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Genetic and Rare Diseases Information Center (GARD)

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Trichorhinophalangeal syndrome type 1


Other Names for this Disease

  • Giedion syndrome
  • TRPS1
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 1 (TRPS1) is an extremely rare inherited multisystem disorder.[1] TRPS1 is characterized by a distinctive facial appearance that includes sparse scalp hair; a rounded nose; a long, flat area between the nose and the upper lip (philtrum); and a thin upper lip. Individuals with this condition also have skeletal abnormalities such as cone-shaped epiphyses in their fingers and toes and short stature.[2] The range and severity of symptoms may vary from case to case.[1] Transmission of TRPS1 is autosomal dominant, linked to mutations in the TRPS1 gene localized to 8q24.12.[3]
Last updated: 7/25/2011

References

  1. Trichorhinophalangeal Syndrome Type I. National Organization for Rare Disorders (NORD). 2005; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Trichorhinophalangeal%20Syndrome%20Type%20I. Accessed 2/18/2010.
  2. TRPS1. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/gene=trps1. Accessed 2/18/2010.
  3. Trichorhinophalangeal syndrome, type 1 and 3. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77258. Accessed 2/18/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Trichorhinophalangeal syndrome type 1. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • 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 1. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Giedion syndrome
  • TRPS1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.