SHORT syndrome

Common Name(s)

SHORT syndrome

SHORT syndrome is a condition characterized by multiple abnormalities that affect several parts of the body. The term SHORT is an acronym with each letter representing a common feature in affected individuals: (S) short stature; (H) hyperextensibility of joints and/or hernia (inguinal); (O) ocular depression (deep-set eyes); (R) Rieger anomaly (defective development of the anterior chamber of the eye that can lead to glaucoma); and (T) teething delay. Other features commonly present include a triangular face, small chin with a dimple, loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech. The condition appears to be inherited in an autosomal dominant manner. Treatment focuses on the specific symptoms present in each individual.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "SHORT syndrome" for support, advocacy or research.

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Lipodystrophy United

​Lipodystrophy United is an organization of committed individuals living strong with Lipodystrophy. Our mission is to provide an interactive community, facilitating support & education for anyone affected by this rare disease. We serve as a resource & to increase awareness in the general population as well as the medical & insurance communities. We advocate & act as a catalyst for new patient diagnosis by assisting healthcare professionals in understanding Lipodystrophy trends, physical attributes & clinical symptoms in order to aid in the advancement of knowledge, treatment & future research.

Last Updated: 30 Nov 2014

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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 "SHORT syndrome" for support, advocacy or research.

Logo
Lipodystrophy United

​Lipodystrophy United is an organization of committed individuals living strong with Lipodystrophy. Our mission is to provide an interactive community, facilitating support & education for anyone affected by this rare disease. We serve as a resource & to increase awareness in the general population as well as the medical & insurance communities. We advocate & act as a catalyst for new patient diagnosis by assisting healthcare professionals in understanding Lipodystrophy trends, physical attributes & clinical symptoms in order to aid in the advancement of knowledge, treatment & future research.

http://www.lipodystrophyunited.org/

Last Updated: 30 Nov 2014

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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 "SHORT syndrome" returned 410 free, full-text research articles on human participants. First 3 results:

Is jejunostomy output nutrient or waste in short bowel syndrome? Experience from six cases.
 

Author(s): Ming-Yi Liu, Hsiu-Chih Tang, Hui-Lan Yang, Sue-Joan Chang

Journal: Asia Pac J Clin Nutr. 2016 ;25(2):430-5.

 

Certain patients who undergo proximal jejunum resection are unable to undergo primary anastomosis and require exteriorization of the proximal jejunum. These patients usually have major problems with short bowel due to the high output of the stoma. The output of a proximal jejunostomy ...

Last Updated: 25 May 2016

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Impact of Obstructive Sleep Apnea on the Levels of Placental Growth Factor (PlGF) and Their Value for Predicting Short-Term Adverse Outcomes in Patients with Acute Coronary Syndrome.
 

Author(s): Antonia Barcelo, Josep Miquel Bauça, Aina Yañez, Laura Fueyo, Cristina Gomez, Monica de la Peña, Javier Pierola, Alberto Rodriguez, Manuel Sanchez-de-la-Torre, Jorge Abad, Olga Mediano, Jose Amilibia, Maria Jose Masdeu, Joaquin Teran, Josep Maria Montserrat, Mercè Mayos, Alicia Sanchez-de-la-Torre, Ferran Barbé,

Journal:

 

Placental growth factor (PlGF) induces angiogenesis and promotes tissue repair, and plasma PlGF levels change markedly during acute myocardial infarction (AMI). Currently, the impact of obstructive sleep apnea (OSA) in patients with AMI is a subject of debate. Our objective was to ...

Last Updated: 2 Mar 2016

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[The association between red cell distribution width (RDW) and short-term mortality risk in patients with acute coronary syndrome (ACS)].
 

Author(s): Alejandro Rosas-Cabral, Jesús Antonio Viana-Rojas, Jorge Prieto-Macías, María del Carmen Terrones-Saldívar, Rafael Gutiérrez-Campos, Silvia Denise Ponce-Campos, José de Jesús de Lara-Castañeda

Journal: Gac Med Mex. ;152(1):70-7.

 

To demonstrate the association between red cell distribution width and short-term mortality risk in patients with acute coronary syndrome.

Last Updated: 1 Mar 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 syndrome" returned 41 free, full-text review articles on human participants. First 3 results:

Effectiveness of Short Term Percutaneous Tibial Nerve Stimulation for Non-neurogenic Overactive Bladder Syndrome in Adults: A Meta-analysis.
 

Author(s): Elita Wibisono, Harrina E Rahardjo

Journal: Acta Med Indones. 2015 Jul;47(3):188-200.

 

to evaluate the effectiveness of short-term PTNS for non-neurogenic OAB in adults systematically by comparing with sham procedure and other treatments.

Last Updated: 20 Nov 2015

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A Case Report of Catatonia and Neuroleptic Malignant Syndrome With Multiple Treatment Modalities: Short Communication and Literature Review.
 

Author(s): Yu-Jie Chiou, Yu Lee, Chin-Chuen Lin, Tiao-Lai Huang

Journal: Medicine (Baltimore). 2015 Oct;94(43):e1752.

 

We describe a case with complicated clinical presentations who was difficult to treat. We described the possible etiologies and differential diagnosis of neuroleptic malignant syndrome (NMS), catatonia, and infection, in details. This patient was also referred to neuro-intensive care ...

Last Updated: 30 Oct 2015

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Animal models of gastrointestinal and liver diseases. Animal models of infant short bowel syndrome: translational relevance and challenges.
 

Author(s): Per T Sangild, Denise M Ney, David L Sigalet, Andreas Vegge, Douglas Burrin

Journal: Am. J. Physiol. Gastrointest. Liver Physiol.. 2014 Dec;307(12):G1147-68.

 

Intestinal failure (IF), due to short bowel syndrome (SBS), results from surgical resection of a major portion of the intestine, leading to reduced nutrient absorption and need for parenteral nutrition (PN). The incidence is highest in infants and relates to preterm birth, necrotizing ...

Last Updated: 16 Dec 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Use of DPP-4 Inhibitors in Short Bowel Syndrome
 

Status: Recruiting

Condition Summary: Short Bowel Syndrome

 

Last Updated: 10 Jan 2016

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A Prospective, Multi-center Registry for Patients With Short Bowel Syndrome
 

Status: Recruiting

Condition Summary: Short Bowel Syndrome

 

Last Updated: 9 Nov 2016

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Short Bowel Syndrome Research Study for Children Up To 17 Years of Age on Parenteral Nutrition
 

Status: Recruiting

Condition Summary: Short Bowel Syndrome

 

Last Updated: 17 Oct 2016

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