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.
Articles Search by Keyword | Journal title | Author name | DOI
Open Access DOI:10.23937/2643-4571/1710038
N Hazzab, S Mrhar, H Nassih, A Bourrahouat and I Aitsab
Article Type: Case Report | First Published: November 12, 2021
The urofacial (Ochoa) syndrome is a rare autosomal recessive disease characterized by congenital obstructive uropathy and abnormal facial expression. We reported the case of a child aged six-years-old, the second child of consanguineous parents, the father reported that she has suffered from episodes of urinary tract infection, and enuresis. She was admitted in our department for an urinary tract infection. The clinical examination showed a characteristic, inverted, facial expression. The urea a...
Open Access DOI:10.23937/2643-4571/1710037
Scott Clanton II, Rajani Adiga, MS, Amy Christie, MD, FACS and Dennis Ashley, MD, FACS, FCCM
Article Type: Case Report | First Published: September 13, 2021
Mitochondrial myopathies are a spectrum of rare diseases caused by a genetic defect in ATP production at the level of the electron transport chain. The degree of disability is variable, but often patients are severely ill and highly susceptible to increased morbidity and mortality with infection. Covid-19 is known to be especially virulent in patients with significant comorbidities. In this case, a 27-year-old man with Myoclonus Epilepsy with Ragged Red Fibers (MERRF) presented in severe shock d...
Open Access DOI:10.23937/2643-4571/1710036
Anthony Holland and Marguerite Hughes
Article Type: Opinion Piece | First Published: September 10, 2021
The International Prader-Willi Syndrome Organization (IPWSO) is a global charity first established in 1991 to support the needs of children and adults with the genetically determined neurodevelopmental disorder, Prader-Willi Syndrome (PWS), together with their families and health and social care professionals working with them. PWS affects all races and both genders equally and is associated with a complex physical and behavioral phenotype that requires interdisciplinary lifelong health support,...
Open Access DOI:10.23937/2643-4571/1710035
Jaclyn Megan Sions, PhD, DPT, PT, Maureen Donohoe, DPT, PT, Emma Haldane Beisheim, DPT, PT, Tracy Michele Shank, MS, OTR/L, CHT and Louise Reid Nichols, MD
Article Type: Original Article | First Published: September 06, 2021
Falls research among individuals with arthrogryposis multiplex congenita (AMC), a group of congenital conditions characterized by joint contractures in two or more body regions, is sparse. The primary objectives of this study were to estimate the prevalence of single, multiple, and injurious falls among adolescents and adults with AMC and identify factors associated with multiple and injurious falls. Individuals, aged 10-50 years, with a diagnosis of AMC completed questionnaires obtaining demogr...
Open Access DOI:10.23937/2643-4571/1710034
Syed Abedi, Jessica Chen, Sarala Joshi, Shefali Singh, Mustafa Sultan and Sifan Zheng
Article Type: Review Article | First Published: September 04, 2021
Numerous patients suffering from orphan diseases still lack a treatment. Pharmaceutical companies play a crucial role in the advancement of orphan drug development. This systematic literature review aims to identify and categorise current incentivising factors for pharmaceutical companies to develop orphan drugs. EMBASE and MEDLINE databases were systematically searched for terms related to orphan drug development incentives for pharmaceutical companies. Research findings were qualitatively eval...
Open Access DOI:10.23937/2643-4571/1710033
Aura Mwende, Athul Kooliyath, Pauline Samia, Kavulani Mutiso, Ravjit Sagoo, Patricia Okiro, Stanley Mugambi and Angela Migowa
Article Type: Case Report | First Published: September 03, 2021
Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare and disabling disorder that affects 1 in 2 million individuals worldwide. It is caused by mutations in bone morphogenetic protein which leads to extra-skeletal ossification of soft tissues in a characteristic cranio-caudal pattern. Hallux valgus, episodic flares and progressive functional disability are characteristic features. The cause of death is often cardio-respiratory failure following thoracic insufficiency. A two year 5-mon...
Open Access DOI:10.23937/2643-4571/1710032
Robyn A Wallace, BSc(Hons), DipEd, MSc, MBBS, FRACP, PhD, CF, FAFRM, Dip Pall Clin Care, G Dip Neuroscience, MD
Article Type: Brief Communication | First Published: July 29, 2021
At least half of adults with intellectual disability are estimated to have diagnosed or undiagnosed chromosomal or DNA mutations as the cause of their intellectual disability, which, by definition, are rare. Mostly however, associated physical health problems are not rare. An unintended consequence of focus on the rareness of the cause of the intellectual disability, no matter how useful that is to understanding the syndrome, is that it deflects attention away from the relatively common physical...
Open Access DOI:10.23937/2643-4571/1710031
Jean-Pascal Varescon, Christina Smaczny, Olaf Eickmeier, Gulja Babadjanova, Yulia Philippova, Stanislav Krasovskiy, Elena Amelina and Thomas Otto Friedrich Wagner
Article Type: Research Article | First Published: July 24, 2021
Previous studies have demonstrated that CF prognosis is dependent of three major parameters: FEV1, BMI and need of intravenous antibiotic therapy. The CF centres of Frankfurt, Germany, and Moscow, Russia, care for cystic fibrosis patients. We decided to investigate and compare both centers from 1990 to 2015. No comparable study has been published so far. German patient data was collected from the national cystic fibrosis database “Muko.web”. Missing values were extracted from the Hospital In...
Open Access DOI:10.23937/2643-4571/1710030
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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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