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

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "SHORT syndrome" 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 syndrome" returned 327 free, full-text research articles on human participants. First 3 results:

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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Off label pharmacological therapy in patients with short bowel syndrome.
 

Author(s): B Z Godoy, J Faintuch, M L M Marin, M A Nogueira, V B Pinto, W M Pollara

Journal: Eur Rev Med Pharmacol Sci. 2013 Dec;17(24):3285-90.

 

Short bowel syndrome is a disabling disease requiring long-term nutritional support and ancillary drugs. Aiming to analyze the most commonly prescribed drugs, a retrospective analysis was conducted is an outpatient cohort.

Last Updated: 31 Dec 2013

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Short-term combined treatment with liraglutide and metformin leads to significant weight loss in obese women with polycystic ovary syndrome and previous poor response to metformin.
 

Author(s): Mojca Jensterle Sever, Tomaz Kocjan, Marija Pfeifer, Nika Aleksandra Kravos, Andrej Janez

Journal:

 

The effect of metformin on weight reduction in polycystic ovary syndrome (PCOS) is often unsatisfactory. In this study, we investigated the potential add-on effect of treatment with the glucagon-like peptide-1 receptor agonist liraglutide on weight loss in obese nondiabetic women ...

Last Updated: 10 Feb 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 33 free, full-text review articles on human participants. First 3 results:

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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Congenital short QT syndrome: landmarks of the newest arrhythmogenic cardiac channelopathy.
 

Author(s): Andrés Ricardo Pérez Riera, Adail Paixão-Almeida, Raimundo Barbosa-Barros, Frank G Yanowitz, Adrian Baranchuk, Sergio Dubner, Antônio Carlos Palandri Chagas

Journal: Cardiol J. 2013 ;20(5):464-71.

 

Congenital or familial short QT syndrome is a genetically heterogeneous cardiac channelopathy without structural heart disease that has a dominant autosomal or sporadic pattern of transmission affecting the electric system of the heart. Patients present clinically with a spectrum ...

Last Updated: 3 Dec 2013

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Energy Metabolism in Patients With Short Bowel Syndrome
 

Status: Recruiting

Condition Summary: Short Bowel Syndrome

 

Last Updated: 10 Apr 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: 26 Aug 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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