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Rare bone diseases and skeletal dysplasias

  1. 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

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  2. Cartilage-hair hypoplasia (CHH) is a rare skeletal dysplasia characterized by disproportionate short stature, immunodeficiency, anemia and risk of malignancies. All these features can affect pregnancy and pred...

    Authors: Elina Holopainen, Svetlana Vakkilainen and Outi Mäkitie

    Citation: Orphanet Journal of Rare Diseases 2020 15:326

    Content type: Research

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  3. Achondroplasia is the most common dwarfing disorder. It can result in a variety of sequelae, including neurologic complications, among which high cervical myelopathy is one of particular concern. However, some...

    Authors: Cory J. Smid, Janet M. Legare, Peggy Modaff and Richard M. Pauli

    Citation: Orphanet Journal of Rare Diseases 2020 15:301

    Content type: Research

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  4. Vitamin D-dependent rickets type IA (VDDR-IA) is a rare autosomal recessive disorder characterized by the early onset of severe rickets. The objectives of this study were twofold: (1) to analyze the clinical c...

    Authors: Yunfei Li, Xin Yuan, Ruimin Chen, Xiangquan Lin, Huakun Shangguan, Xiaohong Yang and Ying Zhang

    Citation: Orphanet Journal of Rare Diseases 2020 15:273

    Content type: Research

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  5. Desbuquois dysplasia (DBQD) was a rare autosomal recessive skeletal dysplasia. Calcium activated nucleotidase 1 (CANT1) mutation was identified as a common pathogenic change for DBQD type 1 and Kim variant but no...

    Authors: Hong-Dan Wang, Liang-Jie Guo, Zhan-Qi Feng, Da-Wei Zhang, Meng-Ting Zhang, Yue Gao, Chuan-Liang Chen and Bo-Feng Zhu

    Citation: Orphanet Journal of Rare Diseases 2020 15:240

    Content type: Research

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  6. During the COVID-19 outbreak, the European Reference Network on Rare Bone Diseases (ERN BOND) coordination team and Italian rare bone diseases healthcare professionals created the “COVID-19 Helpline for Rare B...

    Authors: E. Brizola, G. Adami, G. I. Baroncelli, M. F. Bedeschi, P. Berardi, S. Boero, M. L. Brandi, L. Casareto, E. Castagnola, P. Fraschini, D. Gatti, S. Giannini, M. V. Gonfiantini, V. Landoni, A. Magrelli, G. Mantovani…

    Citation: Orphanet Journal of Rare Diseases 2020 15:228

    Content type: Position statement

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  7. Genetic contributors to cardiac arrhythmias are often found in cardiovascular conduction pathways and ion channel proteins. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease of massive heter...

    Authors: Samuel Kou, Carmen De Cunto, Geneviève Baujat, Kelly L. Wentworth, Donna R. Grogan, Matthew A. Brown, Maja Di Rocco, Richard Keen, Mona Al Mukaddam, Kim-Hanh le Quan Sang, Umesh Masharani, Frederick S. Kaplan, Robert J. Pignolo and Edward C. Hsiao

    Citation: Orphanet Journal of Rare Diseases 2020 15:193

    Content type: Research

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  8. Disorders of the spine present a common and difficult management concern in patients with skeletal dysplasia. Due to the rarity of these conditions however, the literature, largely consisting of small, single ...

    Authors: Klane K. White, 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 Ravi Savarirayan

    Citation: Orphanet Journal of Rare Diseases 2020 15:161

    Content type: Research

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  9. Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder...

    Authors: Lidiia Zhytnik, Kadri Simm, Andres Salumets, Maire Peters, Aare Märtson and Katre Maasalu

    Citation: Orphanet Journal of Rare Diseases 2020 15:128

    Content type: Review

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  10. Symptomatic spinal stenosis (SSS) is a well-known medical complication in achondroplasia. The reported prevalence of SSS is 10 to 30%, an estimate based on small studies or selected populations. No population-...

    Authors: Svein O. Fredwall, Unni Steen, Olga de Vries, Cecilie F. Rustad, Heidi Beate Eggesbø, Harald Weedon-Fekjær, Ingeborg B. Lidal, Ravi Savarirayan and Grethe Månum

    Citation: Orphanet Journal of Rare Diseases 2020 15:123

    Content type: Research

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2020 15:342

  11. Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal-dominant disease characterized by heterotopic ossification (HO) in soft tissues and caused by a mutation of the ACVR1A/ALK2 gene. Activin-A is a key...

    Authors: Hirotsugu Maekawa, Shunsuke Kawai, Megumi Nishio, Sanae Nagata, Yonghui Jin, Hiroyuki Yoshitomi, Shuichi Matsuda and Junya Toguchida

    Citation: Orphanet Journal of Rare Diseases 2020 15:122

    Content type: Research

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  12. Osteogenesis imperfecta, fibrous dysplasia/McCune-Albright syndrome and X-linked hypophosphatemia are three rare musculoskeletal diseases characterised by bone deformities, frequent fractures and pain. Little ...

    Authors: Gerda Mickute, Kristina Staley, Heather Delaney, Oliver Gardiner, Amy Hunter, Richard Keen, Lorraine Lockhart, Nick Meade, Maria Newman, Stuart Ralston, Elaine Rush, Sheela Upadhyaya, Sandra Regan, Laura Watts, Jennifer Walsh, Paul White…

    Citation: Orphanet Journal of Rare Diseases 2020 15:117

    Content type: Research

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  13. Re-fracture is the most serious complication in congenital pseudarthrosis of the tibia (CPT). There are reports that children with small cross-sectional areas in the sections of the pseudarthrosis are more pro...

    Authors: Yaoxi Liu, Ge Yang, Kun Liu, Jiangyan Wu, Guanghui Zhu, Jin Tang, Yu Zheng and Haibo Mei

    Citation: Orphanet Journal of Rare Diseases 2020 15:62

    Content type: Research

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  14. Hypophosphatasia (HPP) is an inborn error of metabolism characterized by low levels of serum alkaline phosphatase (ALP). Scarce evidence exists about features that should signal the potential association betwe...

    Authors: C. Tornero, V. Navarro-Compán, J. A. Tenorio, S. García-Carazo, A. Buño, I. Monjo, C. Plasencia-Rodriguez, J. M. Iturzaeta, P. Lapunzina, K. E. Heath, A. Balsa and P. Aguado

    Citation: Orphanet Journal of Rare Diseases 2020 15:51

    Content type: Research

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  15. Sensenbrenner syndrome, which is also known as cranioectodermal dysplasia (CED), is a rare, autosomal recessive ciliary chondrodysplasia characterized by a variety of clinical features including a distinctive ...

    Authors: Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska and Anna Wasilewska

    Citation: Orphanet Journal of Rare Diseases 2020 15:36

    Content type: Research

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  16. Children with rare bone diseases (RBDs), whether medically complex or not, raise multiple issues in emergency situations. The healthcare burden of children with RBD in emergency structures remains unknown. The...

    Authors: David Dawei Yang, Geneviève Baujat, Antoine Neuraz, Nicolas Garcelon, Claude Messiaen, Arnaud Sandrin, Gérard Cheron, Anita Burgun, Zagorka Pejin, Valérie Cormier-Daire and François Angoulvant

    Citation: Orphanet Journal of Rare Diseases 2020 15:2

    Content type: Research

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  17. Both mandibular condylar hyperplasia and condylar osteochondroma can lead to maxillofacial skeletal asymmetry and malocclusion, although they exhibit different biological behavior. This study attempted to comp...

    Authors: Jingshuang Yu, Tong Yang, Jiewen Dai and Xudong Wang

    Citation: Orphanet Journal of Rare Diseases 2019 14:293

    Content type: Research

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  19. Congenital pseudarthrosis of the tibia (CPT) is a rare disease. Some patients present neurofibromatosis type 1 (NF1), while some others do not manifest NF1 (non-NF1). The etiology of CPT, particularly non-NF1 ...

    Authors: Guanghui Zhu, Yu Zheng, Yaoxi Liu, An Yan, Zhengmao Hu, Yongjia Yang, Shiting Xiang, Liping Li, Weijian Chen, Yu Peng, Nanbert Zhong and Haibo Mei

    Citation: Orphanet Journal of Rare Diseases 2019 14:221

    Content type: Research

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  20. Osteogenesis imperfecta (OI) is a rare disease leading to hereditary bone fragility. Nearly 90% of cases are caused by mutations in the collagen genes COL1A1/A2 (classical OI) leading to multiple fractures, scoli...

    Authors: Heike Hoyer-Kuhn, Mirko Rehberg, Christian Netzer, Eckhard Schoenau and Oliver Semler

    Citation: Orphanet Journal of Rare Diseases 2019 14:219

    Content type: Research

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  21. Achondroplasia is the most common form of disproportionate short stature and might affect not only the quality of life of the affected child but also that of the parents.

    Authors: Stefanie Witt, Beate Kolb, Janika Bloemeke, Klaus Mohnike, Monika Bullinger and Julia Quitmann

    Citation: Orphanet Journal of Rare Diseases 2019 14:194

    Content type: Research

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  22. Individuals diagnosed with a rare genetic disease that affects skeletal development often have physical limitations and orofacial problems that exert an impact on oral health. The aim of the present study was ...

    Authors: Heloisa Vieira Prado, Natália Cristina Ruy Carneiro, Matheus França Perazzo, Mauro Henrique Nogueira Guimarães de Abreu, Carolina de Castro Martins and Ana Cristina Borges-Oliveira

    Citation: Orphanet Journal of Rare Diseases 2019 14:145

    Content type: Research

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  23. Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues an...

    Authors: Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arundel, Nick Shaw, Valter Dal Pos, Ann Underhil, Deanna Portero, Lisa Heral, Anne-Marie Heegaard, Laura Masi, Fergal Monsell, Robert Stanton…

    Citation: Orphanet Journal of Rare Diseases 2019 14:139

    Content type: Position statement

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2019 14:267

  24. Fibrodysplasia Ossificans Progressiva (FOP; OMIM#135100) is an ultra-rare, severely disabling genetic disease characterized by congenital malformation of the great toes and progressive heterotopic ossification...

    Authors: Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan and Frederick S. Kaplan

    Citation: Orphanet Journal of Rare Diseases 2019 14:98

    Content type: Research

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2019 14:113

  25. Fibrodysplasia ossificans progressiva (FOP), a disabling disorder of progressive heterotopic ossification (HEO), is caused by heterozygous gain-of- function mutations in Activin receptor A, type I (ACVR1, also...

    Authors: Maja Di Rocco, Genevieve Baujat, Marta Bertamino, Matthew Brown, Carmen L. De Cunto, Patricia L. R. Delai, Elisabeth M. W. Eekhoff, Nobuhiko Haga, Edward Hsiao, Richard Keen, Rolf Morhart, Robert J. Pignolo and Frederick S. Kaplan

    Citation: Orphanet Journal of Rare Diseases 2017 12:110

    Content type: Position statement

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  26. Fibrous dysplasia is a rare bone disorder, commonly associated with pain, deformity and fractures, which may significantly impact on quality of life. In this study we evaluate quality of life in patients with ...

    Authors: Bas C. J. Majoor, Cornelie D. Andela, Jens Bruggemann, Michiel A. J. van de Sande, Ad A. Kaptein, Neveen A. T. Hamdy, P. D. Sander Dijkstra and Natasha M. Appelman-Dijkstra

    Citation: Orphanet Journal of Rare Diseases 2017 12:80

    Content type: Research

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  27. Sternocostoclavicular hyperostosis (SCCH; ORPHA178311) is a rare inflammatory disorder of the axial skeleton, the precise pathophysiology of which remains to be established. We addressed the potential associat...

    Authors: Pieter A. Valkema, Clare H. Luymes, Janneke E. Witteveen, Saskia le Cessie, Natasha M. Appelman-Dijkstra, Pancras C. W. Hogendoorn and Neveen A. T. Hamdy

    Citation: Orphanet Journal of Rare Diseases 2017 12:20

    Content type: Research

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  28. Pregnancies of women displaying achondroplasia are at high risk of adverse events. Early sonographic assessment of affected women can indicate an unusually long cervical length. It is the consequence of pathol...

    Authors: Alexandre J. Vivanti, Anne-Gael Cordier, Geneviève Baujat and Alexandra Benachi

    Citation: Orphanet Journal of Rare Diseases 2016 11:166

    Content type: Letter to the Editor

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  30. Ischiospinal dysostosis (ISD) is a polytopic dysostosis characterized by ischial hypoplasia, multiple segmental anomalies of the cervicothoracic spine, hypoplasia of the lumbrosacral spine and occasionally ass...

    Authors: Ekaterina Kuchinskaya, Giedre Grigelioniene, Anna Hammarsjö, Hye-Ran Lee, Lotta Högberg, Gintautas Grigelionis, Ok-Hwa Kim, Gen Nishimura and Tae-Joon Cho

    Citation: Orphanet Journal of Rare Diseases 2016 11:1

    Content type: Letter to the Editor

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  31. A better understanding of the natural history of osteogenesis imperfecta (OI) in adulthood should improve health care for patients with this rare condition.

    Authors: Laura L. Tosi, Matthew E. Oetgen, Marianne K. Floor, Mary Beth Huber, Ann M. Kennelly, Robert J. McCarter, Melanie F. Rak, Barbara J. Simmonds, Melissa D. Simpson, Carole A. Tucker and Fergus E. McKiernan

    Citation: Orphanet Journal of Rare Diseases 2015 10:146

    Content type: Research

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  32. Hajdu Cheney Syndrome (HCS), Orpha 955, is a rare disease characterized by acroosteolysis, severe osteoporosis, short stature, specific craniofacial features, wormian bones, neurological symptoms, cardiovascul...

    Authors: Ernesto Canalis and Stefano Zanotti

    Citation: Orphanet Journal of Rare Diseases 2014 9:200

    Content type: Review

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172