Short Stature

Common Name(s)

Short Stature

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Short Stature" returned 295 free, full-text research articles on human participants. First 3 results:

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.
 

Author(s): Yongguo Yu, RuEn Yao, Lili Wang, Yanjie Fan, Xiaodong Huang, Joel Hirschhorn, Andrew Dauber, Yiping Shen

Journal:

 

Human height is a complex trait with a strong genetic basis. Recently, a significant association between rare copy number variations (CNVs) and short stature has been identified, and candidate genes in these rare CNVs are being explored. This study aims to evaluate the association ...

Last Updated: 17 Sep 2015

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Height-reducing variants and selection for short stature in Sardinia.
 

Author(s): Magdalena Zoledziewska, Carlo Sidore, Charleston W K Chiang, Serena Sanna, Antonella Mulas, Maristella Steri, Fabio Busonero, Joseph H Marcus, Michele Marongiu, Andrea Maschio, Diego Ortega Del Vecchyo, Matteo Floris, Antonella Meloni, Alessandro Delitala, Maria Pina Concas, Federico Murgia, Ginevra Biino, Simona Vaccargiu, Ramaiah Nagaraja, Kirk E Lohmueller, , Nicholas J Timpson, Nicole Soranzo, Ioanna Tachmazidou, George Dedoussis, Eleftheria Zeggini, , Sergio Uzzau, Chris Jones, Robert Lyons, Andrea Angius, Gonçalo R Abecasis, John Novembre, David Schlessinger, Francesco Cucca

Journal: Nat. Genet.. 2015 Nov;47(11):1352-6.

 

We report sequencing-based whole-genome association analyses to evaluate the impact of rare and founder variants on stature in 6,307 individuals on the island of Sardinia. We identify two variants with large effects. One variant, which introduces a stop codon in the GHR gene, is relatively ...

Last Updated: 28 Oct 2015

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Truncation of POC1A associated with short stature and extreme insulin resistance.
 

Author(s): Jian-Hua Chen, Maria Segni, Felicity Payne, Isabel Huang-Doran, Alison Sleigh, Claire Adams, , David B Savage, Stephen O'Rahilly, Robert K Semple, Inês Barroso

Journal: J. Mol. Endocrinol.. 2015 Oct;55(2):147-58.

 

We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three protein products of the gene. ...

Last Updated: 4 Sep 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 "Short Stature" returned 35 free, full-text review articles on human participants. First 3 results:

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature.
 

Author(s): Jan M Wit, Wilma Oostdijk, Monique Losekoot, Hermine A van Duyvenvoorde, Claudia A L Ruivenkamp, Sarina G Kant

Journal: Eur. J. Endocrinol.. 2016 Apr;174(4):R145-73.

 

The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according ...

Last Updated: 23 Feb 2016

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Genetic evaluation of short stature.
 

Author(s): Andrew Dauber, Ron G Rosenfeld, Joel N Hirschhorn

Journal: J. Clin. Endocrinol. Metab.. 2014 Sep;99(9):3080-92.

 

Genetics plays a major role in determining an individual's height. Although there are many monogenic disorders that lead to perturbations in growth and result in short stature, there is still no consensus as to the role that genetic diagnostics should play in the evaluation of a child ...

Last Updated: 6 Sep 2014

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The etiology of short stature affects the clinical outcome of lower limb lengthening using external fixation. A systematic review of 18 trials involving 547 patients.
 

Author(s): Seung-Ju Kim, Wendy Pierce, Sanjeev Sabharwal

Journal: Acta Orthop. 2014 Apr;85(2):181-6.

 

Distraction osteogenesis (DO) has been used to gain height in short statured individuals. However, there have been no studies comparing the clinical outcome of limb lengthening based on the etiology of the short stature. We assessed whether different underlying diagnoses are associated ...

Last Updated: 21 Mar 2014

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Symptoms, Diagnosis, and Treatment

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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: 2 Jun 2016

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IGF-1 Treatment for Individuals With Short Stature Due to PAPP-A2 Deficiency
 

Status: Not yet recruiting

Condition Summary: Short Stature

 

Last Updated: 16 Dec 2015

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