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Diseases

Genetic and Rare Diseases Information Center (GARD)

Trichorhinophalangeal syndrome type 2


Other Names for this Disease
  • TRPS 2
  • Langer Giedion Syndrome
  • LGS
  • Deletion 8q24.1
  • Monosomy 8q24.1
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

Trichorhinophalangeal syndrome type 2 (TRPS2), also known as Langer-Giedion syndrome, is an extremely rare inherited multisystem disorder.[1] The condition is characterized by intellectual deficit and numerous other abnormalities including excess folds of skin, multiple bony growths (exostoses), characteristic facial features, and cone-shaped phalangeal epiphyses (the growing ends of the bones in the fingers).[2] The range and severity of symptoms varies greatly from person to person.[1] TRPS2 is transmitted in an autosomal dominant manner, but many sporadic cases have been reported.[2] TRPS2 is due to the absence of genetic material (chromosomal deletions) on chromosome 8, which often includes the TRPS1 gene and EXT1 gene. The size of the deletion varies from person to person.[1][3]
Last updated: 5/17/2015

References

  1. Trichorhinophalangeal Syndrome Type II. National Organization for Rare Disorders (NORD). May 25, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1074/viewAbstract. Accessed 5/17/2015.
  2. Lacombe D. Langer-Giedon Syndrome. Orphanet. April 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=502. Accessed 5/17/2015.
  3. Langer-Giedion syndrome. Genetics Home Reference (GHR). February 2009; http://ghr.nlm.nih.gov/condition/langer-giedion-syndrome. Accessed 5/17/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Trichorhinophalangeal syndrome type 2. 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 Trichorhinophalangeal syndrome type 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • TRPS 2
  • Langer Giedion Syndrome
  • LGS
  • Deletion 8q24.1
  • Monosomy 8q24.1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.