“Rare or Not So Rare, That Is the Question”: Orphan Diseases in Children

Dear colleagues,

More than 6000 rare diseases affect more than 25 million of individuals in the United States of America. A disease that affects less than 200,000 individuals is considered to be a rare disease. The exact prevalence of pediatric rare diseases is still unknown. Rare and orphan diseases include several syndromes, most of them with a genetic etiology. The diagnostic challenges to identify and confirm a rare disease are significant. The complexity of treating and managing a patient with a rare disease may be difficult for the general medical provider without adequate diagnostic tools and specialist referrals. An interdisciplinary approach for rare-disease management is critical to address symptoms and for patients to have access to effective medical treatments. A better understanding of the basic science, medical pathophysiology, and clinical diagnosis for current and future treatments is needed. Additionally, new strategies to involve caretakers in the community to participate in pediatric rare-disease research is important to understand rare etiologies of the disease, decrease medical barriers, improve the access to healthcare and avoid health disparities in this population.

This Special Issue for the MDPI journal Children (ISSN 2227-9067) aims to present:

• Case reports of rare pediatric diseases
• Case series reports demonstrating new observations or trends of a unknown rare pediatric disease
• Family studies of rare pediatric diseases
• Basic scientific studies exploring rare pediatric diseases
• New genotype–pheonotype associations in rare pediatric diseases.
• Translational studies focus on health disparities related to rare diaseases
• COVID-19-related complications in pediatric cases with rare diseases
• Sleep comorbidities in rare pediatric diseases
• Barriers for healthcare access in children with rare diseases

Manuscripts addressing these topics are invited for this Special Issue with the overall aim to increase awareness of pediatrics rare diseases around the world.

Dr. Wilfredo De Jesús Rojas
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the Special Issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.