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

Spectrum of Disproportionate Short Stature at a Tertiary-care Center in Northern India.
 

Author(s): Ankur Singh, Gaurav Pradhan, Rajniti Prasad, Om Prakash Mishra, Seema Kapoor

Journal: Indian Pediatr. 2017 Nov;54(11):971-972.

 

Forty cases with disproportionate short stature (median age 3.1 y; 24 males) from genetic clinic of Lok Nayak Hospital, Delhi were assessed in this study. Achondroplasia was the commonest (n=9) skeletal dysplasia; conclusive diagnosis was not possible in six children. Molecular confirmation ...

Last Updated: 31 Dec 1969

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Impact of single nucleotide polymorphism on short stature and reduced tongue pressure among community-dwelling elderly Japanese participants: a cross-sectional study.
 

Author(s): Yuji Shimizu, Shimpei Sato, Yuko Noguchi, Jun Koyamatsu, Hirotomo Yamanashi, Miho Higashi, Mako Nagayoshi, Koichiro Kadota, Shin-Ya Kawashiri, Yasuhiro Nagata, Noboru Takamura, Takahiro Maeda

Journal:

 

Asian-specific single nucleotide polymorphism (SNPs) (rs3782886) is reported to be associated with myocardial infarction; sarcopenia is reported to be associated with coronary subclinical atherosclerosis. On the other hand, short stature has been revealed as an independent risk factor ...

Last Updated: 31 Dec 1969

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PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
 

Author(s): Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson

Journal: Eur. J. Hum. Genet.. 2017 05;25(5):552-559.

 

PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac ...

Last Updated: 31 Dec 1969

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

The use of aromatase inhibitors in boys with short stature: what to know before prescribing?
 

Author(s): Alessandra Linardi, Durval Damiani, Carlos A Longui

Journal: Arch Endocrinol Metab. ;61(4):391-397.

 

Aromatase is a cytochrome P450 enzyme (CYP19A1 isoform) able to catalyze the conversion of androgens to estrogens. The aromatase gene mutations highlighted the action of estrogen as one of the main regulators of bone maturation and closure of bone plate. The use of aromatase inhibitors ...

Last Updated: 31 Dec 1969

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New Genetic Diagnoses of Short Stature Provide Insights into Local Regulation of Childhood Growth
.
 

Author(s): Anenisia C Andrade, Youn Hee Jee, Ola Nilsson

Journal: Horm Res Paediatr. 2017 ;88(1):22-37.

 

Idiopathic short stature is a common condition with a heterogeneous etiology. Advances in genetic methods, including genome sequencing techniques and bioinformatics approaches, have emerged as important tools to identify the genetic defects in families with monogenic short stature. ...

Last Updated: 31 Dec 1969

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CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.
 

Author(s): Magalie S Leduc, Zhiyv Niu, Weimin Bi, Wenmiao Zhu, Irene Miloslavskaya, Theodore Chiang, Haley Streff, John R Seavitt, Stephen A Murray, Christine Eng, Audrey Chan, Yaping Yang, Seema R Lalani

Journal: Am. J. Med. Genet. A. 2016 Aug;170(8):2206-11.

 

Mutations in CRIPT encoding cysteine-rich PDZ domain-binding protein are rare, and to date have been reported in only two patients with autosomal recessive primordial dwarfism and distinctive facies. Here, we describe a female with biallelic mutations in CRIPT presenting with postnatal ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 17 Jul 2017

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Growth Hormone Treatment in Patients With Aggrecan (ACAN) Deficiency
 

Status: Recruiting

Condition Summary: Short Stature

 

Last Updated: 9 Apr 2018

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