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

Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report.
 

Author(s): C Goecke, C Mellado, C García, H García

Journal: Rev Chil Pediatr. 2018 Feb;89(1):107-112.

 

Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the ...

Last Updated: 31 Dec 1969

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Psychometric properties and measurement equivalence of the Multidimensional Fatigue Syndrome Inventory- Short Form (MFSI-SF) amongst breast cancer and lymphoma patients in Singapore.
 

Author(s): Alexandre Chan, Claire Lew, Xiao Jun Wang, Terence Ng, Jung-Woo Chae, Hui Ling Yeo, Maung Shwe, Yan Xiang Gan

Journal:

 

Currently, several fatigue measurement instruments are available to evaluate and measure cancer-related fatigue. Amongst them, Multidimensional Fatigue Syndrome Inventory-Short Form (MFSI-SF) is a self-reported instrument and a multidimensional scale that aims to capture the global, ...

Last Updated: 31 Dec 1969

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Factors Associated With Response to Teduglutide in Patients With Short-Bowel Syndrome and Intestinal Failure.
 

Author(s): Palle B Jeppesen, Simon M Gabe, Douglas L Seidner, Hak-Myung Lee, Clément Olivier

Journal: Gastroenterology. 2018 03;154(4):874-885.

 

Clinical studies showed teduglutide to increase urine production and reduce need for parenteral support volume in patients with short bowel syndrome (SBS) with intestinal failure, increasing intestinal wet weight absorption and reducing diarrhea. However, the effects of teduglutide ...

Last Updated: 31 Dec 1969

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

Short- and long-term prognostic value of hyponatremia in patients with acute coronary syndrome: A systematic review and meta-analysis.
 

Author(s): Qiang-Qiang Ma, Xiu-De Fan, Tao Li, Yuan-Yuan Hao, Feng Ma

Journal:

 

Hyponatremia is relevant to heart failure, liver cirrhosis and stroke, but the prognostic value of serum sodium levels in patients with acute coronary syndrome are still unclear. So we did a systematic review and meta-analysis to assess the prognostic value of hyponatremia on adverse ...

Last Updated: 31 Dec 1969

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SHORT syndrome in a two-year-old girl - case report.
 

Author(s): Maria Klatka, Izabela Rysz, Katarzyna Kozyra, Agnieszka Polak, Witold Kołłątaj

Journal:

 

SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown.

Last Updated: 31 Dec 1969

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Extracorporeal membrane oxygenation for avian influenza A (H7N9) patient with acute respiratory distress syndrome: a case report and short literature review.
 

Author(s): Qi Nie, Ding-Yu Zhang, Wen-Juan Wu, Chao-Lin Huang, Zheng-Yi Ni

Journal:

 

Extracorporeal membrane oxygenation (ECMO) is performed as an acceptable life-saving bridging procedure in patients with severe acute respiratory distress syndrome (ARDS).To patients with avian influenza A (H7N9)-associated ARDS, ECMO could be adopted as a feasible therapeutic solution. ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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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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Last Updated: 18 Jun 2018

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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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