Orphanet Journal of Rare Diseases
The official journal of Orphanet, the portal for rare diseases and orphan drugs.
Featured series: Diagnosis of rare diseases – strategies and structures
We are pleased to announce a new thematic series, guest edited by Holm Graeßner (University Hospital Tübingen, Germany). This new series will explore the strategies and solutions which have been developed, tested, validated and/or deployed, in order to improve diagnosis of rare disease patients. You can find more information about the scope of the series here.
Featured series: Medical technologies for rare diseases
We are pleased to announce a new thematic series, guest edited by Anneliene Jonker (University of Twente, The Netherlands) and Marc Dooms (University Hospitals Leuven, Belgium).
Orphan devices constitute a very diverse group of products, reflecting the broad field of rare disease. Many orphan devices provide essential functions for patients with rare diseases, their carers, and the healthcare professionals using them. Nevertheless, there are very few medical devices that are specifically developed for rare diseases, while many patients and carers express a substantial unmet need for new medical devices for their conditions. This new series will explore the questions which need to be answered, in order to raise the profile of this field, helping current and future rare disease patients worldwide. Find out more about the scope here.
Featured series: Undiagnosed rare diseases
Our new thematic series, guest edited by David Adams, delves into the challenges and opportunities which exist for patients living with undiagnosed rare diseases. We are looking to publish material which speaks to the importance of a diagnosis, of utilizing individual approaches in treating patients, of functional studies, and the best ways to share information. For more information about the series (including submission info), please click here.
Cushing's Hub – Cushing's Hub e-Learning modules awarded EACCME®accreditation
The Cushing's Hub editorial board is delighted to announce that the European Accreditation Council for Continuing Medical Education (EACCME®) has approved the latest Interactive Clinical Cases for CME accreditation. Each e-Learning Module takes approximately 20 minutes to undertake with successful completion of all three Interactive Clinical Cases leading to the award of one EACCME® credit (or American Medical Association (AMA) equivalent).
The Interactive C linical Cases are fully illustrated, accompanied by a range of multiple-choice questions, and linked to PubMed. Topics include Screening for Cushing's syndrome; The Differential Diagnosis of ACTH-Dependent Cushing's Syndrome; and Severe Hypokalaemia and Excessive Cortisol Secreting Cushing's Disease.
Click here for more information EACCME Accredited Content - Cushing's Hub (cushingshub.com)
PNDS Recommendations
We are proud to present the first of a series of recommendations from the PNDS on rare Autoimmune and Autoinflammatory Disease. This first set is about the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides). Read more here!
Francesc Palau, Sant Joan de Déu Children's Hospital and CIBERER, Spain
Prevalence of depression and anxiety, and their relationship to social support among patients and family caregivers of rare bone diseases
Authors: Xuefeng Lai, Yuling Jiang, Yue Sun, Zhijun Zhang and Shengfeng Wang
Content type: Research 26 January 2023
A survey exploring caregiver burden and health-related quality of life in hereditary transthyretin amyloidosis
Authors: Sarah Acaster, Siu Hing Lo and Sandra Nestler-Parr
Phenylalanine free infant formula in the dietary management of phenylketonuria
Authors: Ozlem Yilmaz, Barbara Cochrane, Jo Wildgoose, Alex Pinto, Sharon Evans, Anne Daly, Catherine Ashmore and Anita MacDonald
A patient advocating for transparent science in rare disease research
Authors: Richard Rui Yang
Content type: Position statement 19 January 2023
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis
Authors: Tiziano Pramparo, Robert D. Steiner, Steve Rodems and Celia Jenkinson
Most recent articles RSS
A review of trisomy X (47,XXX)
Authors: Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson and Lennie Wilson
Content type: Review 11 May 2010
Beta-thalassemia
Authors: Renzo Galanello and Raffaella Origa
Cri du Chat syndrome
Authors: Paola Cerruti Mainardi
Content type: Review 5 September 2006
Authors: Lokesh C Wijesekera and P Nigel Leigh
Content type: Review 3 February 2009
Toxic epidermal necrolysis and Stevens-Johnson syndrome
Authors: Thomas Harr and Lars E French
Content type: Review 16 December 2010
Thematic series
MedTech Innovation & Rare Diseases
Collection published: 18 February 2015
Cross journal collection
Rare Diseases Day 2013
Announcing the launch of In Review
See the full range of benefits of In Review and how to opt-in
Orphanet Journal of Rare Diseases, in partnership with Research Square, is now offering In Review. Authors choosing this free optional service will be able to:
Share their work with fellow researchers to read, comment on, and cite even before publication
Showcase their work to funders and others with a citable DOI while it is still under review
Track their manuscript - including seeing when reviewers are invited, and when reports are received
See what the Orphanet Journal of Rare Diseases In Review platform looks like
In collaboration with Dr. Robert Pignolo and an international faculty of experts, Springer healthcare IME has developed an independent educational program entitled, FOP: Recognition, Treatment and Hope. Highlighting a rare disease that is too often under-diagnosed or misdiagnosed, this free-to-access program aims to raise awareness and highlight the advances being made which have the potential to change the outlook for people with fibrodysplasia ossificans progressiva (FOP). Two resources are CME-accredited, an interactive case-based webcast and eLearning modules, both of which cover important topics within the diagnosis and management of FOP. Also included is the opportunity to test your knowledge through an image-based clinical diagnosis quiz, submit a case to our panel of experts for review, keep up-to-date on the latest news and find the FOP specialist center nearest to your location.
Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports which do not present clinical or pathological findings that can provide information about the mechanisms of a disease. Case reports which just present phenotype information, should not be considered.
About Orphanet
The Orphanet Knowledgebase is an organized and dynamic collection of information and data on rare diseases and orphan drugs. Added-value data from multiple sources are archived, reviewed, manually annotated, and integrated with other data.
Orphanet makes available:
An inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications, cross-referenced with other terminologies.
Annotations with associated genes, phenotypes and epidemiological data.
An encyclopedia of rare diseases in eight languages.
An inventory of orphan drugs at all stages of development, from orphan designation to European market authorization.
A directory of specialized services, providing information on specialized clinics, medical laboratories, ongoing research projects, clinical trials, registries, networks, technological platforms and patient organizations, in the field of rare diseases, in each of the countries in Orphanet's network.
An encyclopedia of recommendations and guidelines for emergency medical care.
A bimonthly newsletter, OrphaNews, which gives an overview of scientific and political current affairs in the field of rare diseases and orphan drugs, in English and French.
A collection of thematic reports, the Orphanet Reports Series, focusing on overarching themes, directly downloadable from the website.
Free access to Orphanet data for research purposes via www.orphadata.org.
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Orphanet Journal of Rare Diseases is the official journal of Orphanet, the portal for rare diseases and orphan drugs.
Annual Journal Metrics
Citation Impact
4.303 - 2-year Impact Factor (2021)
1.784 - Source Normalized Impact per Paper (SNIP)
1.274 - SCImago Journal Rank (SJR)
56 days to first decision for all manuscripts (Median)
63 days to first decision for reviewed manuscripts only (Median)
2,967,555 Downloads (2021)
2851 Altmetric mentions (2021)
More about our metrics
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