Skip to main content

Advertisement

Rare bone diseases and skeletal dysplasias

  1. 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

    Published on:

  2. 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

    Published on:

  3. 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

    Published on:

  4. 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

    Published on:

  5. 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

    Published on:

  7. 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

    Published on:

  8. 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

    Published on:

  9. 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

    Published on:

  10. 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

    Published on:

  11. 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

    Published on:

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

  12. 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

    Published on:

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

  13. 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

    Published on:

  14. 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

    Published on:

  15. 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

    Published on:

  16. 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

    Published on:

  18. 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

    Published on:

  19. 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

    Published on:

  20. 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

    Published on:

Advertisement

Orphanet Journal of Rare Diseases

ISSN: 1750-1172