SHORT Syndrome

SHORT Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report SHORT Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Growth Retardation-Rieger Anomaly
  • Reiger Anomaly-Growth Retardation
  • Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay
  • Lipodystrophy, partial, with Rieger anomaly and short stature

Disorder Subdivisions

  • None

General Discussion

SHORT syndrome is a condition in which affected individuals have multiple birth defects in different organ systems. The term SHORT is an acronym with each letter representing one of the common findings in affected persons:



(S)= short stature

(H)= hyperextensibility of joints and/or hernia (inguinal)

(O)= ocular depression

(R) =Rieger anomaly

(T) =teething delay



Other characteristics common in SHORT syndrome are a triangular face, small chin with a dimple, a loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech.

Symptoms

SHORT syndrome is a disorder that affects multiple organ systems. This condition is characterized by short stature, joints that stretch more than usual (hyperextensibility), a particular type of intestinal hernia (inguinal), deep set eyes (ocular depression), defective development of the anterior chamber of the eye that can lead to glaucoma (Rieger anomaly) and delayed eruption of teeth.



Other characteristics common in SHORT syndrome are a triangular face, small chin with a dimple, a loss of fat under the skin (lipodystrophy), abnormal position of the ears and hearing loss. Some affected individuals have speech delay and other developmental delays but intelligence is usually normal.



In addition to these features, affected infants may also have difficulty gaining weight and develop frequent illnesses. Diabetes is common in the second decade of life, usually preceded by hypoglycemia.

Causes

SHORT syndrome is a very rare syndrome that appears to be genetic but a specific gene mutation for this condition has not yet been identified. The pattern of inheritance has not been firmly established, but is most consistent with autosomal dominant.



Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

Affected Populations

SHORT syndrome is a very rare disorder. The incidence of this condition can not be established because so few cases have been reported in the medical literature.

Standard Therapies

Diagnosis

The diagnosis of SHORT syndrome is based on physical findings and X-rays. Molecular genetic testing is available on a research basis only.



Treatment

No specific treatment exists for SHORT syndrome. Treatment is symptomatic and supportive.



Genetic counseling may be of benefit for patients and their families.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.



For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Raygada M and Rennert O. SHORT Syndrome. In: The NORD Guide to Rare Disorders, Philadelphia: Lippincott, Williams and Wilkins, 2003:250.



JOURNAL ARTICLES

Aarskog D, Ose L, Pande H, et al. Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes. AmJ Med Genet. 1983;15:29-38



Brodsky MC, Whiteside-Michel J, and Merin LM. Rieger anomaly and congenital glaucoma in the SHORT syndrome. Arch Opthamol. 1996;114:1146-1147.



Koenig R, Brendel L and Fuchs S. SHORT syndrome. Clin Dysmorph. 2003;12:45-49.



Toriello HV, Wakefield S, Komar K, et al. Report of a case and further delination of the SHORT syndrome. Am J Med Genet. 1985:22;311-314.



FROM THE INTERNET

McKusick VA, ed. Online Inheritance in Man (OMIM). Baltimore, MD: The Johns Hopkins University; Entry No. 269880; Last Update: 4/28/04.

Resources

Human Growth Foundation

997 Glen Cove Avenue

Suite 5

Glen Head, NY 11545

Tel: (516)671-4041

Fax: (516)671-4055

Tel: (800)451-6434

Email: hgf1@hgfound.org

Internet: http://www.hgfound.org/



MAGIC Foundation

6645 W. North Avenue

Oak Park, IL 60302

Tel: (708)383-0808

Fax: (708)383-0899

Tel: (800)362-4423

Email: mary@magicfoundation.org

Internet: http://www.magicfoundation.org



Little People of America, Inc.

250 El Camino Real Suite 201

Tustin, CA 92780

Tel: (714)368-3689

Fax: (714)368-3367

Tel: (888)572-2001

Email: info@lpaonline.org

Internet: http://www.lpaonline.org/



Restricted Growth Association

PO Box 5137

Yeovil, BA20 9FF

United Kingdom

Tel: 03001111970

Fax: 03001112454

Email: office@restrictedgrowth.co.uk

Internet: http://www.restrictedgrowth.co.uk



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/



NIH/National Eye Institute

31 Center Dr

MSC 2510

Bethesda, MD 20892-2510

United States

Tel: (301)496-5248

Fax: (301)402-1065

Email: 2020@nei.nih.gov

Internet: http://www.nei.nih.gov/



Coalition for Heritable Disorders of Connective Tissue (CHDCT)

4301 Connecticut Avenue, NW Suite 404

Washington, DC 20008

Tel: (202)362-9599

Fax: (202)966-8553

Tel: (800)778-7171

Email: chdct@pxe.org

Internet: http://www.chdct2.org/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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