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

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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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
 

Author(s): Caroline Alby, Kevin Piquand, Céline Huber, André Megarbané, Amale Ichkou, Marine Legendre, Fanny Pelluard, Ferechté Encha-Ravazi, Georges Abi-Tayeh, Bettina Bessières, Salima El Chehadeh-Djebbar, Nicole Laurent, Laurence Faivre, László Sztriha, Melinda Zombor, Hajnalka Szabó, Marion Failler, Meriem Garfa-Traore, Christine Bole, Patrick Nitschké, Mathilde Nizon, Nadia Elkhartoufi, Françoise Clerget-Darpoux, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans, Sophie Saunier, Valérie Cormier-Daire, Tania Attié-Bitach, Sophie Thomas

Journal: Am. J. Hum. Genet.. 2015 Aug;97(2):311-8.

 

KIAA0586, the human ortholog of chicken TALPID3, is a centrosomal protein that is essential for primary ciliogenesis. Its disruption in animal models causes defects attributed to abnormal hedgehog signaling; these defects include polydactyly and abnormal dorsoventral patterning of ...

Last Updated: 8 Aug 2015

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Copper and magnesium deficiencies in patients with short bowel syndrome receiving parenteral nutrition or oral feeding.
 

Author(s): Camila Bitu Moreno Braga, Iahel Manon de Lima Ferreira, Júlio Sérgio Marchini, Selma Freire de Carvalho da Cunha

Journal: Arq Gastroenterol. ;52(2):94-9.

 

Patients with short bowel syndrome have significant fluid and electrolytes loss.

Last Updated: 4 Jun 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 38 free, full-text review articles on human participants. First 3 results:

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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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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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: 10 Nov 2015

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Last Updated: 17 Aug 2010

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