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Diseases

Genetic and Rare Diseases Information Center (GARD)

Trichorhinophalangeal syndrome type 3


Other Names for this Disease
  • TRPS 3
  • Sugio-Kajii Syndrome
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Overview

Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder.[1] TRPS3 is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).[2][3] The range and severity of symptoms may vary from case to case.[1] TRPS3 is caused by mutations in the TRPS1 gene which is localized to 8q24.12.[2] TRPS3 is inherited in an autosomal dominant manner.[1][2] 
Last updated: 7/27/2011

References

  1. Trichorhinophalangeal Syndrome Type III. National Organization for Rare Disorders (NORD). 2005; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Trichorhinophalangeal%20Syndrome%20Type%20III. Accessed 2/18/2010.
  2. 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.
  3. TRPS1. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/gene=trps1. Accessed 2/18/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Trichorhinophalangeal syndrome type 3. 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 3. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • TRPS 3
  • Sugio-Kajii Syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.