Log in


Forgot your password?
New user?
 
You are here: Home / Rare Disease Information / Rare Disease Database

Search Rare Diseases

Enter a disease name or synonym to search NORD's database of reports.

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

SHORT Syndrome

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

Synonyms of SHORT Syndrome

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

Disorder Subdivisions

  • No subdivisions found.

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.

Organizations related to SHORT Syndrome

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.

 
Copyright ©2013 NORD - National Organization for Rare Disorders, Inc. All rights reserved.