The Editors of The Journal of Rare Disorders welcome manuscript submissions following the guidelines set forth below:

The Journal of Rare Disorders considers manuscripts that conform to the established guidelines of the International Committee of Medical Journal Editors (ICMJE), as described in “Uniform Requirements for Manuscripts Submitted to Biomedical Journals: Writing and Editing for Biomedical Publication.” These guidelines are available a

As stated in the ICMJE Uniform Requirements, credit for authorship requires substantial contributions to conception and design, acquisition of data, or analysis and interpretation of data; drafting of the manuscript or critical revision for
important intellectual content; and final approval of the version to be published. 

Financial Disclosure
Authors are required to disclose, in writing, any financial interests (e.g., employment, consultancies, stock ownership or options other than mutual funds, honoraria, expert testimony) in the materials or subject matter dealt with in the

Manuscript Components
All manuscripts should be in English, typed, and double-spaced, with the pages numbered. The title page of the paper should include a concise title of the article; the full name(s) of the author(s), highest academic degree(s) (eg, MD), and professional affiliation; and complete contact information – including mailing address, telephone, fax, and e-mail address – of the corresponding author. 
Footnotes and uncommon abbreviations should be avoided whenever possible. When abbreviations or symbols are used, they should be defined in the text the first
time they appear; any tables and figures should be referred to in the text. Graphics that have been published elsewhere must be accompanied by written consent from the original author and publisher for print and electronic reproduction.

Types of Publications for Submission

Original Research Articles
Should contain the following components:

Structured Abstract
The abstract should be divided into the following sections: 1. Background
Information, 2. Methodology, 3. Results, 4. Conclusions and 5. Key Words.
Length should be less than or equal to 350 words.

This is meant to provide the reader with relevant clinical information on the disease state of interest and review the current understanding of the subject matter to
be presented. When possible, the unmet needs that exist within this therapeutic
area should be included and specifically how this research contributes to increasing the body of knowledge in this field.   

This section should include a detailed description of the study design, relevant
information on study participants, and type of statistical analysis if appropriate. When mentioning drug names, generic names as well as dosage and route of administration should be included. 
For all manuscripts involving human subjects, it should be noted that appropriate
ethical standards were maintained while conducting the research and that consent
was obtained from all study participants.

Results should be presented in tables with accompanying diagrams whenever possible. When applicable, p-values as well as risk reductions should be included. 

This section should provide clinical relevance as to the implications and impact that
the study findings have on management of patients with the condition of interest. Any limitations of the study design or results should also be mentioned.    
This should be a brief statement of the main results and how they answer the original research objective. In addition, the implications this information has for
future areas of research may be mentioned.  

Article length
Less than or equal to 5000 words
Number of references
Less than or equal to 50 references 
Less than or equal to 6 tables, figures, or illustrations

Review Articles
Typically should be based on a comprehensive analysis of currently available literature. Clinical practice guidelines and meta-analyses are also welcome. 

All submissions should include a concise title; an abstract; an introduction that
states the specific purpose of the article; a review of the currently available
literature and understanding of the therapeutic area of interest, and
conclusion. If applicable, a section on methods that identifies the databases
that were searched as well as key words or phrases and inclusion/exclusion
criteria for identified articles; an assessment of the validity of reviewed
studies; and a summary that includes future directions for studies in this area
should be included.

Abstract length
Less than or equal to 350 words
Article length
Less than or equal to 5000 words
Number of references
Less than or equal to 150 references
Less than or equal to 6 tables, figures, or illustrations

Case Reports
Case reports describe observations of new or unusual events (eg, relating to a clinical condition, association, reaction, or treatment) in one or more patients that can advance basic understanding of a medical condition, increase clinical skills, or suggest the usefulness of further research. These reports typically include rare, unexpected associations or events and should include data that describe the salient features of the case. The report should be factual, concise, logically organized, and clearly presented. Consistent with ICMJE guidelines, no identifying information–including patients’ names, initials, or healthcare facility identification numbers – should be published in case studies to protect patient privacy and confidentiality.

The case report should include a concise title, a structured abstract, an introduction, a description of the case, discussion, summary, and any relevant references.
Tables or figures that present data in a readily interpretable form may be included. The introduction should announce the subject and purpose of the report, including statements of why the case is important. The case description should include a narrative account of the case with pertinent clinical,
laboratory, and medication information. Discussion may include evidence that the
case is new or unusual and consider possible alternative explanations for case
features. The summary may include questions for further consideration, request
for input from other experts in the field, and preliminary conclusions of the

Abstract length
Less than or equal to 150 words
Report length
Less than or equal to 1500 words
Less than or equal to 15
Less than or equal to 2 tables, figures, or illustrations
Letters to the Editor
These are opinion pieces of papers published in a previous issue of
The Journal of
Rare Disorders. These letters are meant to provide the author’s interpretation of the mentioned article and authors are encouraged to present a firm case to justify a point of view. All accepted letters will be sent to the author of the original paper for a response.

Article length
Less than or equal to 1000 words
Less than or equal to 10 

The Editorial Board will solicit authors to comment on a specific research article that may or may not be published in the same issue of the journal. These are meant to provide readers with an insightful and thoughtful interpretation of the original published article by providing clinical relevance as well as highlighting any strengths or weaknesses deemed relevant by the author. 

Article length
Less than or equal to 1000 words
Less than or equal to 10

Manuscript Preparation
Any contributions to the research or assistance in manuscript preparation by any person(s) other than the authors must be acknowledged in this section.

The accuracy of all references cited is the responsibility of the author. References should be numbered in the order in which they appear in the text and the full
references listed in the corresponding order at the end of the manuscript. The
listing of references should comply with the format set forth in the
Medical Association Manual of Style: A Guide for Authors and Editors. (see following samples for journal articles, books, and Web sites). Data on file and material that has been “submitted for publication” should not be included in the references.

Reference to a journal article should include the last names and initials of the authors; full title of the article; title of the journal (as per AMA style), italicized; year of publication; volume number; and inclusive pages of the article. 

For example: Pereira MA, Kartashov AI, Ebbeling CB, et al. Fast-food habits,
weight gain, and insulin resistance (the CARDIA study):15-year prospective analysis. Lancet. 2005;365:36–42.

Reference to a book should include the last names and initials of the authors and/or editors; chapter title; book title, italicized; edition number; place of publication; publisher; year of publication; and inclusive pages.

For example: Anderson RM, Funnel MM, Carlson A, et al. Facilitating self-care through empowerment. In: Snoek FJ, Skinner TC, eds.
Psychology in Diabetes Care. West Essex, UK: John Wiley& Sons, Ltd; 2000:69–97.

Reference to a Web site should include its name, article title, Web site address, and date the Web site was accessed.

For  example: World Medical Association. Declaration of Helsinki: Ethical principles
for medical research involving human subjects. Available at: Accessed July 1, 2005.

Guidelines For Submitting Graphics, Tables or Illustrations
All graphics, tables or illustrations must be submitted on disk or electronically and in the appropriate format discussed below. In addition, a hard copy must accompany all electronic files. 
Files can be emailed to:
Hard copy files should be mailed to:
Cindy Jablonowski, Publisher
The Journal of Rare Disorders
33 Brandon Ave.
Monroe Township, N.J.

Acceptable File Formats
Each Table should be prepared in Microsoft Word. If more than
one table is to be submitted,  each should be printed on a separate page. The location of each table should be referred to in the text and numbered in the order of appearance. In addition, a short descriptive title should be included.

Figures should be submitted in jpg, tiff, or eps format; photographs and photocopies
are not usable. Figures submitted in any other format may be redrawn and forwarded for review to authors who will be responsible for the accuracy of the
new illustrations. Use arrows indicating the top of the figures where needed.
Each figure should be referred to in the text and numbered in the order of appearance. If more than one figure is to be submitted, each should be printed
on a separate page.

Submit Manuscripts To
Cindy Jablonowski, Publisher
The Journal of Rare
33 Brandon Ave.
Monroe Township, N.J. 08831