International Journal of Rare Diseases and Disorders is an open access, peer reviewed journal focused to raise awareness of rare diseases among physicians, clinicians and other medical professionals. The journal majorly covers conditions in rare genetic diseases, skin conditions, heart conditions, blood disorders, cancers, pediatric conditions, infectious diseases, and soft tissues.

Journal selectively publishes articles those qualify the thorough peer review process and meet the international standards of scientific publishing. All published articles are made available online as soon they are published without accession barriers. The journal invites original, reviews, cases and other type of articles including but not limited to the areas of allergic and immunologic disorders, benign neoplasms, cancers, cardiac and vascular conditions, endocrine and metabolic disorders, gastroenterologic conditions, hematologic disorders, infectious diseases, musculoskeletal conditions, neurologic conditions, ophthalmologic conditions, pediatric diseases, rheumatologic disorders, skin and soft tissue conditions, etc.

 
Journal Information

Title: International Journal of Rare Diseases & Disorders

ISSN: 2643-4571

Editor-in-chief: Sylvia Lee-Huang

NLM title abbreviation: Int J Rare Dis Disord

ISO abbreviation: Int J Rare Dis Disord

Other titles: IJRDD

Category: Rare Diseases

DOI: 10.23937/2643-4571

Peer review: Double blind

Review speed: 3 weeks

Fast-track review: 10 days

Publication format (s): Electronic and print

Publication policy: Open Access; COPE guide

Publication type(s): Periodicals

Publisher: ClinMed International Library

Country of publication: USA

Language: English

Contact email: contact@clinmedjournals.org

 
Articles Search by   Keyword   |   Journal title   |   Author name   |   DOI

 

 Open Access DOI:10.23937/2643-4571/1710030

A Qualitative Methodology to Support the Evaluation of Novel Treatments for Hyperphagia in People with Prader-Willi Syndrome

Mindy Leffler, MEd, Sonya J Elder, PhD, Siri Bolding, PhD, Megan Hefner, MS, Jennifer L Miller, MD Parisa Salehi, MD, Anthony J Holland, MD, Anish Bhatnagar, MD, Kristen Yen, MS, Patricia C Hirano, MPH and Kristina Davis, PhD

Article Type: Original Article | First Published: June 30, 2021

Assessing change in symptoms affecting people with Prader Willi Syndrome (PWS), a rare disease, is complicated by the influence of different levels of food security procedures and the impact of immediate circumstances on symptom presentation and severity. We report on the use of qualitative interviews to collect information on behavioral change and on the impact of factors specific to individual participants with PWS in a clinical trial. Soleno Therapeutics’ Phase 3 program consists of a doubl...
 

 Open Access DOI:10.23937/2643-4571/1710029

Defining a Growing and Maturing Skeleton and its Relevance in Diseases that Affect Skeletal Growth, Such as X-Linked Hypophosphataemia (XLH)

Signe Beck-Nielsen, Nella Augusta Greggio and Lars Hagenӓs

Article Type: Review Article | First Published: April 17, 2021

The human skeleton is composed of bone, a living tissue that undergoes constant development throughout life. It is well established that changes in bone metabolism during the developmental stages of growth, modelling and remodelling determine long-lasting physiological parameters, such as final height achieved, peak bone mass, bone quality and bone health. A complex interplay of environmental, genetic, nutritional, physiological and behavioural factors plays a role in these processes. These modi...
 

 Open Access DOI:10.23937/2643-4571/1710028

A Biochemical Analysis beyond the Muscle Contraction and its Relation with Isaac Syndrome

Valdemir Aquino de Freitas Neto

Article Type: Review Article | First Published: December 31, 2020

Isaac Syndrome is an autoimmune disease related to the involuntary contraction of skeletal muscles. The author, thus, is going to connect it with the process of muscle contraction through a biochemical study, analysing the pathway from a nervous impulse to the open of voltage-gated Potassium channels and the releasing of Ca2+ on myofibrils. This paper intends to introduce this rare disease and to induce further researches in order to find a cure. The muscle contraction process starts on the Na+/...
 

 Open Access DOI:10.23937/2643-4571/1710027

A Novel Case of Maffucci Syndrome and a Likely High-Grade Lymphoma

Fleming S, Player P, Ladani S, Miall F, Goldney J and Levy MJ

Article Type: Case Report | First Published: November 16, 2020

A 54-year-old male with a history of Maffucci syndrome and Marginal Zone Lymphoma, presented with a 4-week history of headache, right-sidedptosis and diplopia. Whole-body imaging revealed a mass in the pituitary fossa that was likely lymphomatous. Despite diagnostic uncertainty, the mass was treated as transformation of Marginal Zone Lymphoma to a high-grade lymphoma. This report analyses how and why the multi-disciplinary team treated the patient without a biopsy. The case highlights a possible...
 

 Open Access DOI:10.23937/2643-4571/1710025

Distal Arthrogryposis Type Six and Systemic Lupus Erythematosus, in a Girl: First Pediatric Case

Houda Nassih, R El Qadiry, A Bourrahouat, and I Ait Sab

Article Type: Case Report | First Published: November 12, 2020

Arthrogryposis type six is one of the distal arthrogryposes. It associates arthrogryposis of the hands and sensorineural deafness. Male-to-male transmission was observed. No gene has been identified to date. We report a unique case of a girl presenting with congenital arthrogryposis-like hand anomaly, sensorineural deafness, and acute onset of systemic lupus erythematosus (SLE). Arthrogryposis-like hand and deafness syndrome or distal arthrogryposis type 6 (DA6) is characterized by an arthrogryp...
 

 Open Access DOI:10.23937/2643-4571/1710026

A Rare Case of an Ascending Aorta and Aortic Arch Aneurysm with an Aberrant Right Common Carotid Artery and a Proximal Descending Aortic Ectasia

Mikhail M Olalo, MD and Syril Bren P Guillermo, MD, FPCP, FPCC

Article Type: Case Report | First Published: November 12, 2020

Ascending aortic aneurysms are asymptomatic and are usually discovered as an incidental finding on chest imaging. However, larger aneurysms can present with symptoms resulting from compression of surrounding structures including the trachea, bronchi, and the esophagus which can result in hoarseness, cough chest pain or back pain. The presence of an aortic arch anomaly, specifically an aberrant right common carotid artery, in a background of an aortic arch aneurysm is extremely rare with a worldw...
 

 Open Access DOI:10.23937/2643-4571/1710024

Carotid Paragangliomas Related to Form Involving Multiple Systems (Syndromes and Diseases): A Systematic Literature Review

Francisco S Lozano-Sánchez MD, PhD, Angel Muñoz MD, PhD, José A de las Heras MD, PhD, Rogelio González-Sarmiento, MD, PhD and M Begoña García-Cenador MD, PhD

Article Type: Review Article | First Published: November 12, 2020

Carotid paragangliomas are infrequent tumours, generally single, non-functional and benign. Nevertheless, the biology of these tumours occasionally means they are bilateral, multicentric, functional and malignant. Such infrequency and the different ways they manifest themselves pose a diagnostic/ therapeutic challenge that is reflected in the final outcomes. According to the Shamblin classification, 75% of carotid paragangliomas are either Type I (tumour smaller than 4 cm, weakly attached to the...
 

 Open Access DOI:10.23937/2643-4571/1710022

Case Report: Tolosa-Hunt Syndrome Associated with a Chest Mass in a Pediatric Patient

William Im, Marla Sacks, Laura Goodman and Andrei Radulescu

Article Type: Case Report | First Published: October 02, 2020

Tolosa-Hunt Syndrome is a rare disease with an incidence rate of about one in one million per year worldwide. It is caused by granulomatous, nonspecific inflammation of the cavernous sinus, which results in severe headaches, eye pain, and ophthalmoplegia. This is the case of a previously healthy 10-year-old male with a family history significant for Non-Hodgkin’s Lymphoma and Squamous cell carcinoma who presented to the Emergency Department (ED) with an intense recurring headache and ophthalmo...
 

 Open Access DOI:10.23937/2643-4571/1710021

A Rare Case of Raised Alkaline Phosphatase - Polyostotic Fibrous Dysplasia

Dhanuja Senn and Mehdi Mirzazadeh

Article Type: Case Report | First Published: October 02, 2020

Fibrous dysplasia is an uncommon, bone development abnormality characterized by the replacement of normal cancellous bone by fibrous tissue and immature woven bone. Classified according to the number of affected bones, fibrous dysplasia can affect any bones of the skeletal system, with long bones the most commonly documented site of involvement. Typically, diagnosis is based on clinical, radiological and histological findings. However, due to its broad clinical spectrum, it remains a therapeutic...
 

 Open Access DOI:10.23937/2643-4571/1710020

Clinical Characteristics and Prognostic Factors in Patients with Hemophagocytic Syndrome

César Antonio Egües Dubuc, MD, Jaime Calvo-Alen, MD, PhD, Lizbeth Patricia Cabrera-Miranda, MD, Andrea De Diego Sola, MD, José Ramon Furundarena Salsamendi, MD, Nerea Alcorta Lorenzo, MD, Jesús Alejandro Valero Jaimes, MD, Luis María López Dominguez, MD, Jorge Jesús Cancio Fanlo, MD, Olga Maiz Alonso, MD, Esther Uriarte Isacelaya, MD and Joaquín María Belzunegui Otano, MD

Article Type: Original Article | First Published: September 09, 2020

The mortality rate of Hemophagocytic Syndrome (HPS) is 26.5%-74.8%. Malignant neoplasms, hyperferritinemia, thrombocytopenia, older age, hypertriglyceridemia, and prolonged prothrombin are considered to be adverse prognostic factors. This study describes the underlying features of patients survivors and non-survivors with HPS from one hospital between 2005-2019. This is a retrospective study. We included patient with HPS diagnosis based on the HLH-2004 criteria, or who presented hemophagocytic c...
 

 Open Access DOI:10.23937/2643-4571/1710019

COVID -19 Pandemic and Level of Responses in Bangladesh

Md Kariul Islam, MSS, MPH, Md Shukur Ali, PhD, SAM Ziaur Rahman Akanda, MSc, Shahnaz Rahman, BA, AHM Kamruzzaman, MBA, DBA, Sharif Abdul Kader Pavel, MPH and Jannatul Baki, MBA

Article Type: Review Article | First Published: August 24, 2020

Bangladesh is a South East Asian natural beautiful middle income country. Its economy is flourishing rapidly. In the last decade immense development has been noticed in every sphere of life including women empowerment. However, incidence of COVID-19 Pandemic has influenced every sector of Bangladesh badly. The area of Bangladesh is about 1,47,570s km and about 160 million people live here with peace and amity. Naturally, the density of population of this country is very high in comparing to some...
 

 Open Access DOI:10.23937/2643-4571/1710017

A Solution for the Treatment of a Neglected Subset of Rare Diseases

Grant E Fisher

Article Type: Position Statement | First Published: May 07, 2020

Individual HRDs are made up of small patient populations, thus the high individual prices will amount to a relatively small total cost to insurers and the healthcare system overall. Treatments for HRDs will, in almost all cases, represent the first and only available treatments. As the collective price will not be problematic and with treatments being the first available, insurers will have an incentive to cover the prices necessary to develop and commercialize these therapies....
 

 Open Access DOI:10.23937/2643-4571/1710018

Non-biopsy Diagnosis of Hereditary Transthyretin Amyloidosis Presented with Cardiomyopathy and Peripheral Neuropathy in a Chinese Man in Hong Kong

Mei Han Ho, MBBS, MRes (Med), MRCP, Pui Lun Yip, MB, ChB, FHKAM (Med), Cheuk Bong Ho, MBBS, MRCP, Felix Chi Kin Wong, MBBS, MHKC (Path), Sammy Pak Lam Chen, FRCPA, FHKAM (Pathology) and Chi Yuen Wong, FHKCP, FHKAM (Med)

Article Type: Case Report | First Published: May 16, 2020

Amyloidosis is a rare disease characterized by deposition of misfolded amyloid protein, which commonly affects myocardium, nerves, kidneys and various organs. The clinical presentation is highly variable. We herein describe, to our knowledge, the first case of a Chinese man with hereditary transthyretin related cardiac amyloidosis (ATTR) with Ala117Ser mutation in Hong Kong who presented with peripheral neuropathy and congestive heart failure. Echocardiography showed left ventricular hypertrophy...
 

 Open Access DOI:10.23937/2643-4571/1710016

Rare Diseases in Mediaeval Europe

Dooms M

Article Type: Review Article | First Published: March 28, 2020

Monastic rules made an end to infanticide and child neglect in the Middle-Ages by caring for children with (rare) disorders: Disabled and impaired citizens became part of daily life. Historic, paleo-pathological, iconographic and genetic research revealed several cases of acromegaly, achondroplasia, alpha-1-antitrypsin deficiency, cystic fibrosis, Down syndrome, Dupuytren’s contraction, goiter, Marfan syndrome, Paget’s disease and phenylketonuria. These observations want to illustrate that d...
 

 Open Access DOI:10.23937/2643-4571/1710014

Case Series Synopsis: Gaucher Disease Type 1 Patients Treated with Eliglustat over 6 Years

Cristina Fraga, Sonia Medeiros, Sara Serpa and David Silva

Article Type: Case Series | First Published: January 08, 2020

Gaucher disease (GD) type 1 is a lysosomal storage disorder associated with bone disease, hepatosplenomegaly, anemia and thrombocytopenia. Here we present a case series from 5 (3 females and 2 males) Portuguese individuals from a single institution with GD type 1 who were treated with substrate-reduction therapy (eliglustat, 84 mg once or twice daily) for 6-years. Four cases were switched from IV imiglucerase (28 U/kg q2 week [n = 1]) or 45 U/kg q2 week [n = 3]) and one was enzyme-replacement th...
 

 Open Access DOI:10.23937/2643-4571/1710013

Disseminated Cryptococcosis in a Deceptively Immunocompetent Adolescent

Vivek Sood, Raja Ramachandran, Rakesh Kumar Pilania, Arun Prabhakar, Neeraj Inamdar, Navin Pattanashetti, Vibhu Joshi, Madhubala Sharma, Amit Rawat, HS Kohli and KL Gupta

Article Type: Case Report | First Published: October 28, 2019

Cryptococcosis particularly if disseminated or extrapulmonary, in an otherwise immune-competent individual, especially if young, requires thorough evaluation for underlying primary immunodeficiency including Mendelian susceptibility to mycobacterial disease (MSMD). In this context, we describe an adolescent diagnosed with disseminated cryptococcosis involving skin, lymph nodes, spleen and hepato-biliary involvement with reduced IL-12β1 receptor expression suggesting underlying MSMD. Following i...
 

 Open Access DOI:10.23937/2643-4571/1710012

Fulminant Progressive Brainstem Encephalitis as Initial Manifestation of NeuroBechet's Disease

Tierra Rodriguez AM, MD, Fernandez Diaz A, M2, Perez Ruiz D, MD and Lopez Prada B, MD

Article Type: Case Report | First Published: October 07, 2019

Bechet's disease is a multisystemic process that can mimic many other diseases. Neurological features can be its first-onset symptoms. Brainstem is usually affected, so that a wide differential diagnosis is mandatory. We report the case of a patient who developed a fulminant and rapidly progressive brainstem encephalitis owing to NeuroBechet's disease. Bechet's disease (BD) is a hard-to-diagnose entity. Neurological features can sometimes be the first manifestation of the disease. Its symptoms c...
 

 Open Access DOI:10.23937/2643-4571/1710011

Dietary Intake and Hedonic Preferences for Sodium in Children, Adolescents and Young Adults with Barth Syndrome

Stacey Reynolds PhD, OTR/L, FAOTA, M Emily Tucker MS, OTR/L, W Todd Cade, PT, PhD, Nicol Clayton and Shelly J Lane PhD, OTR/L, FAOTA

Article Type: Original Research | First Published: September 28, 2019

Individuals with Barth syndrome (BTHS) present with decreased activity tolerance and high fatigability. Recent evidence suggests that differences in metabolic function in BTHS negatively impact the production of aerobic energy for activity and maintenance of muscle mass. Recommendations on a metabolically beneficial diet are complicated by selective eating behaviors often seen in individuals with BTHS. While known to be selective eaters with a preference for salty foods, there is limited evidenc...
 

 Open Access DOI:10.23937/2643-4571/1710009

Adult-Onset Epilepsy in Klinefelter Syndrome? Cognitive and Neurophysiological Evaluation of a 56-Year-Old Man

Yvonne Holler Adriana Sciarrone, Aljoscha Thomschewski and Nathalie Gerner

Article Type: Case Report | First Published: September 06, 2019

Klinefelter syndrome (KS) is one of the most common sex chromosome abnormalities and several cases are documented where children with KS present with epilepsy. Also, cognitive function deficits are common, despite high-functioning cases might occur. However, most reported cases are children or young adults. This case suggests that high-functioning patients with KS may present with epilepsy-typical activity, that could be indicative for late-onset epilepsy. Diagnostic means of routine EEG can be ...
 

 Open Access DOI:10.23937/2643-4571/1710008

Baseline Knowledge of Rare Diseases in India - A Survey

Agrawal RK, Amaresh Rao M, Brian M, Chowdary GKB, Gayatri K, Krishnaji Rao M, Sambasiva Rao P, Namineni S, Srinivasa Rao N, Sikri BR, Syed S, Gawron S, Agarwal DR, Lakshmi K and Ramaiah Muthyala

Article Type: Original Research | First Published: August 29, 2019

Recently, rare diseases have received worldwide attention. The developing countries have fallen seriously behind in regards to awareness, drug development, diagnosis, and social services. India, which has one-third of world rare diseases population, has neither accepted definition for RD nor an accurate assessment of the problem. Due to the exorbitant cost of orphan drugs, difficulties in diagnosis and treatments, the Indian government is often in a dilemma as to how to effectively, and efficien...
 

 Open Access DOI:10.23937/ijrdd-2017/1710007

Cladribine in the Treatment of Systemic Mastocytosis, a Review of the Literature

Marlies EHM and Van Hoef, MD, Phd, MBA

Article Type: REVIEW ARTICLE | First Published: March 07, 2019

Mastocystosis is a rare disease for which treatment with cladribine (2-chlorodeoxyadenosine) was first reported in 2001. Cladribine has meanwhile been administered in over hundred reported cases and is available for intravenous and subcutaneous administration. Cladribine has mainly been used in systemic mastocytosis and in larger series responses were obtained in over 50% of cases in which treatment with H1/H2 blockers, interferon or tyrosine kinase inhibitors did not induce a response. Literatu...
 

 Open Access DOI:10.23937/ijrdd-2017/1710006

Is Phoenicia the Origin of the N1303K CFTR Mutation?

Raed Farhat, Marie Claude Pasquet, Sandra Corbani, Andre Megarbane, Alain Kitzis and Veronique Ladeveze

Article Type: Commentray | First Published: January 26, 2019

The history of Lebanon, characterized by flows of different ethnic groups, has enabled the introduction of new genes and a wide variety of genetic diseases. The early development of medical services in Lebanon has facilitated the detection of many inherent disorders. CF figures among the 184 reported genetic diseases of the Lebanese population. Even though no epidemiological studies were performed to determine the CF incidence in Lebanon, multiple factors advocate that it could be relatively hig...
 

 Open Access DOI:10.23937/ijrdd-2017/1710005

Evaluation and Valuation of the Price of Expensive Medicinal Products: Application of the Discounted Cash Flow to Orphan Drugs

Mark Nuijten, Hans Joerg Fugel and Jan Vis

Article Type: Research Article | First Published: December 19, 2018

The current policy for price negotiations on high prices of orphan drugs in Europe is neither a transparent nor a structural solution for reimbursement decisions for orphan drugs. In a previous paper, we proposed the Discounted Cash Flow model as an alternative assessment methodology for the price of innovative drugs including the investor's perspective. The objective of this current paper was to apply this concept to orphan drugs in The Netherlands, where pharmaceutical companies were recently ...
 

 Open Access DOI:10.23937/ijrdd-2017/1710004

Retinal Overload Individualized during Hurler-Scheie Disease: Case Study Observations

Amine Hamma

Article Type: Case Report | First Published: July 11, 2018

Hurler-Scheie disease is an intermediate form of mucopolysaccharidosis type I. It is a rare metabolic disease that is transmitted in an autosomal recessive mode and causes overload of mucopolysaccharides in all organs including the eye....
 

 Open Access DOI:10.23937/ijrdd-2017/1710003

Concurrent Breast Cancer and Thymoma in an Immune Reconstituted HIV Positive Patient

SJ Winceslaus, Venkateshwaran Sivaraj, Julia Hall and Ramsay Singer

Article Type: Case Report | First Published: April 21, 2018

The expectation that the introduction of modern cART against HIV, leading to viral suppression and functional cure, would also herald complete immunological recovery has not materialised. In reality, even with the most effective cART, complete immunological recovery is seldom achieved, especially, if initiated at later stages of the disease. Thus, patients who do not achieve full immunological recovery remain at increased risk of cancers, chronic immune activation, inflammation and impaired coag...
 

 Open Access DOI:10.23937/ijrdd-2017/1710002

First Case of Gyrate Atrophy with Hyperornithinemia in Cuba Diagnosed by Ornithine Levels and Ophthalmological Evaluation

Contreras Roura Jiovanna, Robaina Zoe, Camayd Viera Ivette, Gonzalez-Gomez JC, Perez Garcia E, Martinez-Rey Laritza and Padron Aurelio David

Article Type: Original Article | First Published: March 29, 2018

Gyrate atrophy (GA) of the choroid and retina (GACR) is an extremely rare inherited retinal dystrophy. The disease is an autosomic recessive disorder, caused by mutations in the ornithine aminotransferase gene (OAT), which is localized on chromosome 10q26....
 

 Open Access DOI:10.23937/ijrdd-2017/1710001

Hereditary Ichthyosis and Achieving the Oral Mucosa, Retrospective Study of 33 Cases

Pr Omar Boudghene Stambouli and Dib Lachachi Amina

Article Type: Case Study | First Published: October 19, 2017

This is the most frequent and is transmitted on an autosomal dominant mode. It appears from the first months of life and is manifested by flaky scales on the faces of extension of the limbs and convexities in general. The face and the large folds are respected....

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ClinMed Journals Index Copernicus Values

Clinical Medical Image Library: 93.51

International Journal of Critical Care and Emergency Medicine: 92.83

International Journal of Sports and Exercise Medicine: 91.84

International Journal of Womens Health and Wellness: 91.79

Journal of Musculoskeletal Disorders and Treatment: 91.73

Journal of Geriatric Medicine and Gerontology: 91.55

Journal of Infectious Diseases and Epidemiology: 91.55

Clinical Medical Reviews and Case Reports: 91.40

International Archives of Nursing and Health Care: 90.87

International Journal of Ophthalmology and Clinical Research: 90.80

International Archives of Urology and Complications: 90.73

Journal of Clinical Nephrology and Renal Care: 90.33

Journal of Family Medicine and Disease Prevention: 89.99

Journal of Clinical Gastroenterology and Treatment: 89.54

Journal of Dermatology Research and Therapy: 89.34

International Journal of Clinical Cardiology: 89.24

International Journal of Radiology and Imaging Technology: 88.88

Obstetrics and Gynaecology Cases - Reviews: 88.42

International Journal of Blood Research and Disorders: 88.22

International Journal of Diabetes and Clinical Research: 87.97




New Issues

VOLUME 8, ISSUE 2

International Journal of Clinical Cardiology

ISSN: 2378-2951 | ICV: 89.24

VOLUME 8 | ISSUE 2 | 2021

VOLUME 8, ISSUE 2

Obstetrics and Gynaecology Cases - Reviews

ISSN: 2377-9004 | ICV: 88.42

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VOLUME 7, ISSUE 1

Journal of Hypertension and Management

ISSN: 2474-3690 | ICV: 87.69

VOLUME 7 | ISSUE 1 | 2021

VOLUME 8, ISSUE 2

International Journal of Diabetes and Clinical Research

ISSN: 2377-3634 | ICV: 87.97

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VOLUME 7, ISSUE 4

Journal of Infectious Diseases and Epidemiology

ISSN: 2474-3658 | ICV: 91.55

VOLUME 7 | ISSUE 4 | 2021