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

Last Updated: 20 Nov 2015

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Short-Term Prognosis of Mechanically Ventilated Patients With Guillain-Barré Syndrome Is Worsened by Corticosteroids as an Add-On Therapy.
 

Author(s): Xiujuan Wu, Bing Zhang, Chunrong Li, Donghui Shen, Kangding Liu, Jie Zhu, Hong-Liang Zhang

Journal: Medicine (Baltimore). 2015 Oct;94(43):e1898.

 

Intravenous immunoglobulin (IVIg) has been proven most effective in treating Guillain-Barré syndrome (GBS). Corticosteroids as an add-on therapy have been prescribed in severe GBS cases. However, the efficacy of intravenous corticosteroids combined with IVIg in dealing with severe ...

Last Updated: 30 Oct 2015

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Predictors for mechanical ventilation and short-term prognosis in patients with Guillain-Barré syndrome.
 

Author(s): Xiujuan Wu, Chunrong Li, Bing Zhang, Donghui Shen, Ting Li, Kangding Liu, Hong-Liang Zhang

Journal:

 

Guillain-Barré syndrome (GBS) is an immune-mediated disorder of the peripheral nervous system. Respiratory failure requiring mechanical ventilation (MV) is a serious complication of GBS. Identification of modifiable risk factors for MV and poor short-term prognosis in mechanically ...

Last Updated: 2 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 syndrome" returned 40 free, full-text review articles on human participants. First 3 results:

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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Video-assisted Thoracoscopic Resection of a Giant Bulla in Vanishing Lung Syndrome: case report and a short literature review.
 

Author(s): Kobe Van Bael, Mark La Meir, Hans Vanoverbeke

Journal:

 

A 36-year-old Caucasian man was admitted to our hospital with acute onset of left-sided chest pain. Computed Tomography confirmed the presence of a giant bulla on the apex of the lower lobe of the left lung. A video-assisted thoracic surgery (VATS) with bullectomy was performed using ...

Last Updated: 29 Jan 2014

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Symptoms, Diagnosis, and Treatment

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

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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

Status: Not yet recruiting

Condition Summary: Short Bowel Syndrome

 

Last Updated: 6 Apr 2016

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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: 17 Mar 2016

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