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

Short bowel syndrome caused by laparoscopic loop enterostomy of the jejunum in an adult with undiagnosed intestinal malrotation: A case report.
 

Author(s): Yin-Chen Hsu, Li-Sheng Hsu, Wen-Shih Huang, Jun-Cheng Weng, Chien-Wei Chen

Journal: Medicine (Baltimore). 2018 Oct;97(40):e12712.

 

Failure to recognize intestinal malrotation in adults can cause complications during surgeries, especially those with a limited operative field. We report a case of short bowel syndrome caused by mistaken creation of a loop enterostomy in the jejunum due to undiagnosed intestinal malrotation.

Last Updated: 31 Dec 1969

Go To URL
Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series.
 

Author(s): Constanza Navarro Moreno, Amaury Delestienne, Etienne Marbaix, Selda Aydin, Konstanze Hörtnagel, Sarah Lechner, Yves Sznajer, Véronique Beauloye, Dominique Maiter, Philippe A Lysy

Journal: Horm Res Paediatr. 2018 ;89(6):423-433.

 

Cushing syndrome (CS) is a rare disease in children, frequently associated with subtle or periodic symptoms that may delay its diagnosis. Weight gain and growth failure, the hallmarks of hypercortisolism in pediatrics, may be inconsistent, especially in ACTH-independent forms of CS. ...

Last Updated: 31 Dec 1969

Go To URL
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

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 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

Go To URL
Short- and long-term clinical outcomes of use of beta-interferon or glatiramer acetate for people with clinically isolated syndrome: a systematic review of randomised controlled trials and network meta-analysis.
 

Author(s): X Armoiry, A Kan, G J Melendez-Torres, R Court, P Sutcliffe, P Auguste, J Madan, C Counsell, A Clarke

Journal: J. Neurol.. 2018 May;265(5):999-1009.

 

Beta-interferon (IFN-β) and glatiramer acetate (GA) have been evaluated in people with clinically isolated syndrome (CIS) with the aim to delay a second clinical attack and a diagnosis of clinically definite multiple sclerosis (CDMS). We systematically reviewed trials evaluating ...

Last Updated: 31 Dec 1969

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

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

Go to URL

Last Updated: 24 Oct 2018

Go to URL
Registry for Participants With Short Bowel Syndrome
 

Status: Recruiting

Condition Summary: Short Bowel Syndrome

 

Last Updated: 14 Aug 2018

Go to URL