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Trichorhinophalangeal syndrome type 3
Other Names for this Disease
- Sugio-Kajii Syndrome
- TRPS 3
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 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). The range and severity of symptoms may vary from case to case. TRPS3 is caused by mutations in the TRPS1 gene which is localized to 8q24.12. TRPS3 is inherited in an autosomal dominant manner.Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder.
Last updated: 7/27/2011
- 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.
- 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.
- TRPS1. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/gene=trps1. Accessed 2/18/2010.
- 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
- The Online Mendelian Inheritance in Man (OMIM) is an 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.