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

Serial transverse enteroplasty to facilitate enteral autonomy in selected children with short bowel syndrome.
 

Author(s): T Wester, H Borg, H Naji, P Stenström, G Westbacke, H E Lilja

Journal: Br J Surg. 2014 Sep;101(10):1329-33.

 

Serial transverse enteroplasty (STEP) was first described in 2003 as a method for lengthening and tapering of the bowel in short bowel syndrome. The aim of this multicentre study was to review the outcome of a Swedish cohort of children who underwent STEP.

Last Updated: 12 Aug 2014

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Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.
 

Author(s): Clea Bárcena, Víctor Quesada, Annachiara De Sandre-Giovannoli, Diana A Puente, Joaquín Fernández-Toral, Sabine Sigaudy, Anwar Baban, Nicolas Lévy, Gloria Velasco, Carlos López-Otín

Journal:

 

SHORT syndrome is a rare autosomal dominant condition whose name is the acronym of short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay (MIM 269880). Additionally, the patients usually present a low birth weight and height, lipodystrophy, ...

Last Updated: 4 Jun 2014

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Short-term intake of a Japanese-style healthy lunch menu contributes to prevention and/or improvement in metabolic syndrome among middle-aged men: a non-randomized controlled trial.
 

Author(s): Hiroko Inoue, Ryosuke Sasaki, Izumi Aiso, Toshiko Kuwano

Journal:

 

Metabolic syndrome is now widely appreciated as a cluster of metabolic abnormalities such as visceral obesity, hypertension, hyperglycemia and dyslipidemia. To date, incidence of metabolic syndrome is continuously increasing worldwide.In addition, low vegetable consumption has recently ...

Last Updated: 2 Apr 2014

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

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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SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.
 

Author(s): David A Parry, Clare V Logan, Alexander P A Stegmann, Zakia A Abdelhamed, Alistair Calder, Shabana Khan, David T Bonthron, Virginia Clowes, Eamonn Sheridan, Neeti Ghali, Albert E Chudley, Angus Dobbie, Constance T R M Stumpel, Colin A Johnson

Journal: Am. J. Hum. Genet.. 2013 Dec;93(6):1135-42.

 

Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) has been reported previously to be a rare, autosomal-recessive developmental disorder with other, unique rhizomelic skeletal anomalies. These include bilateral humeral hypoplasia, humeroscapular ...

Last Updated: 9 Dec 2013

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Cushing's syndrome: a structured short- and long-term management plan for patients in remission.
 

Author(s): Oskar Ragnarsson, Gudmundur Johannsson

Journal:

 

One hundred years have passed since Harvey Williams Cushing presented the first patient with the syndrome that bears his name. In patients with Cushing's syndrome (CS), body composition and lipid, carbohydrate and protein metabolism are dramatically affected and psychopathology and ...

Last Updated: 7 Oct 2013

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 6 Nov 2014

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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 Dec 2014

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Enteral Glutamine in Reducing Bloodstream Infections in Short Bowel Syndrome Infants
 

Status: Recruiting

Condition Summary: Bloodstream Infections; Short Bowel Syndrome; Development; Nutrition; Biological Markers

 

Last Updated: 5 May 2014

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