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.

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.

Last Updated: 30 Nov 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Association between short sleep and body mass index, hypertension among acute coronary syndrome patients in coronary care unit.
 

Author(s): Elham Sepahvand, Rostam Jalali, Maryam Mirzaei, Marzieh Kargar Jahromi

Journal:

 

Patients with coronary diseases admitted to special care unit often suffer from sleep disorders, which may cause physiological changes and adversely affect patient's health. The relationship between sleep disorders and obesity is an important factor in studies on sleep disorders and ...

Last Updated: 7 May 2015

Go To URL
EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.
 

Author(s): Chuan Li, Rongyu Chen, Xin Fan, Jingsi Luo, Jiale Qian, Jin Wang, Bobo Xie, Yiping Shen, Shaoke Chen

Journal:

 

Waardenburg syndrome type I (WS1), an auditory-pigmentary genetic disorder, is caused by heterozygous loss-of-function mutations in PAX3. Abnormal physical signs such as dystopia canthorum, patchy hypopigmentation and sensorineural hearing loss are common, but short stature is not ...

Last Updated: 1 May 2015

Go To URL
Effects of different parenteral nutrition infusions in a patient with short bowel syndrome.
 

Author(s): Chia-Chee Weng, Yun Chen

Journal: Asia Pac J Clin Nutr. 2015 ;24(1):184-7.

 

In this case study, we demonstrate the effects of different lipid emulsions on liver function in a 52-year-old woman with short bowel syndrome who was totally dependent on parenteral nutrition. Over a 13-month period after small bowel resection and jejunostomy, we followed the patient's ...

Last Updated: 5 Mar 2015

Go To URL

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 32 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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

A Prospective, Multi-center Registry for Patients With Short Bowel Syndrome
 

Status: Recruiting

Condition Summary: Short Bowel Syndrome

 

Last Updated: 8 Jun 2015

Go to URL

Last Updated: 17 Aug 2010

Go to URL

Last Updated: 19 Mar 2015

Go to URL