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Diseases

Genetic and Rare Diseases Information Center (GARD)

SHORT syndrome


Other Names for this Disease
  • Short stature, Hyperextensibility, Hernia, Ocular depression, Rieger anomaly and Teething delay
  • Aarskog-Ose-Pande syndrome
  • Partial lipodystrophy with Rieger anomaly and short stature
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1] It is caused by mutations in the PIK3R1 gene. Inheritance is autosomal dominant. Treatment focuses on the specific symptoms present in each individual.[2]
Last updated: 3/7/2016

References

  1. SHORT syndrome. NORD. August 17, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/938/viewAbstract.
  2. Innes AM. SHORT Syndrome. GeneReviews. May 15, 2014; http://www.ncbi.nlm.nih.gov/books/NBK201365/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on SHORT syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss SHORT syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Short stature, Hyperextensibility, Hernia, Ocular depression, Rieger anomaly and Teething delay
  • Aarskog-Ose-Pande syndrome
  • Partial lipodystrophy with Rieger anomaly and short stature
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.