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

Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism.
 

Author(s): Lorna A Mullan, Ewa J Mularczyk, Louise H Kung, Mitra Forouhan, Jordan Ma Wragg, Royston Goodacre, John F Bateman, Eileithyia Swanton, Michael D Briggs, Raymond P Boot-Handford

Journal: J. Clin. Invest.. 2017 Oct;127(10):3861-3865.

 

The short-limbed dwarfism metaphyseal chondrodysplasia type Schmid (MCDS) is linked to mutations in type X collagen, which increase ER stress by inducing misfolding of the mutant protein and subsequently disrupting hypertrophic chondrocyte differentiation. Here, we show that carbamazepine ...

Last Updated: 18 Sep 2017

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Epigenetic aging signatures in mice livers are slowed by dwarfism, calorie restriction and rapamycin treatment.
 

Author(s): Tina Wang, Brian Tsui, Jason F Kreisberg, Neil A Robertson, Andrew M Gross, Michael Ku Yu, Hannah Carter, Holly M Brown-Borg, Peter D Adams, Trey Ideker

Journal:

 

Global but predictable changes impact the DNA methylome as we age, acting as a type of molecular clock. This clock can be hastened by conditions that decrease lifespan, raising the question of whether it can also be slowed, for example, by conditions that increase lifespan. Mice are ...

Last Updated: 29 Mar 2017

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Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
 

Author(s): John J Reynolds, Louise S Bicknell, Paula Carroll, Martin R Higgs, Ranad Shaheen, Jennie E Murray, Dimitrios K Papadopoulos, Andrea Leitch, Olga Murina, Žygimantė Tarnauskaitė, Sarah R Wessel, Anastasia Zlatanou, Audrey Vernet, Alex von Kriegsheim, Rachel M A Mottram, Clare V Logan, Hannah Bye, Yun Li, Alexander Brean, Sateesh Maddirevula, Rachel C Challis, Kassiani Skouloudaki, Agaadir Almoisheer, Hessa S Alsaif, Ariella Amar, Natalie J Prescott, Michael B Bober, Angela Duker, Eissa Faqeih, Mohammed Zain Seidahmed, Saeed Al Tala, Abdulrahman Alswaid, Saleem Ahmed, Jumana Yousuf Al-Aama, Janine Altmüller, Mohammed Al Balwi, Angela F Brady, Luciana Chessa, Helen Cox, Rita Fischetto, Raoul Heller, Bertram D Henderson, Emma Hobson, Peter Nürnberg, E Ferda Percin, Angela Peron, Luigina Spaccini, Alan J Quigley, Seema Thakur, Carol A Wise, Grace Yoon, Maha Alnemer, Pavel Tomancak, Gökhan Yigit, A Malcolm R Taylor, Martin A M Reijns, Michael A Simpson, David Cortez, Fowzan S Alkuraya, Christopher G Mathew, Andrew P Jackson, Grant S Stewart

Journal: Nat. Genet.. 2017 Apr;49(4):537-549.

 

To ensure efficient genome duplication, cells have evolved numerous factors that promote unperturbed DNA replication and protect, repair and restart damaged forks. Here we identify downstream neighbor of SON (DONSON) as a novel fork protection factor and report biallelic DONSON mutations ...

Last Updated: 13 Feb 2017

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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

Last Updated: 17 Jul 2017

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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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