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

Novel subtype of congenital partial lipodystrophy with mandibular hypoplasia, sensorineural deafness and short stature of unknown genetic origin.
 

Author(s): Haruka Sasaki, Kumiko Ohkubo, Kunihisa Kobayashi, Yuji Tajiri, Satoshi Ugi, Atsunori Kashwagi

Journal: J Diabetes Investig. 2017 Jan;8(1):121-122.

 

The unique clinical manifestations of congenital partial lipodystrophy are herein reported due to its rarity.

Last Updated: 5 Jan 2017

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Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.
 

Author(s): Servi J C Stevens, Anthonie J van Essen, Conny M A van Ravenswaaij, Abdallah F Elias, Jaclyn A Haven, Stefan H Lelieveld, Rolph Pfundt, Willy M Nillesen, Helger G Yntema, Kees van Roozendaal, Alexander P Stegmann, Christian Gilissen, Han G Brunner

Journal:

 

Krüppel-type zinc finger genes (ZNF) constitute a large yet relatively poorly characterized gene family. ZNF genes encode proteins that recognize specific DNA motifs in gene promotors. They act as transcriptional co-activators or -repressors via interaction with chromatin remodeling ...

Last Updated: 14 Dec 2016

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Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report.
 

Author(s): Apiruk Sangsin, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk

Journal:

 

Heterozygous mutations in COL2A1 create a spectrum of clinical entities called type II collagenopathies that range from in utero lethal to relatively mild conditions which become apparent only during adulthood. We aimed to characterize the clinical, radiological, and molecular features ...

Last Updated: 13 Dec 2016

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

Challenges in the Management of Short Stature.
 

Author(s): Jesús Argente

Journal: Horm Res Paediatr. 2016 ;85(1):2-10.

 

Human growth, from fetal life to adolescence, is dynamic and a good marker of health. Growth is a complex process influenced by genetic, hormonal, nutritional and environmental factors, both pre- and postnatally. To date, no international agreement regarding normal height has been ...

Last Updated: 2 Feb 2016

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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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Short and tall stature: a new paradigm emerges.
 

Author(s): Jeffrey Baron, Lars Sävendahl, Francesco De Luca, Andrew Dauber, Moshe Phillip, Jan M Wit, Ola Nilsson

Journal: Nat Rev Endocrinol. 2015 Dec;11(12):735-46.

 

In the past, the growth hormone (GH)-insulin-like growth factor 1 (IGF-1) axis was often considered to be the main system that regulated childhood growth and, therefore, determined short stature and tall stature. However, findings have now revealed that the GH-IGF-1 axis is just one ...

Last Updated: 20 Nov 2015

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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

Short Stature Related Distress
 

Status: Recruiting

Condition Summary: Idiopathic Short Stature; Self Image

 

Last Updated: 10 Jan 2017

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Aromatase Inhibitor Growth Study: Letrozole vs. Anastrozole
 

Status: Recruiting

Condition Summary: Short Stature

 

Last Updated: 17 Nov 2014

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