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 121 free, full-text research articles on human participants. First 3 results:

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
 

Author(s): Margaret E Harley, Olga Murina, Andrea Leitch, Martin R Higgs, Louise S Bicknell, Gökhan Yigit, Andrew N Blackford, Anastasia Zlatanou, Karen J Mackenzie, Kaalak Reddy, Mihail Halachev, Sarah McGlasson, Martin A M Reijns, Adeline Fluteau, Carol-Anne Martin, Simone Sabbioneda, Nursel H Elcioglu, Janine Altmüller, Holger Thiele, Lynn Greenhalgh, Luciana Chessa, Mohamad Maghnie, Mahmoud Salim, Michael B Bober, Peter Nürnberg, Stephen P Jackson, Matthew E Hurles, Bernd Wollnik, Grant S Stewart, Andrew P Jackson

Journal: Nat. Genet.. 2016 Jan;48(1):36-43.

 

DNA lesions encountered by replicative polymerases threaten genome stability and cell cycle progression. Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitin ligase, in patients with microcephalic primordial dwarfism. We establish that TRAIP relocalizes ...

Last Updated: 29 Dec 2015

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Case report: Anesthesia management for emergency cesarean section in a patient with dwarfism.
 

Author(s): Xiaoxi Li, Hongjun Duan, Mingzhang Zuo

Journal:

 

Dwarfism is characterized by short stature. Pregnancy in women with dwarfism is uncommon and cesarean section is generally indicated for delivery. Patients with dwarfism are high-risk population for both general and regional anesthesia, let alone in an emergency surgery.

Last Updated: 14 May 2015

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Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
 

Author(s): Jennie E Murray, Mirjam van der Burg, Hanna IJspeert, Paula Carroll, Qian Wu, Takashi Ochi, Andrea Leitch, Edward S Miller, Boris Kysela, Alireza Jawad, Armand Bottani, Francesco Brancati, Marco Cappa, Valerie Cormier-Daire, Charu Deshpande, Eissa A Faqeih, Gail E Graham, Emmanuelle Ranza, Tom L Blundell, Andrew P Jackson, Grant S Stewart, Louise S Bicknell

Journal: Am. J. Hum. Genet.. 2015 Mar;96(3):412-24.

 

Non-homologous end joining (NHEJ) is a key cellular process ensuring genome integrity. Mutations in several components of the NHEJ pathway have been identified, often associated with severe combined immunodeficiency (SCID), consistent with the requirement for NHEJ during V(D)J recombination ...

Last Updated: 9 Mar 2015

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Role of Igf-1 Generation Test in Diagnosis and Treatment of Short Stature
 

Status: Not yet recruiting

Condition Summary: Short Stature

 

Last Updated: 25 Oct 2013

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Short Stature Related Distress
 

Status: Recruiting

Condition Summary: Idiopathic Short Stature; Self Image

 

Last Updated: 26 Nov 2015

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Last Updated: 9 Dec 2014

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