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Rare bone diseases and skeletal dysplasias

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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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

  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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

  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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
  43. 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

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

  44. 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
  45. 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
  46. 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
  47. 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
  48. 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
  49. 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