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Trichorhinophalangeal syndrome type 1
Other Names for this Disease
- Giedion syndrome
 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. The range and severity of symptoms may vary from case to case. Transmission of TRPS1 is autosomal dominant, linked to mutations in the TRPS1 gene localized to 8q24.12.Trichorhinophalangeal syndrome type 1 (TRPS1) is an extremely rare inherited multisystem disorder.
Last updated: 7/25/2011
- 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.
- TRPS1. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/gene=trps1. 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.
- 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
- 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 1. Click on the link to view a sample search on this topic.