in genetics · 2023Article
- Tenascin-X as a causal gene for classical-like Ehlers-Danlos syndrome.Frontiers in genetics · 2023Review
- Recurrent pneumothorax in a case of tenascin-X deficient Ehlers-Danlos syndrome: Broadening the phenotypic spectrum.American journal of medical genetics. Part A · 2022Article
- Ehlers-Danlos Syndrome in the Field of Psychiatry: A Review.Frontiers in psychiatry · 2021Review
- Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders.Advances in experimental medicine and biology · 2021Article
- Animal Models of Ehlers-Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential.Frontiers in genetics · 2021Review
- The Roles of Tenascins in Cardiovascular, Inflammatory, and Heritable Connective Tissue Diseases.Frontiers in immunology · 2020Review
Corrections and comments
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Authors and funding
19 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCurrently, 31 patients with classical-like EDS (clEDS) due to tenascin-X deficiency have been reported in the literature. We report on the clinical and molecular characteristics of 20 additional patients with clEDS to expand knowledge and to enable improved management of this rare genetic disorder.
methodsPatients diagnosed with clEDS by the national EDS service in the UK (n = 21) and abroad (n = 1) were asked for consent for publication of their clinical and molecular data.
resultsOf 22 patients, 20 consented. All patients had typical features of clEDS: joint hypermobility, easy bruising, and skin hyperextensibility without atrophic scars. Importantly, 3/20 patients experienced gastrointestinal complications consisting of small or large bowel ruptures and one esophageal rupture. Other notable observations included two separate occurrences of spontaneous compartment syndrome, suspicion of nonaccidental injury due to significant bruising, and significant clinical variability regarding the debilitating effect of joint dislocations.
conclusionsWe propose a predisposition to tissue fragility, particularly of the gastrointestinal tract in patients with clEDS. As such, clinical and molecular confirmation of this diagnosis is essential. It is recommended to follow up these patients closely to understand the natural history to develop better recommendations for management.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.