Skeletal dysplasia

Common Name(s)

Skeletal dysplasia

Skeletal dysplasia refers to a group of disorders causing abnormal bone and cartilage growth. There are more than 350 types of skeletal dysplasias, ranging in severity from having minimal effects on daily life to being universally fatal. Skeletal dysplasias are the most common causes of dwarfism. Skeletal dysplasia occurs in about 0.02% of all births, although the symptoms are typically not noticeable until later in childhood. Skeletal dysplasia may be caused by inherited genes, random mutations or changes in genes, or exposure to toxins that disrupt normal skeletal development.

Common symptoms of skeletal dysplasia include joint pain, clubbed feet, scoliosis, and short fingers. Individuals affected by skeletal dysplasia will often have shortened height, shortened or differing bone lengths in the arms and legs, and irregular thickness of bones. Skeletal dysplasia may also cause bones to become curved (bowed) or easily fractured. Other common symptoms include abnormal ribs, missing limbs, too many fingers or toes, and a small thorax, which is the area between the neck and the abdomen. Improper bone growth may also delay development and impair mental functioning. Children diagnosed with skeletal dysplasia should be examined by specialists to ensure healthy development of the brain and spinal cord.

Diagnosis of skeletal dysplasia may be difficult until after childhood growth may be assessed. Comparing the size of the upper and lower limbs of the body may help determine the presence of abnormalities. Medical imaging and genetic testing are also used to diagnose skeletal dysplasia. Treatment for skeletal dysplasia depends on the subtype and symptoms affecting the individual. Fatal forms will result in premature death, while other forms will allow the individual to live a normal life with minimal treatment or intervention. If you or your child has been diagnosed with skeletal dysplasia, talk to your doctor about the most current treatment options.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Skeletal dysplasia" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Skeletal dysplasia" returned 79 free, full-text research articles on human participants. First 3 results:

Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.
 

Author(s): Jing Chen, Xiaomin Ma, Yulin Zhou, Guimei Li, Qiwei Guo

Journal:

 

Mutations in the COL2A1 gene cause type II collagenopathies characterized by skeletal dysplasia with a wide spectrum of phenotypic severity. Most COL2A1 mutations located in the triple-helical region, and the glycine to bulky amino acid substitutions (e.g., glycine to serine) in the ...

Last Updated: 31 Dec 1969

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mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
 

Author(s): Stefano Volpi, Yasuhiro Yamazaki, Patrick M Brauer, Ellen van Rooijen, Atsuko Hayashida, Anne Slavotinek, Hye Sun Kuehn, Maja Di Rocco, Carlo Rivolta, Ileana Bortolomai, Likun Du, Kerstin Felgentreff, Lisa Ott de Bruin, Kazutaka Hayashida, George Freedman, Genni Enza Marcovecchio, Kelly Capuder, Prisni Rath, Nicole Luche, Elliott J Hagedorn, Antonella Buoncompagni, Beryl Royer-Bertrand, Silvia Giliani, Pietro Luigi Poliani, Luisa Imberti, Kerry Dobbs, Fabienne E Poulain, Alberto Martini, John Manis, Robert J Linhardt, Marita Bosticardo, Sergio Damian Rosenzweig, Hane Lee, Jennifer M Puck, Juan Carlos Zúñiga-Pflücker, Leonard Zon, Pyong Woo Park, Andrea Superti-Furga, Luigi D Notarangelo

Journal: J. Exp. Med.. 2017 Mar;214(3):623-637.

 

We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan sulfate (HS) biosynthesis. Patient-derived ...

Last Updated: 31 Dec 1969

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Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
 

Author(s): Machteld M Oud, Paul Tuijnenburg, Maja Hempel, Naomi van Vlies, Zemin Ren, Sacha Ferdinandusse, Machiel H Jansen, René Santer, Jessika Johannsen, Chiara Bacchelli, Marielle Alders, Rui Li, Rosalind Davies, Lucie Dupuis, Catherine M Cale, Ronald J A Wanders, Steven T Pals, Louise Ocaka, Chela James, Ingo Müller, Kai Lehmberg, Tim Strom, Hartmut Engels, Hywel J Williams, Phil Beales, Ronald Roepman, Patricia Dias, Han G Brunner, Jan-Maarten Cobben, Christine Hall, Taila Hartley, Polona Le Quesne Stabej, Roberto Mendoza-Londono, E Graham Davies, Sérgio B de Sousa, Davor Lessel, Heleen H Arts, Taco W Kuijpers

Journal: Am. J. Hum. Genet.. 2017 Feb;100(2):281-296.

 

EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). By whole-exome sequencing, we identified homozygous missense mutations c.1382C>T, c.1537C>T, c.1970A>G, and c.2008T>G ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Skeletal dysplasia" returned 6 free, full-text review articles on human participants. First 3 results:

Advances in Skeletal Dysplasia Genetics.
 

Author(s): Krista A Geister, Sally A Camper

Journal: Annu Rev Genomics Hum Genet. 2015 ;16():199-227.

 

Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature. They occur in approximately 1/5,000 births, and some are lethal. Since the most recent publication of the Nosology and Classification of Genetic ...

Last Updated: 31 Dec 1969

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Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.
 

Author(s): Sang Sun Kang, Sung Hwa Shin, Chung-Kyoon Auh, Jaesun Chun

Journal: Exp. Mol. Med.. 2012 Dec;44(12):707-22.

 

The transient receptor potential vanilloid 4 (TRPV4) cation channel, a member of the TRP vanilloid subfamily, is expressed in a broad range of tissues where it participates in the generation of Ca²⁺ signals and/or depolarization of the membrane potential. Regulation of TRPV4 abundance ...

Last Updated: 31 Dec 1969

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Diagnostic use of skeletal survey in suspected skeletal dysplasia.
 

Author(s): Amith Kumar Iynapillai Veeramani, Paul Higgins, Sandra Butler, Malcolm Donaldson, Elizabeth Dougan, Roderick Duncan, Victoria Murday, Syed Fasial Ahmed

Journal: J Clin Res Pediatr Endocrinol. 2009 ;1(6):270-4.

 

To review the practice of skeletal surveys in cases of suspected skeletal dysplasia.

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History of Atypical Morquio A Disease
 

Status: Not yet recruiting

Condition Summary: Mucopolysaccharidosis IV A

 

Last Updated: 29 Jun 2017

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Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them?
 

Status: Recruiting

Condition Summary: Morquio Disease; MPS - Mucopolysaccharidosis

 

Last Updated: 10 May 2017

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A Multicenter, Multinational, Observational Morquio A Registry Study (MARS)
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis IV Type A; Morquio A Syndrome; MPS IVA

 

Last Updated: 1 Feb 2018

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