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Rare bone diseases and skeletal dysplasias

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  1. Rare bone diseases (RBDs) are a set of inherited rare diseases that can cause disability and have a devastating impact on families affected, which may lead to a particular high prevalence of psychological diso...

    Authors: Xuefeng Lai, Yuling Jiang, Yue Sun, Zhijun Zhang and Shengfeng Wang
    Citation: Orphanet Journal of Rare Diseases 2023 18:18
  2. Despite optimal conventional treatment (oral phosphate supplements and active vitamin D analogs), about 40–50% of children with well-controlled X-linked hypophosphatemia (XLH) show linear growth failure, makin...

    Authors: Julia André, Volha V. Zhukouskaya, Anne-Sophie Lambert, Jean-Pierre Salles, Brigitte Mignot, Claire Bardet, Catherine Chaussain, Anya Rothenbuhler and Agnès Linglart
    Citation: Orphanet Journal of Rare Diseases 2022 17:444
  3. Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) may cause pain, impaired ambulation and decreased quality of life (QoL). International guidelines advocate management of FD/MAS in a tertiary multidisciplina...

    Authors: Maartje E. Meier, Marlous Hagelstein-Rotman, Annenienke C. van de Ven, Ingrid C. M. Van der Geest, Olav Donker, Sarina E. C. Pichardo, Petra C. E. Hissink Muller, Stijn W. van der Meeren, Desirée M. J. Dorleijn, Elizabeth M. Winter, Michiel A. J. van de Sande and Natasha M. Appelman-Dijkstra
    Citation: Orphanet Journal of Rare Diseases 2022 17:439
  4. The most frequent manifestation in adult hypophosphatasia (HPP) is musculoskeletal pain. The unspecific nature of its clinical presentation may prevent correct diagnosis. The aim of the study was to assess the...

    Authors: Julia Feurstein, Martina Behanova, Judith Haschka, Katharina Roetzer, Gökhan Uyanik, Benjamin Hadzimuratovic, Martina Witsch-Baumgartner, Georg Schett, Jochen Zwerina and Roland Kocijan
    Citation: Orphanet Journal of Rare Diseases 2022 17:435
  5. Fetal skeletal dysplasia (SD) is a common congenital disability comprising a complex group of skeletal disorders with substantial clinical and genetic heterogeneity. Many of these defects are detected prenatal...

    Authors: Ying Bai, Yue Sun, Ning Liu, Li Wang, Zhihui Jiao, Yaqin Hou, Huikun Duan, Qianqian Li, Xiaofan Zhu, Jingjing Meng and Xiangdong Kong
    Citation: Orphanet Journal of Rare Diseases 2022 17:410
  6. Although Osteogenesis Imperfecta (OI) affects the connective tissue, pulmonary function might be compromised because of thoracic deformities. OI is known to be a restrictive lung disease, but spirometry provid...

    Authors: Antonella LoMauro, Davide Lacca, Vittorio Landoni and Andrea Aliverti
    Citation: Orphanet Journal of Rare Diseases 2022 17:397
  7. Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by progressive heterotopic ossification (HO) in soft tissues due to a heterozygous mutation of the ACVR1A gene (FOP-ACVR1A), ...

    Authors: Hirotsugu Maekawa, Yonghui Jin, Megumi Nishio, Shunsuke Kawai, Sanae Nagata, Takeshi Kamakura, Hiroyuki Yoshitomi, Akira Niwa, Megumu K. Saito, Shuichi Matsuda and Junya Toguchida
    Citation: Orphanet Journal of Rare Diseases 2022 17:364
  8. Fibrodysplasia ossificans progressiva (FOP) is an ultrarare condition and one of the most impactful disorders associated with progressive heterotopic ossification events. It is estimated that there are 120–150...

    Authors: Alessandro Rozim Zorzi, Patricia R. Delai, Henrique L. C. Rosa, Wander E. Brito, Victor A. M. Montalli, Juliana C. Napimoga, Marcelo H. Napimoga and Francisco H. Nociti Jr.
    Citation: Orphanet Journal of Rare Diseases 2022 17:348
  9. Achondroplasia is a genetic condition that can cause complications across the lifespan. While complications in childhood are well documented, the natural history of achondroplasia in adults has, until recently...

    Authors: Svein Fredwall, Yana Allum, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Silvio Boero, Valerie Cormier-Daire, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa and Michael Wright
    Citation: Orphanet Journal of Rare Diseases 2022 17:318
  10. Achondroplasia is the most common form of skeletal dysplasia, with serious comorbidities and complications that may occur from early infancy to adulthood, requiring lifelong management from a multidisciplinary...

    Authors: Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B. Sousa and Klaus Mohnike
    Citation: Orphanet Journal of Rare Diseases 2022 17:293
  11. Osteogenesis imperfecta (OI) is a rare congenital disorder of the skeletal system, inflicting debilitating physical and psychological distress on patients and caregivers. Over the decades, much effort has been...

    Authors: Peikai Chen, Zhijia Tan, Anmei Qiu, Shijie Yin, Yapeng Zhou, Zhongxin Dong, Yan Qiu, Jichun Xu, Kangsen Li, Lina Dong, Hiu Tung Shek, Jingwen Liu, Eric H. K. Yeung, Bo Gao, Kenneth Man Chee Cheung and Michael Kai-Tsun To
    Citation: Orphanet Journal of Rare Diseases 2022 17:249
  12. X-linked early-onset osteoporosis, caused by mutations in plastin3 (PLS3), is an extremely rare disease characterized by low bone mineral density (BMD) and recurrent osteoporotic fractures. There is limited in...

    Authors: Zhichong Wu, Zhenhua Feng, Xiufen Zhu, Zhicheng Dai, Kaixing Min, Yong Qiu, Long Yi, Leilei Xu and Zezhang Zhu
    Citation: Orphanet Journal of Rare Diseases 2022 17:247
  13. This study aimed to identify fit-for-purpose clinical outcome assessments (COAs) to evaluate physical function, as well as social and emotional well-being in clinical trials enrolling a pediatric population wi...

    Authors: Natalie V. J. Aldhouse, Helen Kitchen, Chloe Johnson, Chris Marshall, Hannah Pegram, Sheryl Pease, Sam Collins, Christine L. Baker, Katherine Beaverson, Chandler Crews, Jill Massey and Kathleen W. Wyrwich
    Citation: Orphanet Journal of Rare Diseases 2022 17:182
  14. Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. Peer support is mandatory to fill the lack of c...

    Authors: Hélène Warnier, Christophe Barrea, Sarah Bethlen, Isabelle Schrouff and Julie Harvengt
    Citation: Orphanet Journal of Rare Diseases 2022 17:174
  15. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, disabling genetic disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification of soft and connect...

    Authors: Robert J. Pignolo, Christopher Bedford-Gay, Amanda Cali, Michelle Davis, Patricia L. R. Delai, Kristi Gonzales, Candace Hixson, Alastair Kent, Hope Newport, Manuel Robert, Christiaan Scott and Frederick S. Kaplan
    Citation: Orphanet Journal of Rare Diseases 2022 17:168
  16. Deep learning methods have great potential to predict tumor characterization, such as histological diagnosis and genetic aberration. The objective of this study was to evaluate and validate the predictive perf...

    Authors: Yuhan Yang, Yin Zhou, Chen Zhou and Xuelei Ma
    Citation: Orphanet Journal of Rare Diseases 2022 17:158
  17. Skeletal deformity is characterized by an abnormal anatomical structure of bone and cartilage. In our previous studies, we have found that a substantial proportion of patients with skeletal deformity could be ...

    Authors: Lian Liu, Liying Sun, Yujun Chen, Muchuan Wang, Chenxi Yu, Yingzhao Huang, Sen Zhao, Huakang Du, Shaoke Chen, Xin Fan, Wen Tian, Zhihong Wu, Guixing Qiu, Terry Jianguo Zhang and Nan Wu
    Citation: Orphanet Journal of Rare Diseases 2022 17:139
  18. Legg–Calvé–Perthes Disease (LCPD) is a necrosis of the femoral head which affects the range of motion of the hips. Its incidence is variable, ranging from 0.4/100,000 to 29.0/ 100,000 children. Although LCPD w...

    Authors: Armando O. Rodríguez-Olivas, Edgar Hernández-Zamora and Elba Reyes-Maldonado
    Citation: Orphanet Journal of Rare Diseases 2022 17:125
  19. COVID-19, caused by the SARS-CoV-2 virus, is a severe inflammatory condition. Patients with pre-existing conditions including diabetes, hypertension, and cardiovascular disease are at particularly high risk of...

    Authors: Samuel Kou, Sammi Kile, Sai Samhith Kambampati, Evelyn C. Brady, Hayley Wallace, Carlos M. De Sousa, Kin Cheung, Lauren Dickey, Kelly L. Wentworth and Edward C. Hsiao
    Citation: Orphanet Journal of Rare Diseases 2022 17:107
  20. Individuals with pathogenic variants in SATB2 display intellectual disability, speech and behavioral disorders, dental abnormalities and often features of Pierre Robin sequence. SATB2 encodes a transcription fact...

    Authors: M. Mouillé, M. Rio, S. Breton, M. L. Piketty, A. Afenjar, J. Amiel, Y. Capri, A. Goldenberg, C. Francannet, C. Michot, C. Mignot, L. Perrin, C. Quelin, J. Van Gils, G. Barcia, V. Pingault…
    Citation: Orphanet Journal of Rare Diseases 2022 17:100
  21. Hypophosphatasia (HPP) is a rare and underdiagnosed condition characterized by deficient bone and teeth mineralization. The aim of this study was first, to evaluate the diagnostic utility of employing alkaline...

    Authors: C. Tornero, V. Navarro-Compán, A. Buño, K. E. Heath, M. Díaz-Almirón, A. Balsa, J. A. Tenorio, J. Quer and P. Aguado
    Citation: Orphanet Journal of Rare Diseases 2022 17:98
  22. Accurate measurement of any constructs in clinical studies is of critical importance, especially if the adoption of an intervention relies on detecting a significant treatment effect where one exists. Under Ne...

    Authors: Ravi Jandhyala
    Citation: Orphanet Journal of Rare Diseases 2022 17:81
  23. Secondary peripheral chondrosarcomas arising in solitary osteochondromas is an unusual complication, reported in small series. In this study, we aimed to present our experience with this rare variant of chondr...

    Authors: Alberto Righi, Marina Pacheco, Stefania Cocchi, Sofia Asioli, Marco Gambarotti, Davide Maria Donati, Andrea Evangelista, Maria Gnoli, Manuela Locatelli, Marina Mordenti, Manila Boarini, Evelise Brizola, Elena Pedrini and Luca Sangiorgi
    Citation: Orphanet Journal of Rare Diseases 2022 17:74
  24. Pregnancy and breastfeeding are associated with bone density loss. Fracture occurrence during pregnancy and post-partum, and its determinants, remain poorly known in Osteogenesis Imperfecta (OI). The aim of th...

    Authors: Eugénie Koumakis, Valérie Cormier-Daire, Azeddine Dellal, Marc Debernardi, Bernard Cortet, Françoise Debiais, Rose-Marie Javier, Thierry Thomas, Nadia Mehsen-Cetre, Martine Cohen-Solal, Elisabeth Fontanges, Michel Laroche, Valérie Porquet-Bordes, Christian Marcelli, Alexandra Benachi, Karine Briot…
    Citation: Orphanet Journal of Rare Diseases 2022 17:22
  25. Achondroplasia (ACH), the most common form of disproportionate short stature, is caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene. Recent advances in drug therapy for ACH have hig...

    Authors: Virginia Fano, Chong A. Kim, Pablo Rosselli, Regina El Dib, Renée Shediac, Tatiana Magalhães, Debora Mesojedovas and Juan Llerena Jr
    Citation: Orphanet Journal of Rare Diseases 2022 17:4
  26. Achondroplasia is the most common genetic skeletal disorder causing disproportionate short stature/dwarfism. Common additional features include spinal stenosis, midface retrusion, macrocephaly and a generalize...

    Authors: Julie E. Hoover-Fong, Kerry J. Schulze, Adekemi Y. Alade, Michael B. Bober, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria E. Serna, Cory Smid, Chengxin Liu and John McGready
    Citation: Orphanet Journal of Rare Diseases 2021 16:522
  27. New opportunities have arisen for development of therapies for rare diseases with the increased focus and progress in the field. However, standardised framework integrating individual initiatives has not been ...

    Authors: Mattias Rudebeck, Ciarán Scott, Nicholas P. Rhodes, Christa van Kan, Birgitta Olsson, Mohammed Al-sbou, Anthony K. Hall, Nicolas Sireau and Lakshminarayan R. Ranganath
    Citation: Orphanet Journal of Rare Diseases 2021 16:510
  28. 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
  29. 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
  30. Tissue-nonspecific alkaline phosphatase (TNSALP) encoded by the ALPL gene is of particular importance for bone mineralization. Mutation in the ALPL gene can lead to persistent low ALP activity resulting in the...

    Authors: Tobias Schmidt, Constantin Schmidt, Michael Amling, Jan Kramer and Florian Barvencik
    Citation: Orphanet Journal of Rare Diseases 2021 16:452
  31. Although Osteogenesis Imperfecta (OI) affects the connective tissue causing extremely brittle bones with consequent skeletal deformities, it is important to go beyond bones. Indeed, the quality of life in OI d...

    Authors: Antonella LoMauro, Carlo Vittorio Landoni, Paolo Fraschini, Franco Molteni, Andrea Aliverti, Simona Bertoli and Ramona De Amicis
    Citation: Orphanet Journal of Rare Diseases 2021 16:435
  32. Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasi...

    Authors: Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo and Tero-Pekka Alastalo
    Citation: Orphanet Journal of Rare Diseases 2021 16:412

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:59

  33. Osteomyelitis variolosa is a self-limiting disease triggered by variola virus that cannot be prevented or repaired. Smallpox has been eradicated for 40 years, and complications that remain after smallpox has b...

    Authors: Jinshuo Tang, Pu Shao, Te Liu, Xinggui Wen, Yeliang Wang, Chenyu Wang, Yachen Peng, Hua Yao and Jianlin Zuo
    Citation: Orphanet Journal of Rare Diseases 2021 16:354
  34. Currently, there is limited research on how having a child diagnosed with achondroplasia affects parents’ lives. The purpose of the study was to investigate the experiences of parents of infants and young chil...

    Authors: Kathryn M. Pfeiffer, Meryl Brod, Alden Smith, Dorthe Viuff, Sho Ota and R. Will Charlton
    Citation: Orphanet Journal of Rare Diseases 2021 16:351
  35. Fibrodysplasia ossificans progressiva (FOP), an ultra-rare, progressive, and permanently disabling disorder of extraskeletal ossification, is characterized by episodic and painful flare-ups and irreversible he...

    Authors: Robert J. Pignolo, Edward C. Hsiao, Genevieve Baujat, David Lapidus, Adam Sherman and Frederick S. Kaplan
    Citation: Orphanet Journal of Rare Diseases 2021 16:350
  36. Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (FGFR3). The management of achondroplasia is multifaceted, requiri...

    Authors: Valerie Cormier-Daire, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Sérgio Bernardo de Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin and Klaus Mohnike
    Citation: Orphanet Journal of Rare Diseases 2021 16:333
  37. Little is known about the spectrum of everyday challenges that people with skeletal dysplasia face because of their health and functioning. We aimed to identify factors related to health, functioning and disab...

    Authors: Heidi Anttila, Susanna Tallqvist, Minna Muñoz, Sanna Leppäjoki-Tiistola, Outi Mäkitie and Sinikka Hiekkala
    Citation: Orphanet Journal of Rare Diseases 2021 16:236
  38. Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, the...

    Authors: Angela L. Duker, Dagmar Kinderman, Christy Jordan, Tim Niiler, Carissa M. Baker-Smith, Louise Thompson, David A. Parry, Ricki S. Carroll and Michael B. Bober
    Citation: Orphanet Journal of Rare Diseases 2021 16:231
  39. Previous studies have found a high prevalence of obstructive sleep apnea (OSA) in children with achondroplasia, but clinical studies on this complication in adults with achondroplasia are lacking.

    Authors: Svein O. Fredwall, Britt Øverland, Hanne Berdal, Søren Berg, Harald Weedon-Fekjær, Ingeborg B. Lidal, Ravi Savarirayan and Grethe Månum
    Citation: Orphanet Journal of Rare Diseases 2021 16:156
  40. Osteogenesis Imperfecta (OI) is a genetic disorder also known as ‘brittle bone disease’. The clinical manifestation of OI shows a wide variation. Therefore, care for patients with OI requires an interdisciplin...

    Authors: Wouter Nijhuis, Anton Franken, Kara Ayers, Chantal Damas, Lars Folkestad, Antonella Forlino, Paolo Fraschini, Claire Hill, Guus Janus, Richard Kruse, Lena Lande Wekre, Lieve Michiels, Kathleen Montpetit, Leonardo Panzeri, Valerie Porquet-Bordes, Frank Rauch…
    Citation: Orphanet Journal of Rare Diseases 2021 16:140
  41. X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets and growth retardation are the m...

    Authors: Enrique Rodríguez-Rubio, Helena Gil-Peña, Sara Chocron, Leire Madariaga, Francisco de la Cerda-Ojeda, Marta Fernández-Fernández, Carmen de Lucas-Collantes, Marta Gil, María Isabel Luis-Yanes, Inés Vergara, Juan David González-Rodríguez, Susana Ferrando, Montserrat Antón-Gamero, Marta Carrasco Hidalgo-Barquero, Angustias Fernández-Escribano, Mº Ángeles Fernández-Maseda…
    Citation: Orphanet Journal of Rare Diseases 2021 16:104

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:154

  42. Cervical myelopathy and hydrocephalus occasionally occur in young children with achondroplasia. However, these conditions are not evaluated in a timely manner in many cases. The current study presents signifi...

    Authors: Youngbo Shim, Jung Min Ko, Tae-Joon Cho, Seung‐Ki Kim and Ji Hoon Phi
    Citation: Orphanet Journal of Rare Diseases 2021 16:81
  43. 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
  44. 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
  45. 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
  46. 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
  47. 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
  48. 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
  49. 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