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

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
 

Author(s): Lindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, Jason R Willer, Erica E Davis, Dorien Lugtenberg, Wenmiao Zhu, Magalie S Leduc, Zeynep C Akdemir, Mahshid Azamian, Gladys Zapata, Patricia P Hernandez, Jeroen Schoots, Sonja A de Munnik, Ronald Roepman, Jillian N Pearring, Shalini Jhangiani, Nicholas Katsanis, Lisenka E L M Vissers, Han G Brunner, Arthur L Beaudet, Jill A Rosenfeld, Donna M Muzny, Richard A Gibbs, Christine M Eng, Fan Xia, Seema R Lalani, James R Lupski, Ernie M H F Bongers, Yaping Yang

Journal: Am. J. Hum. Genet.. 2015 Dec;97(6):904-13.

 

Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five genes encoding pre-replication complex proteins: ORC1, ORC4, ORC6, CDT1, and CDC6. Mutations in these genes cause disruption ...

Last Updated: 7 Dec 2015

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RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
 

Author(s): Hanan Shamseldin, Anas M Alazami, Melanie Manning, Amal Hashem, Oana Caluseiu, Brahim Tabarki, Edward Esplin, Susan Schelley, A Micheil Innes, Jillian S Parboosingh, Ryan Lamont, , Jacek Majewski, Francois P Bernier, Fowzan S Alkuraya

Journal: Am. J. Hum. Genet.. 2015 Dec;97(6):862-8.

 

Primary microcephaly is a developmental brain anomaly that results from defective proliferation of neuroprogenitors in the germinal periventricular zone. More than a dozen genes are known to be mutated in autosomal-recessive primary microcephaly in isolation or in association with ...

Last Updated: 7 Dec 2015

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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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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 6 free, full-text review articles on human participants. First 3 results:

Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
 

Author(s): Asuman Koparir, Omer F Karatas, Betul Yuceturk, Bayram Yuksel, Ali O Bayrak, Omer F Gerdan, Mahmut S Sagiroglu, Alper Gezdirici, Koray Kirimtay, Ece Selcuk, Arzu Karabay, Chad J Creighton, Adnan Yuksel, Mustafa Ozen

Journal: Hum. Mol. Genet.. 2015 Oct;24(19):5378-87.

 

POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and is associated with short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome. These main features are related to the defect in cell proliferation of chondrocytes in growth plate. ...

Last Updated: 16 Sep 2015

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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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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

Short Stature Related Distress
 

Status: Recruiting

Condition Summary: Idiopathic Short Stature; Self Image

 

Last Updated: 2 Jun 2016

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Last Updated: 9 Dec 2014

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