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

Genomic analysis of primordial dwarfism reveals novel disease genes.
 

Author(s): Ranad Shaheen, Eissa Faqeih, Shinu Ansari, Ghada Abdel-Salam, Zuhair N Al-Hassnan, Tarfa Al-Shidi, Rana Alomar, Sameera Sogaty, Fowzan S Alkuraya

Journal: Genome Res.. 2014 Feb;24(2):291-9.

 

Primordial dwarfism (PD) is a disease in which severely impaired fetal growth persists throughout postnatal development and results in stunted adult size. The condition is highly heterogeneous clinically, but the use of certain phenotypic aspects such as head circumference and facial ...

Last Updated: 3 Feb 2014

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Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.
 

Author(s): Hanna IJspeert, Adilia Warris, Michiel van der Flier, Ismail Reisli, Sevgi Keles, Sandra Chishimba, Jacques J M van Dongen, Dik C van Gent, Mirjam van der Burg

Journal: Hum. Mutat.. 2013 Dec;34(12):1611-4.

 

DNA double-strand break repair via non-homologous end joining (NHEJ) is involved in recombination of immunoglobulin and T-cell receptor genes. Mutations in NHEJ components result in syndromes that are characterized by microcephaly and immunodeficiency. We present a patient with lymphopenia, ...

Last Updated: 14 Nov 2013

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Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
 

Author(s): Andrew Dauber, Stephen H Lafranchi, Zoltan Maliga, Julian C Lui, Jennifer E Moon, Cailin McDeed, Katrin Henke, Jonathan Zonana, Garrett A Kingman, Tune H Pers, Jeffrey Baron, Ron G Rosenfeld, Joel N Hirschhorn, Matthew P Harris, Vivian Hwa

Journal: J. Clin. Endocrinol. Metab.. 2012 Nov;97(11):E2140-51.

 

Microcephalic primordial dwarfism (MPD) is a rare, severe form of human growth failure in which growth restriction is evident in utero and continues into postnatal life. Single causative gene defects have been identified in a number of patients with MPD, and all involve genes fundamental ...

Last Updated: 6 Nov 2012

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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 W├Âlfle, 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 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: 4 May 2014

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Evaluation and Intervention for the Effects of Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Dwarfism; Osteogenesis Imperfecta

 

Last Updated: 14 Mar 2014

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