Dwarfism

Common Name(s)

Dwarfism

Dwarfism is a condition that is characterized by short stature, usually resulting in an adult height of 4'10" or shorter.  Dwarfism can and most often does occur in families where both parents are of average height. It can be caused by any one of more than 300 conditions, most of which are genetic. The most common type, accounting for 70% of all cases of short stature, is called achondroplasia. Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. Dwarfism itself is not a disease; however, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and a normal life expectancy.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Fibrous Dysplasia Foundation

The Fibrous Dysplasia Foundation provides information, advocacy and support for patients, medical professionals and the general public and promote research for diagnosis, treatment and a cure for Fibrous Dysplasia (FD) and McCune-Albright's Syndrome (MAS), Cherubism and related diseases. Our goal is to improve the quality of life for affected individuals and their families.

Last Updated: 12 Dec 2012

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Fibrous Dysplasia Foundation

The Fibrous Dysplasia Foundation provides information, advocacy and support for patients, medical professionals and the general public and promote research for diagnosis, treatment and a cure for Fibrous Dysplasia (FD) and McCune-Albright's Syndrome (MAS), Cherubism and related diseases. Our goal is to improve the quality of life for affected individuals and their families.

http://www.fibrousdysplasia.org/

Last Updated: 12 Dec 2012

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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 "Dwarfism" returned 127 free, full-text research articles on human participants. First 3 results:

Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.
 

Author(s): Honghao Zhang, Nobuhiro Kamiya, Takehito Tsuji, Haruko Takeda, Greg Scott, Sudha Rajderkar, Manas K Ray, Yoshiyuki Mochida, Benjamin Allen, Veronique Lefebvre, Irene H Hung, David M Ornitz, Tetsuo Kunieda, Yuji Mishina

Journal:

 

Ellis-van Creveld (EvC) syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka ...

Last Updated: 27 Dec 2016

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Catalytically Active Guanylyl Cyclase B Requires Endoplasmic Reticulum-mediated Glycosylation, and Mutations That Inhibit This Process Cause Dwarfism.
 

Author(s): Deborah M Dickey, Aaron B Edmund, Neil M Otto, Thomas S Chaffee, Jerid W Robinson, Lincoln R Potter

Journal: J. Biol. Chem.. 2016 May;291(21):11385-93.

 

C-type natriuretic peptide activation of guanylyl cyclase B (GC-B), also known as natriuretic peptide receptor B or NPR2, stimulates long bone growth, and missense mutations in GC-B cause dwarfism. Four such mutants (L658F, Y708C, R776W, and G959A) bound (125)I-C-type natriuretic ...

Last Updated: 26 May 2016

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Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.
 

Author(s): Anne B Krøigård, Andrew P Jackson, Louise S Bicknell, Emma Baple, Klaus Brusgaard, Lars K Hansen, Lilian B Ousager

Journal: Clin. Dysmorphol.. 2016 Apr;25(2):68-72.

 

Last Updated: 1 Mar 2016

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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 "Dwarfism" returned 5 free, full-text review articles on human participants. First 3 results:

Mechanisms and pathways of growth failure in primordial dwarfism.
 

Author(s): Anna Klingseisen, Andrew P Jackson

Journal: Genes Dev.. 2011 Oct;25(19):2011-24.

 

The greatest difference between species is size; however, the developmental mechanisms determining organism growth remain poorly understood. Primordial dwarfism is a group of human single-gene disorders with extreme global growth failure (which includes Seckel syndrome, microcephalic ...

Last Updated: 7 Oct 2011

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Successful treatment of dwarfism secondary to long-term steroid therapy in steroid-dependent nephrotic syndrome.
 

Author(s): Linlin Sun, Dongping Chen, Xuezhi Zhao, Chenggang Xu, Changlin Mei

Journal: Intern. Med.. 2010 ;49(14):1417-21.

 

Prolonged steroid therapy is generally used for steroid-dependent nephrotic syndrome in pediatric patients. However, dwarfism secondary to a long-term regimen and its successful reverse is rarely reported. The underlying mechanism of dwarfism is still poorly understood, as both long-term ...

Last Updated: 21 Jul 2010

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Treatment of dwarfism with recombinant human insulin-like growth factor-1.
 

Author(s): Michael B Ranke, Joachim Wölfle, Dirk Schnabel, Markus Bettendorf

Journal: Dtsch Arztebl Int. 2009 Oct;106(43):703-9.

 

The growth hormone-IGF (insulin-like growth factor) system plays a central role in hormonal growth regulation. Recombinant human (rh) growth hormone (GH) has been available since the late 1980s for replacement therapy in GH-deficient patients and for the stimulation of growth in patients ...

Last Updated: 30 Nov 2009

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Short Stature Related Distress
 

Status: Recruiting

Condition Summary: Idiopathic Short Stature; Self Image

 

Last Updated: 10 Jan 2017

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Last Updated: 9 Dec 2014

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Fitness Level in Short Stature Children and After Growth Hormone Treatment
 

Status: Not yet recruiting

Condition Summary: Fitness

 

Last Updated: 27 Nov 2016

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