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Genetic and Rare Diseases Information Center (GARD)

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Trichorhinophalangeal syndrome type 3


Other Names for this Disease
  • Sugio-Kajii Syndrome
  • Trichorhinophalangeal syndrome type 1 and 3
  • TRPS 3
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 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) 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 3. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Sugio-Kajii Syndrome
  • Trichorhinophalangeal syndrome type 1 and 3
  • TRPS 3
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.