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

A case of osteomalacia due to deranged mineral balance caused by saccharated ferric oxide and short-bowel syndrome: A case report.
 

Author(s): Hiroshi Nomoto, Hideaki Miyoshi, Akinobu Nakamura, So Nagai, Naoyuki Kitao, Chikara Shimizu, Tatsuya Atsumi

Journal: Medicine (Baltimore). 2017 Sep;96(39):e8147.

 

Saccharated ferric oxide has been shown to lead to elevation of fibroblast growth factor 23, hypophosphatemia, and, consequently, osteomalacia. Moreover, mineral imbalance is often observed in patients with short-bowel syndrome to some degree.

Last Updated: 27 Sep 2017

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In silico assessment of the effects of quinidine, disopyramide and E-4031 on short QT syndrome variant 1 in the human ventricles.
 

Author(s): Cunjin Luo, Kuanquan Wang, Henggui Zhang

Journal:

 

Short QT syndrome (SQTS) is an inherited disorder associated with abnormally abbreviated QT intervals and an increased incidence of atrial and ventricular arrhythmias. SQT1 variant (linked to the rapid delayed rectifier potassium channel current, IKr) of SQTS, results from an inactivation-attenuated, ...

Last Updated: 20 Jun 2017

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Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria.
 

Author(s): Dominic G Whittaker, Haibo Ni, Aziza El Harchi, Jules C Hancox, Henggui Zhang

Journal:

 

Gain-of-function mutations in KCNJ2-encoded Kir2.1 channels underlie variant 3 (SQT3) of the short QT syndrome, which is associated with atrial fibrillation (AF). Using biophysically-detailed human atria computer models, this study investigated the mechanistic link between SQT3 mutations ...

Last Updated: 13 Jun 2017

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

Treatment of short bowel syndrome in children. Value of the Intestinal Rehabilitation Program.
 

Author(s): Uenis Tannuri, Fabio de Barros, Ana Cristina Aoun Tannuri

Journal: Rev Assoc Med Bras (1992). 2016 Sep;62(6):575-583.

 

The main cause of acute intestinal failure is short bowel syndrome, generally as a result of resection of extensive segments of small intestine. As a result, the main symptoms are watery diarrhea, malabsorption syndrome, chronic malnutrition, and death, if the patient is not properly ...

Last Updated: 16 Nov 2016

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A short review of drug-food interactions of medicines treating overactive bladder syndrome.
 

Author(s): Paweł Paśko, Tomasz Rodacki, Renata Domagała-Rodacka, Danuta Owczarek

Journal: Int J Clin Pharm. 2016 Dec;38(6):1350-1356.

 

Background Overactive bladder syndrome is a condition where one or more of the symptoms such as pollakiuria, urgent need to urinate, nocturia and urinary incontinence is observed. Its prevalence ranges between 7 and 27 % in men and 9-43 % in women. The role of a pharmacist is to ...

Last Updated: 14 Oct 2016

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[Consanguineous marriage and morbi-mortality, short literature review based on an exceptional association: Usher syndrome and Von Recklinghausen neurofibromatosis].
 

Author(s): Pépin-Williams Atipo-Tsiba

Journal:

 

Usher syndrome is defined by the association of a progressive or non-progressive congenital sensorineural hearing loss with variable severity and a gradually blinding pigmentary retinopathy. Von Recklinghausen neurofibromatosis or Neurofibromatosis type 1 is the major clinically form ...

Last Updated: 27 May 2016

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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: 5 Dec 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: 5 Jan 2017

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Use of Pancreatic Enzymes in Short Bowel Syndrome
 

Status: Recruiting

Condition Summary: Short Bowel Syndrome

 

Last Updated: 14 Aug 2017

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