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  1. Authors: Junqi Feng, Chenxi Yang, Ling Zhu, Yuchen Zhang, Xiaoxu Zhao, Chi Chen, Qi-xing Chen, Qiang Shu, Pingping Jiang and Fan Tong

    Citation: Orphanet Journal of Rare Diseases 2021 16:505

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2021 16:392

  2. FLNA Loss-of-Function (LoF) causes periventricular nodular heterotopia type 1 (PVNH1), an acknowledged cause of seizures of various types. Neurological symptoms are inconstant, and cardiovascular (CV) defects or ...

    Authors: Clarisse Billon, Salma Adham, Natalia Hernandez Poblete, Anne Legrand, Michael Frank, Laurent Chiche, Stephane Zuily, Karelle Benistan, Laurent Savale, Khaoula Zaafrane-Khachnaoui, Anne-Claire Brehin, Laurence Bal, Tiffany Busa, Mélanie Fradin, Chloé Quelin, Bertrand Chesneau…

    Citation: Orphanet Journal of Rare Diseases 2021 16:504

    Content type: Research

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  3. Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited...

    Authors: Yiming Lin, Bangbang Lin, Yanru Chen, Zhenzhu Zheng, Qingliu Fu, Weihua Lin and Weifeng Zhang

    Citation: Orphanet Journal of Rare Diseases 2021 16:503

    Content type: Research

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  4. Gaucher disease (GD) is caused by reduced lysosomal enzyme β-glucocerebrosidase activity. Heterogeneous genotypes and phenotypes have been observed within GD types and across ethnicities. Enzyme replacement th...

    Authors: Rieko Sagara, Masahide Ishigaki, Manami Otsuka, Kei Murayama, Hiroyuki Ida and Jovelle Fernandez

    Citation: Orphanet Journal of Rare Diseases 2021 16:502

    Content type: Research

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  5. Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by cognitive impairment in most patients. This post hoc analysis evaluated changes in cognitive function, adaptive behavior a...

    Authors: Karen S. Yee, Yanyu Wu, Magdalena Harrington and Susan E. Waisbren

    Citation: Orphanet Journal of Rare Diseases 2021 16:501

    Content type: Research

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  6. Research about pediatric patients’ perspective on mucopolysaccharidosis type VI (MPS VI) and its impact on daily life is limited. We aimed to identify the disease concepts of interest that most impact function...

    Authors: Beth Leiro, Dawn Phillips, Melanie Duiker, Paul Harmatz and Sharon Charles

    Citation: Orphanet Journal of Rare Diseases 2021 16:500

    Content type: Research

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  7. Bleeding anomalies have been reported in patients affected by Noonan syndrome. No study has been performed in patients with molecularly confirmed RASopathy. We aimed to characterize the frequency and types of ...

    Authors: Francesca Di Candia, Valeria Marchetti, Ferdinando Cirillo, Alessandro Di Minno, Carmen Rosano, Stefano Pagano, Maria Anna Siano, Mariateresa Falco, Antonia Assunto, Giovanni Boccia, Gerardo Magliacane, Valentina Pinna, Alessandro De Luca, Marco Tartaglia, Giovanni Di Minno, Pietro Strisciuglio…

    Citation: Orphanet Journal of Rare Diseases 2021 16:499

    Content type: Research

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  8. COVID-19 has affected our society at large, particularly vulnerable groups, such as children suffering from rare diseases and their parents. However, the psychosocial influences of COVID-19 on these have yet t...

    Authors: Mareike Fuerboeter, Johannes Boettcher, Claus Barkmann, Holger Zapf, Rojin Nazarian, Silke Wiegand-Grefe, Konrad Reinshagen and Michael Boettcher

    Citation: Orphanet Journal of Rare Diseases 2021 16:498

    Content type: Research

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  9. Rare diseases occur in early childhood and have a major impact on the quality of life of the affected children and their families. Their need for psychosocial support is considerable, but psychosocial care in ...

    Authors: Stefanie Witt, Kaja Kristensen, Silke Wiegand-Grefe, Johannes Boettcher, Janika Bloemeke, Christina Wingartz, Monika Bullinger and Julia Quitmann

    Citation: Orphanet Journal of Rare Diseases 2021 16:497

    Content type: Research

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  10. The left ventricular noncompaction cardiomyopathy (LVNC) is a rare subtype of cardiomyopathy associated with a high risk of heart failure (HF), thromboembolism, arrhythmia, and sudden cardiac death.

    Authors: Yubi Lin, Jiana Huang, Zhiling Zhu, Zuoquan Zhang, Jianzhong Xian, Zhe Yang, Tingfeng Qin, Linxi Chen, Jingmin Huang, Yin Huang, Qiaoyun Wu, Zhenyu Hu, Xiufang Lin and Geyang Xu

    Citation: Orphanet Journal of Rare Diseases 2021 16:496

    Content type: Research

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  11. A patient reported outcome (PRO) instrument with evidence of validity and reliability for assessing symptoms of eosinophilic gastritis (EG) and eosinophilic gastroenteritis (EGE) is needed to measure treatment...

    Authors: Calvin N. Ho, Sean O’Quinn, Julie Bailey, Oren Meyers, Ashley F. Slagle, Evan S. Dellon and Catherine Datto

    Citation: Orphanet Journal of Rare Diseases 2021 16:495

    Content type: Research

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  12. The TRANSLATE-NAMSE project with the strengthening of the centers for rare diseases with their affiliation to the European Reference Networks was a major step towards the implementation of the German National ...

    Authors: D. Druschke, F. Krause, G. Müller, J. Scharfe, G. F. Hoffmann and J. Schmitt

    Citation: Orphanet Journal of Rare Diseases 2021 16:494

    Content type: Research

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  13. Niemann-Pick disease type C (NPC) is a debilitating condition that impacts patients’ and caregivers’ quality of life (QOL) and reduces the patient’s life expectancy. Since there is little qualitative research ...

    Authors: Eugen Mengel, Marc C. Patterson, Michael Chladek, Christina Guldberg, Christine í Dali, Tara Symonds, Lucy Lloyd-Price, Toni Mathieson, Joslyn Crowe and Claire Burbridge

    Citation: Orphanet Journal of Rare Diseases 2021 16:493

    Content type: Research

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  14. Hereditary gingival fibromatosis (HGF) is a rare condition characterized by slowly progressive overgrowth of the gingiva. The severity of overgrowth may differ from mild causing phonetic and masticatory issues...

    Authors: Karolina Strzelec, Agata Dziedzic, Katarzyna Łazarz-Bartyzel, Aleksander M. Grabiec, Ewa Gutmajster, Tomasz Kaczmarzyk, Paweł Plakwicz and Katarzyna Gawron

    Citation: Orphanet Journal of Rare Diseases 2021 16:492

    Content type: Review

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  15. Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is characterized by multifocal proliferation of pulmonary neuroendocrine cells. On chest CT, DIPNECH exhibits bilateral pulmonary nodules ...

    Authors: Bilal F. Samhouri, Chi Wan Koo, Eunhee S. Yi and Jay H. Ryu

    Citation: Orphanet Journal of Rare Diseases 2021 16:490

    Content type: Research

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  16. Low-grade optic pathway glioma (OPG) develops in 15–20% of children with neurofibromatosis type 1 (NF1). OPGs are symptomatic in 30–50% and one-third of these require treatment. A few studies have suggested fe...

    Authors: Anne Munk Henning, Mette Møller Handrup, Sia Mariann Kjeldsen, Dorte Ancher Larsen and Cecilie Ejerskov

    Citation: Orphanet Journal of Rare Diseases 2021 16:489

    Content type: Research

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  17. Cornelia de Lange (CdLS), Fragile X (FXS) and Rubinstein–Taybi syndromes (RTS) evidence unique profiles of autistic characteristics. To delineate these profiles further, the development of early social cogniti...

    Authors: Katherine Ellis, Jo Moss, Chrysi Stefanidou, Chris Oliver and Ian Apperly

    Citation: Orphanet Journal of Rare Diseases 2021 16:488

    Content type: Research

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  18. Person-reported outcomes measurement development for rare diseases has lagged behind that of more common diseases. In studies of caregivers of patients with rare diseases, one relies on proxy report to charact...

    Authors: Carolyn E. Schwartz, Roland B. Stark, David Cella, Katrina Borowiec, Katherine L. Gooch and Ivana F. Audhya

    Citation: Orphanet Journal of Rare Diseases 2021 16:487

    Content type: Research

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  19. Mucopolysaccharidosis type III (MPS III) or Sanfilippo syndrome is a neurodegenerative disease caused by the accumulation of mucopolysaccharides in the body. As the symptoms are wide ranging, it is a challenge...

    Authors: P. Pérez-Núñez, E. Lázaro, I. Amayra, J. F. López-Paz, P. Caballero, O. Martínez, M. Pérez, S. Berrocoso, M. Al-Rashaida, M. García, A. A. Rodríguez and P. M. Luna

    Citation: Orphanet Journal of Rare Diseases 2021 16:486

    Content type: Research

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  20. The aim of this case control study was to evaluate the prognostic value of automatically quantified retinal vessel tortuosity from fundus images and vessel density from OCT-A in Fabry disease and to evaluate t...

    Authors: Yevgeniya Atiskova, Jan Wildner, Martin Stephan Spitzer, Charlotte Aries, Nicole Muschol and Simon Dulz

    Citation: Orphanet Journal of Rare Diseases 2021 16:485

    Content type: Research

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  21. ABCB11 variations are responsible for a spectrum of rare liver diseases, including progressive familial intrahepatic cholestasis type 2 (PFIC2) and intrahepatic cholestasis of pregnancy (ICP). Current medical tre...

    Authors: Elodie Mareux, Martine Lapalus, Amel Ben-Saad, Isabelle Callebaut, Thomas Falguières, Emmanuel Gonzales and Emmanuel Jacquemin

    Citation: Orphanet Journal of Rare Diseases 2021 16:484

    Content type: Letter to the Editor

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  22. Limited knowledge and unclear underlying biology of many rare diseases pose significant challenges to patients, clinicians, and scientists. To address these challenges, there is an urgent need to inspire and e...

    Authors: Qian Zhu, Ðắc-Trung Nguyễn, Timothy Sheils, Gioconda Alyea, Eric Sid, Yanji Xu, James Dickens, Ewy A. Mathé and Anne Pariser

    Citation: Orphanet Journal of Rare Diseases 2021 16:483

    Content type: Research

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  23. Several scales have been developed in the past two decades to evaluate Niemann–Pick disease Type C (NPC) severity in clinical practice and trials. However, a lack of clarity concerning which scale to use in ea...

    Authors: William Evans, Marc Patterson, Frances Platt, Christina Guldberg, Toni Mathieson and Jessica Pacey

    Citation: Orphanet Journal of Rare Diseases 2021 16:482

    Content type: Research

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  24. Primary cervical gestational trophoblastic neoplasias (GTNs) are extremely rare ectopic GTNs. Such lesions are difficult to diagnose clinically because of their rarity, with abnormal vaginal bleeding of a non-...

    Authors: Xiaoyu Wang, Junjun Yang, Xirun Wan, Fengzhi Feng, Jun Zhao, Tong Ren and Yang Xiang

    Citation: Orphanet Journal of Rare Diseases 2021 16:480

    Content type: Research

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  25. Extranodal NK/T-cell lymphoma of the breast (ENKTL-Breast) is rarely detected in clinical practice, and its clinicopathological features remain unclear.

    Authors: Wei Liu, Zihang Chen, Fanglan Li, Wenyan Zhang, Weiping Liu and Sha Zhao

    Citation: Orphanet Journal of Rare Diseases 2021 16:479

    Content type: Research

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  26. Hepatic arteriovenous malformations (AVMs) in hereditary hemorrhagic telangiectasia (HHT) patients are most commonly hepatic artery to hepatic venous shunts which can result in high-output heart failure. This ...

    Authors: Lucas R. Cusumano, Joseph A. Tesoriero, Craig B. Wilsen, James Sayre, Matthew Quirk and Justin P. McWilliams

    Citation: Orphanet Journal of Rare Diseases 2021 16:478

    Content type: Research

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  27. Insufficient metabolic control during pregnancy of mothers with phenylketonuria (PKU) leads to maternal PKU syndrome, a severe embryo-/fetopathy. Since maintaining or reintroducing the strict phenylalanine (Ph...

    Authors: Carmen Rohde, Alena Gerlinde Thiele, Christoph Baerwald, Rudolf Georg Ascherl, Dinah Lier, Ulrike Och, Christina Heller, Alexandra Jung, Kathrin Schönherr, Monika Joerg-Streller, Simone Luttat, Sabine Matzgen, Tina Winkler, Stefanie Rosenbaum-Fabian, Oxana Joos and Skadi Beblo

    Citation: Orphanet Journal of Rare Diseases 2021 16:477

    Content type: Research

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  28. Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of phenylalanine to tyrosine. PAH impairment cau...

    Authors: Alberto Burlina, Giacomo Biasucci, Maria Teresa Carbone, Chiara Cazzorla, Sabrina Paci, Francesca Pochiero, Marco Spada, Albina Tummolo, Juri Zuvadelli and Vincenzo Leuzzi

    Citation: Orphanet Journal of Rare Diseases 2021 16:476

    Content type: Position statement

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  29. Children with Phenylketonuria (PKU) need a special diet to avoid a variety of physical and psychological complications. The aim of this study was to compare and assess the effects of two interventions on and l...

    Authors: Reza Zamani, Akram Karimi-Shahanjarini, Leili Tapak and Babak Moeini

    Citation: Orphanet Journal of Rare Diseases 2021 16:475

    Content type: Research

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  30. Diagnosis, treatment, and care of patients with rare diseases require multidisciplinary cooperation between medical and paramedical specialities and with patients and families. Innovative genetic diagnostics, ...

    Authors: Daniela Choukair, Fabian Hauck, Markus Bettendorf, Heiko Krude, Christoph Klein, Tobias Bäumer, Reinhard Berner, Min Ae Lee-Kirsch, Corinna Grasemann, Peter Burgard and Georg F. Hoffmann

    Citation: Orphanet Journal of Rare Diseases 2021 16:474

    Content type: Research

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  31. Wound management is a critical factor when treating patients with the inherited skin fragility disease dystrophic epidermolysis bullosa (DEB). Due to genetic defects in structural proteins, skin and mucous epi...

    Authors: Christina Guttmann-Gruber, Josefina Piñón Hofbauer, Birgit Tockner, Victoria Reichl, Alfred Klausegger, Peter Hofbauer, Martin Wolkersdorfer, Khek-Chian Tham, Seong Soo Lim, John E. Common, Anja Diem, Katharina Ude-Schoder, Wolfgang Hitzl, Florian Lagler, Julia Reichelt, Johann W. Bauer…

    Citation: Orphanet Journal of Rare Diseases 2021 16:473

    Content type: Research

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  32. Individuals with Williams syndrome (WS) have an elevated risk for anxiety disorders throughout the life span, making it a research priority to identify the individual factors associated with anxiety. Most of t...

    Authors: Charlotte Willfors, Deborah M. Riby, Marcus van der Poll, Katja Ekholm, Hanna Avdic Björlin, Johan Lundin Kleberg and Ann Nordgren

    Citation: Orphanet Journal of Rare Diseases 2021 16:472

    Content type: Research

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  33. Craniofacial fibrous dysplasia is a fairly rare condition. Some literature have reported a few patients with craniofacial fibrous dysplasia suffering from vascular abnormalities. This study aimed to describe t...

    Authors: Xiaowen Song and Zhi Li

    Citation: Orphanet Journal of Rare Diseases 2021 16:471

    Content type: Research

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  34. The Italian Clinical network for FSHD (ICNF) has established the Italian National Registry for FSHD (INRF), collecting data from patients affected by Facioscapulohumeral dystrophy (FSHD) and their relatives. The ...

    Authors: Cinzia Bettio, Valentina Salsi, Mirko Orsini, Enrico Calanchi, Luca Magnotta, Luca Gagliardelli, June Kinoshita, Sonia Bergamaschi and Rossella Tupler

    Citation: Orphanet Journal of Rare Diseases 2021 16:470

    Content type: Research

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  35. For chronic congenital endocrine conditions, age at diagnosis is a key issue with implications for optimal management and psychological concerns. These conditions are associated with an increase in the risk of...

    Authors: Wafa Kallali, Claude Messiaen, Roumaisah Saïdi, Soucounda Lessim, Magali Viaud, Jerome Dulon, Mariana Nedelcu, Dinane Samara, Muriel Houang, Bruno Donadille, Carine Courtillot, GianPaolo de Filippo, Jean-Claude Carel, Sophie Christin-Maitre, Philippe Touraine, Irene Netchine…

    Citation: Orphanet Journal of Rare Diseases 2021 16:469

    Content type: Research

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  36. Achondroplasia is the most common form of disproportionate skeletal dysplasia. The condition is caused by a mutation in the FGFR3 gene, affecting endochondral bone growth, including the craniofacial anatomy. Recu...

    Authors: Svein O. Fredwall, Björn Åberg, Hanne Berdal, Ravi Savarirayan and Jorunn Solheim

    Citation: Orphanet Journal of Rare Diseases 2021 16:468

    Content type: Research

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  37. Patients with lymphangioleiomyomatosis (LAM) frequently experience pneumothorax. Although sirolimus is the standard therapy for LAM, its effect on pneumothorax is controversial. Recently, total pleural coverin...

    Authors: Teiko Sakurai, Toru Arai, Masaki Hirose, Kensuke Kojima, Tetsuki Sakamoto, Yoshinobu Matsuda, Chikatoshi Sugimoto, Hyung-Eun Yoon and Yoshikazu Inoue

    Citation: Orphanet Journal of Rare Diseases 2021 16:466

    Content type: Research

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  38. Identification and characterisation of monogenic causes of complex neurological phenotypes are important for genetic counselling and prognostication. Bi-allelic pathogenic variants in the gene encoding GLRX5, ...

    Authors: Bindu Parayil Sankaran, Sachin Gupta, Michel Tchan, Beena Devanapalli, Yusof Rahman, Peter Procopis and Kaustuv Bhattacharya

    Citation: Orphanet Journal of Rare Diseases 2021 16:465

    Content type: Research

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  39. Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation is v...

    Authors: Pilar Quijada-Fraile, Elena Arranz Canales, Elena Martín-Hernández, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Guillem Pintos-Morell, Marc Moltó-Abad, David Moreno-Martínez, Salvador García Morillo, Javier Blasco-Alonso, María Luz Couce, Ricardo Gil Sánchez, Elisenda Cortès-Saladelafont, Mónica A. López Rodríguez, María Teresa García-Silva and Montserrat Morales Conejo

    Citation: Orphanet Journal of Rare Diseases 2021 16:464

    Content type: Research

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  40. Understanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics. Recruitment and long-term participati...

    Authors: Muhammad Kassim Javaid, Marina Mordenti, Manila Boarini, Luca Sangiorgi, Ingunn Westerheim, Inês Alves, Rebecca Tvedt Skarberg, Natasha M. Appelman-Dijkstra and Corinna Grasemann

    Citation: Orphanet Journal of Rare Diseases 2021 16:463

    Content type: Research

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  41. Neurofibromatosis 1 (NF1) is a rare autosomal dominant disease that causes the dysregulated growth of Schwann cells. Most reported studies of brain morphology in NF1 patients have included only children, and c...

    Authors: Su Wang, Victor-Felix Mautner, Ralph Buchert, Stephane Flibotte, Per Suppa, Jan M. Friedman and Manraj K. S. Heran

    Citation: Orphanet Journal of Rare Diseases 2021 16:462

    Content type: Research

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  42. Epilepsy is a neurological disorder characterized by the potential to induce seizure and accompanied by cognitive, psychological, and social consequences. CACNA1A gene is a voltage-gated P/Q-type Cav2.1 channel t...

    Authors: Elham Alehabib, Zahra Esmaeilizadeh, Sakineh Ranji-Burachaloo, Abbas Tafakhori, Hossein Darvish and Abolfazl Movafagh

    Citation: Orphanet Journal of Rare Diseases 2021 16:461

    Content type: Research

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  43. Sickle cell disease (SCD) is a collection of rare inherited blood disorders affecting approximately 100,000 people in the U.S. and 20–25 million people globally. Individuals with SCD experience recurrent episo...

    Authors: Ahmar U. Zaidi, Alexander K. Glaros, Soyon Lee, Taiji Wang, Rhea Bhojwani, Eric Morris, Breanne Donohue, Jincy Paulose, Şerban R. Iorga and Dave Nellesen

    Citation: Orphanet Journal of Rare Diseases 2021 16:460

    Content type: Research

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  44. Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in...

    Authors: M. J. Pablo, P. Pamplona, M. Haddad, I. Benavente, A. Latorre-Pellicer, M. Arnedo, L. Trujillano, G. Bueno-Lozano, L. M. Kerr, S. A. Huisman, F. J. Kaiser, F. Ramos, A. D. Kline, J. Pie and B. Puisac

    Citation: Orphanet Journal of Rare Diseases 2021 16:458

    Content type: Research

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  45. Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disease, characterised by fluctuating muscle weakness which makes it challenging to assess symptom severity. Mixed methods psychometrics (MMP), whic...

    Authors: Sophie Cleanthous, Ann-Christin Mork, Antoine Regnault, Stefan Cano, Henry J. Kaminski and Thomas Morel

    Citation: Orphanet Journal of Rare Diseases 2021 16:457

    Content type: Research

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