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  1. Mucopolysaccharidosis type I-Hurler syndrome (MPSI-H) is a lysosomal storage disease characterized by severe physical symptoms and cognitive decline. Early treatment with hematopoietic cell transplant (HSCT) i...

    Authors: N. Guffon, M. Pettazzoni, N. Pangaud, C. Garin, G. Lina-Granade, C. Plault, C. Mottolese, R. Froissart and A. Fouilhoux
    Citation: Orphanet Journal of Rare Diseases 2021 16:60
    Content type: Research Published on:

  2. Mandibular condylar osteochondroma (OC) could lead to facial morphologic and functional disturbances, such as facial asymmetry, malocclusion, and temporomandibular joint dysfunction. However, after condylar OC...

    Authors: Lei Qi, Ningning Cao, Weiwen Ge, Tengfei Jiang, Linfeng Fan and Lei Zhang
    Citation: Orphanet Journal of Rare Diseases 2021 16:59
    Content type: Research Published on:

  3. Anti-melanoma differentiation-associated protein-5 (anti-MDA5) positive patients are characterized by the high mortality rate caused by interstitial lung disease (ILD). We conducted a retrospective study to su...

    Authors: Qihua Yang, Tianfang Li, Xin Zhang, Kunlong Lyu, Shujun Wu, Yan Chen, Shengyun Liu and Zujiang Yu
    Citation: Orphanet Journal of Rare Diseases 2021 16:58
    Content type: Research Published on:

  4. Duchenne muscular dystrophy (DMD) manifests in males mainly by skeletal muscle impairment, but also by cardiac dysfunction. The assessment of the early phases of cardiac involvement using echocardiography is o...

    Authors: Roman Panovský, Martin Pešl, Jan Máchal, Tomáš Holeček, Věra Feitová, Lenka Juříková, Lucia Masárová, Eva Pešlová, Lukáš Opatřil, Mary Luz Mojica-Pisciotti and Vladimír Kincl
    Citation: Orphanet Journal of Rare Diseases 2021 16:57
    Content type: Research Published on:

  5. Being a newly defined disease, RVCL-S is underrecognized by clinicians globally. It is an autosomal dominantly inherited small vessel disease caused by the heterozygous C-terminal frameshift mutation in TREX1 gen...

    Authors: Nina Xie, Qiying Sun, Jinxia Yang, Yangjie Zhou, Hongwei Xu, Lin Zhou and Yafang Zhou
    Citation: Orphanet Journal of Rare Diseases 2021 16:56
    Content type: Research Published on:

  6. Thygeson’s superficial punctate keratitis (TSPK) is a rare and still poorly understood disease of the ocular surface, responsible for recurrent episodes of photophobia and eye pain. While TSPK is considered as...

    Authors: Rana Saad, Sami Saad, Oscar Haigh, Domitille Molinari, Marc Labetoulle and Antoine Rousseau
    Citation: Orphanet Journal of Rare Diseases 2021 16:55
    Content type: Research Published on:

  7. Pain is a highly prevalent symptom experienced by patients across numerous rare musculoskeletal conditions. Much remains unknown regarding the central, neurobiological processes associated with clinical pain i...

    Authors: Ke Peng, Keerthana Deepti Karunakaran, Robert Labadie, Miranda Veliu, Chandler Cheung, Arielle Lee, Paul B. Yu and Jaymin Upadhyay
    Citation: Orphanet Journal of Rare Diseases 2021 16:54
    Content type: Research Published on:

  8. Epidermolysis bullosa (EB) is a group of rare genetic skin disorders that primarily manifest as blisters and erosions following mild mechanical trauma. Despite the crucial role of the parents of children with ...

    Authors: Petra J. Mauritz, Marieke Bolling, José C. Duipmans and Mariët Hagedoorn
    Citation: Orphanet Journal of Rare Diseases 2021 16:53
    Content type: Research Published on:

  9. Epidermolysis bullosa (EB) comprises a heterogeneous group of rare genetic diseases associated with skin blistering caused by minimal trauma. A major and common EB subtype, recessive dystrophic EB (RDEB), is c...

    Authors: Fedele Lembo, Domenico Parisi, Liberato Roberto Cecchino, Francesco Ciancio, Alessandro Innocenti and Aurelio Portincasa
    Citation: Orphanet Journal of Rare Diseases 2021 16:52
    Content type: Research Published on:

  10. FBLN5-related cutis laxa (CL) is a rare disorder that involves elastic fiber-enriched tissues and is characterized by lax skin and variable systemic involvement such as pulmonary emphysema, arterial involvement, ...

    Authors: Jalal Gharesouran, Hassan Hosseinzadeh, Soudeh Ghafouri-Fard, Yalda Jabbari Moghadam, Javad Ahmadian Heris, Amir Hossein Jafari-Rouhi, Mohammad Taheri and Maryam Rezazadeh
    Citation: Orphanet Journal of Rare Diseases 2021 16:51
    Content type: Research Published on:

  11. To investigate the clinical characteristics, treatment, prognosis and risk factors for chronic active Epstein–Barr Virus infection (CAEBV) associated with coronary artery dilatation (CAD) in children.

    Authors: Ang Wei, Honghao Ma, Liping Zhang, Zhigang Li, Yitong Guan, Qing Zhang, Dong Wang, Hongyun Lian, Rui Zhang and Tianyou Wang
    Citation: Orphanet Journal of Rare Diseases 2021 16:50
    Content type: Research Published on:

  12. Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The main symptom is neurogenic pain. The diagnosis requires the presence of several schwanno...

    Authors: I. Gallais Sérézal, S. Ferkal, L. Lerman, S. Mulé, B. Funalot and P. Wolkenstein
    Citation: Orphanet Journal of Rare Diseases 2021 16:49
    Content type: Letter to the Editor Published on:

  13. Fibrosarcomatous dermatofibrosarcoma protuberans (FS-DFSP) is a form of tumor progression of dermatofibrosarcoma protuberans (DFSP) with an increased risk of metastasis and recurrence. Few studies have compare...

    Authors: Yanan Li, Jiaqi Liang, Xuewen Xu, Xian Jiang, Chuan Wang, Siyuan Chen, Bo Xiang and Yi Ji
    Citation: Orphanet Journal of Rare Diseases 2021 16:48
    Content type: Research Published on:

  14. Spinal muscular atrophy (SMA) is a rare and devastating condition for which new disease-modifying treatments have recently been approved. Given the increasing importance of economic considerations in healthcar...

    Authors: Tamara Dangouloff, Camille Botty, Charlotte Beaudart, Laurent Servais and Mickaël Hiligsmann
    Citation: Orphanet Journal of Rare Diseases 2021 16:47
    Content type: Review Published on:

  16. Female-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the ...

    Authors: Noémi Széll, Tamás Fehér, Zoltán Maróti, Tibor Kalmár, Dóra Latinovics, István Nagy, Zsuzsanna Z. Orosz, Márta Janáky, Andrea Facskó and Zoltán Sohajda
    Citation: Orphanet Journal of Rare Diseases 2021 16:45
    Content type: Research Published on:

  17. In the absence of a cure for the majority of rare diseases, the disease management aims to provide optimal supportive care. The goal of this study was to assess supportive care needs in patients with chronic r...

    Authors: Miram K. Depping, Natalie Uhlenbusch, Yskert von Kodolitsch, Hans F. E. Klose, Victor-Felix Mautner and Bernd Löwe
    Citation: Orphanet Journal of Rare Diseases 2021 16:44
    Content type: Research Published on:

  18. Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due to their rarity, the characterization of the m...

    Authors: Chiara Leoni, Domenico Marco Romeo, Michele Pelliccioni, Mariangela Di Già, Roberta Onesimo, Valentina Giorgio, Elisabetta Flex, Marta Tedesco, Marco Tartaglia, Donato Rigante, Antonio Valassina and Giuseppe Zampino
    Citation: Orphanet Journal of Rare Diseases 2021 16:43
    Content type: Research Published on:

  19. Silver-Russell syndrome (SRS) is an imprinting disorder which is characterised by severe primordial growth retardation, relative macrocephaly and a typical facial gestalt. The clinical heterogeneity of SRS is ...

    Authors: Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Magdeldin Elgizouli, Ulrike Schara, Laima Ambrozaityte, Birute Burnyte, Carmen Schröder, Asmaa Kenawy, Peter Kroisel, Stephanie Demuth, Gyorgy Fekete, Thomas Opladen, Miriam Elbracht…
    Citation: Orphanet Journal of Rare Diseases 2021 16:42
    Content type: Research Published on:

  21. Skeletal dysplasia are genetic disorders of cartilage and bone, characterized by impairments commonly resulting in short stature, altered movement biomechanics, pain, fatigue and reduced functional performance...

    Authors: Penelope J. Ireland, Ravi Savarirayan, Tash Pocovi, Tracy Tate, Marie Coussens, Louise Tofts, Craig Munns and Verity Pacey
    Citation: Orphanet Journal of Rare Diseases 2021 16:40
    Content type: Research Published on:

  22. Mucolipidosis type IV (MLIV), an ultra-rare neurodevelopmental and neurodegenerative disorder, is caused by mutations in the MCOLN1 gene, which encodes the late endosomal/lysosomal transient receptor potential ch...

    Authors: Ayelet Vardi, Amir Pri-Or, Noa Wigoda, Yulia Grishchuk and Anthony H. Futerman
    Citation: Orphanet Journal of Rare Diseases 2021 16:39
    Content type: Research Published on:

  23. We present baseline characteristics and follow-up data of a Managed Access Agreement (MAA), including patients with mucopolysaccharidosis IVA (MPS IVA) receiving elosulfase alfa enzyme replacement therapy (ERT...

    Authors: Maureen Cleary, James Davison, Rachel Gould, Tarekegn Geberhiwot, Derralynn Hughes, Jean Mercer, Alexandra Morrison, Elaine Murphy, Saikat Santra, James Jarrett, Swati Mukherjee and Karolina M. Stepien
    Citation: Orphanet Journal of Rare Diseases 2021 16:38
    Content type: Research Published on:

  24. Repeated inflammation of the pancreas can cause pancreatitis or diabetes. It is well recognized that the organic acidemias may be complicated by pancreatitis but less recognized are other metabolic disorders i...

    Authors: Woo Jin Hwang, Han Hyuk Lim, Yoo-Mi Kim, Mea Young Chang, Hong Ryang Kil, Jae Young Kim, Wung Joo Song, Harvey L. Levy and Sook-Za Kim
    Citation: Orphanet Journal of Rare Diseases 2021 16:37
    Content type: Review Published on:

  26. Phenylketonuria (PKU) is an autosomal recessive inherited disorder characterised by a deficiency in phenylalanine hydroxylase. Untreated, PKU is associated with a wide range of cognitive and psychiatric sequel...

    Authors: Nicholas M. Burgess, Wendy Kelso, Charles B. Malpas, Toby Winton-Brown, Timothy Fazio, Julie Panetta, Gerard De Jong, Joanna Neath, Sonny Atherton, Dennis Velakoulis and Mark Walterfang
    Citation: Orphanet Journal of Rare Diseases 2021 16:35
    Content type: Research Published on:

  27. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genodermatosis characterized by cutaneous leiomyoma (CLM), uterine leiomyoma (ULM) and renal cell carcinoma (RCC). Five HLRCC patients are p...

    Authors: Zahraa Chayed, Lone Krøldrup Kristensen, Lilian Bomme Ousager, Karina Rønlund and Anette Bygum
    Citation: Orphanet Journal of Rare Diseases 2021 16:34
    Content type: Review Published on:

  28. Untreated hemophilia A patients may experience recurrent bleeding events leading to debilitating joint damages. While RCT and pharmacokinetic data support the value of Kovaltry [an unmodified full-length recom...

    Authors: Jamie O’Hara, Ceri Hirst, Jose Francisco Cabre Marquez and Tom Burke
    Citation: Orphanet Journal of Rare Diseases 2021 16:33
    Content type: Letter to the Editor Published on:

  29. Movement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders with reduction in the degree of movements. The ob...

    Authors: Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau…
    Citation: Orphanet Journal of Rare Diseases 2021 16:32
    Content type: Research Published on:

  30. Recognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are challenging, due to the rarity of these conditions, and dearth of literature to support evidenc...

    Authors: Ravi Savarirayan, David E. Tunkel, Laura M. Sterni, Michael B. Bober, Tae-Joon Cho, Michael J. Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E. Kamps, William G. Mackenzie, Cathleen Raggio, Samantha A. Spencer, Viviana Bompadre and Klane K. White
    Citation: Orphanet Journal of Rare Diseases 2021 16:31
    Content type: Research Published on:

  31. Neuroendocrine neoplasia of the small intestine (siNEN) are frequently diagnosed with liver metastases. The impact of the presence of liver metastases on overall survival and the necessity of surgery for liver...

    Authors: Andreas Selberherr, Simon Freermann, Oskar Koperek, Martin B. Niederle, Philipp Riss, Christian Scheuba and Bruno Niederle
    Citation: Orphanet Journal of Rare Diseases 2021 16:30
    Content type: Research Published on:

  32. Diffuse interstitial lung disease have been described in Neurofibromatosis type 1 (NF1), but its diversity and prevalence remain unknown. The aim of this study was to assess the prevalence and characteristics ...

    Authors: Maxim Avanesov, Lennart Well, Azien Laqmani, Thorsten Derlin, Vincent M. Riccardi, Gerhard Adam, Victor-Felix Mautner and Johannes Salamon
    Citation: Orphanet Journal of Rare Diseases 2021 16:29
    Content type: Research Published on:

  33. Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare inborn errors of metabolism with autosomal recessive inheritance that may cause life-threatening events. Treatment with triheptanoin, a s...

    Authors: Thomas Zöggeler, Katharina Stock, Monika Jörg-Streller, Johannes Spenger, Vassiliki Konstantopoulou, Miriam Hufgard-Leitner, Sabine Scholl-Bürgi and Daniela Karall
    Citation: Orphanet Journal of Rare Diseases 2021 16:28
    Content type: Research Published on:

  35. For many rare diseases, few treatments are supported by strong evidence. Patients, family members, health care providers, and policy-makers thus have to consider whether to accept, recommend, or fund treatment...

    Authors: Kylie Tingley, Doug Coyle, Ian D. Graham, Pranesh Chakraborty, Kumanan Wilson and Beth K. Potter
    Citation: Orphanet Journal of Rare Diseases 2021 16:26
    Content type: Research Published on:

  36. Despite emerging treatments for hereditary transthyretin (ATTRv) amyloidosis, the disease is often misdiagnosed, with reported diagnostic delays of up to several years. Knowledge of the patient journey leading...

    Authors: Montserrat Vera-Llonch, Sheila R. Reddy, Eunice Chang, Marian H. Tarbox and Michael Pollock
    Citation: Orphanet Journal of Rare Diseases 2021 16:25
    Content type: Research Published on:

  37. Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS...

    Authors: Michela Semeraro, Elisa Sacchetti, Federica Deodato, Turgay Coşkun, Incilay Lay, Giulio Catesini, Giorgia Olivieri, Cristiano Rizzo, Sara Boenzi and Carlo Dionisi-Vici
    Citation: Orphanet Journal of Rare Diseases 2021 16:24
    Content type: Research Published on:

  38. Hereditary angioedema associated to C1 inhibitor deficiency (C1-INH-HAE) is a pathological condition characterized by episodes of subcutaneous swelling and it is frequently associated with discomfort and socia...

    Authors: Livia Savarese, Maria Bova, Assunta Maiello, Angelica Petraroli, Ilaria Mormile, Mauro Cancian, Riccardo Senter, Andrea Zanichelli, Giuseppe Spadaro and Maria Francesca Freda
    Citation: Orphanet Journal of Rare Diseases 2021 16:23
    Content type: Research Published on:

  39. Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, ...

    Authors: Lili Liang, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye…
    Citation: Orphanet Journal of Rare Diseases 2021 16:22
    Content type: Research Published on:

  40. In Pompe disease, an inherited metabolic muscle disorder, severe diaphragmatic weakness often occurs. Enzyme replacement treatment is relatively ineffective for respiratory function, possibly because of irreve...

    Authors: Laurike Harlaar, Pierluigi Ciet, Gijs van Tulder, Alice Pittaro, Harmke A. van Kooten, Nadine A. M. E. van der Beek, Esther Brusse, Piotr A. Wielopolski, Marleen de Bruijne, Ans T. van der Ploeg, Harm A. W. M. Tiddens and Pieter A. van Doorn
    Citation: Orphanet Journal of Rare Diseases 2021 16:21
    Content type: Research Published on:

  41. The congenital disorders of glycosylation (CDG) are a heterogeneous group of rare metabolic diseases with multi-system involvement. The liver phenotype of CDG varies not only according to the specific disorder...

    Authors: Rodrigo Tzovenos Starosta, Suzanne Boyer, Shawn Tahata, Kimiyo Raymond, Hee Eun Lee, Lynne A. Wolfe, Christina Lam, Andrew C. Edmondson, Ida Vanessa Doederlein Schwartz and Eva Morava
    Citation: Orphanet Journal of Rare Diseases 2021 16:20
    Content type: Research Published on:

  42. Primary lymphedema is a rare chronic pathology associated with constitutional abnormalities of the lymphatic system. The objective of this French National Diagnosis and Care Protocol (Protocole National de Dia...

    Authors: Stéphane Vignes, Juliette Albuisson, Laurence Champion, Joël Constans, Valérie Tauveron, Julie Malloizel, Isabelle Quéré, Laura Simon, Maria Arrault, Patrick Trévidic, Philippe Azria and Annabel Maruani
    Citation: Orphanet Journal of Rare Diseases 2021 16:18
    Content type: Position statement Published on:

  44. Retrospective questionnaire and healthcare administrative data suggest reduced life expectancy in untreated hereditary hemorrhagic telangiectasia (HHT). Prospective data suggests similar mortality, to the gene...

    Authors: K. P. Thompson, J. Nelson, H. Kim, L. Pawlikowska, D. A. Marchuk, M. T. Lawton and Marie E. Faughnan
    Citation: Orphanet Journal of Rare Diseases 2021 16:12
    Content type: Research Published on:

  45. Bone tissue represents a large systemic compartment of the human body, with an active metabolism, that controls mineral deposition and removal, and where several factors may play a role. For these reasons, sev...

    Authors: L. Masi, S. Ferrari, M. K. Javaid, S. Papapoulos, D. D. Pierroz and M. L. Brandi
    Citation: Orphanet Journal of Rare Diseases 2021 16:11
    Content type: Review Published on:

  46. Spinal muscular atrophy (SMA) issues from mutations in the survival of motor neuron (SMN) 1 gene. Loss or reduction of the SMN protein results in progressive muscle weakness. Whether this protein deficiency also ...

    Authors: Lucas Mix, Olivia Schreiber-Katz, Claudia D. Wurster, Zeljko Uzelac, Sophia Platen, Christina Gipperich, Gresa Ranxha, Gary Wieselmann, Alma Osmanovic, Albert C. Ludolph, Susanne Petri and Dorothée Lulé
    Citation: Orphanet Journal of Rare Diseases 2021 16:10
    Content type: Research Published on:

  47. This article presents evidence-based Clinical Practice Guidelines (CPG) for the provision of healthcare services to address sexuality for people living with epidermolysis bullosa (EB). Currently, a lack of EB-...

    Authors: Alex King, Humphrey Hanley, Mark Popenhagen, Florencia Perez, Kerry Thompson, Diana Purvis, Nora Garcia, Ida Steinlein, Mia Werkentoft, Matthew Lightfoot, Michelle Lahat, Kalsoom Begum and Julio Tanabe
    Citation: Orphanet Journal of Rare Diseases 2021 16:9
    Content type: Review Published on:

  48. The relevant role of long non-coding RNAs (lncRNAs) in cancer is currently a matter of increasing interest. Medullary thyroid cancer (MTC) is a rare neuroendocrine tumor (2–5% of all thyroid cancer) derived fr...

    Authors: Berta Luzón-Toro, Leticia Villalba-Benito, Raquel María Fernández, Ana Torroglosa, Guillermo Antiñolo and Salud Borrego
    Citation: Orphanet Journal of Rare Diseases 2021 16:4
    Content type: Letter to the Editor Published on:

  49. Centronuclear myopathies are severe rare congenital diseases. The clinical variability and genetic heterogeneity of these myopathies result in major challenges in clinical trial design. Alternative strategies ...

    Authors: Eve Fouarge, Arnaud Monseur, Bruno Boulanger, Mélanie Annoussamy, Andreea M. Seferian, Silvana De Lucia, Charlotte Lilien, Leen Thielemans, Khazal Paradis, Belinda S. Cowling, Chris Freitag, Bradley P. Carlin and Laurent Servais
    Citation: Orphanet Journal of Rare Diseases 2021 16:3
    Content type: Research Published on:

  50. In the Netherlands (NL) the government assigned 2 hospitals as centres of expertise (CE) for Phenylketonuria (PKU), while in the United Kingdom (UK) and Germany no centres are assigned specifically as PKU CE’s.

    Authors: A. M. J. van Wegberg, A. MacDonald, D. Abeln, T. S. Hagedorn, E. Lange, F. Trefz, D. van Vliet and F. J. van Spronsen
    Citation: Orphanet Journal of Rare Diseases 2021 16:2
    Content type: Research Published on:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172