title: [Trichorhinophalangeal syndrome--clinical presentation and genetics].
abstract: BACKGROUND
  The trichorhinophalangeal syndrome (TRPS) is a hereditary, skeletal dysplasia which has a characteristic clinical presentation and is classified in types 1, 2 and 3, based on phenotype and genotype. Typical findings may be mild and many patients probably remain undiagnosed.
  
  
  METHODS
  The paper is based on four case reports and provides a short review of the condition.
  
  
  RESULTS
  Our four patients all have typical facial features, such as a large nose and thin upper lip, thin hair and short curved fingers with characteristic radiological findings. The condition is autosomal dominant and caused by a mutation in the TRPS1 gene, which codes a gene-regulating protein involved in development of hair and modulation of chondrocytes. The diagnosis can be based on clinical findings, but DNA-analysis can be of help in unclear situations. Two of our patients were diagnosed from clinical and radiological findings, but for the two others genetic examinations were done as well. There is no causal treatment, but the diagnosis can give patients an explanation of their problems, and genetic counseling for the patient and family can be offered. Orthopedic surgery and cosmetic aids are valuable for many.
  
  
  CONCLUSIONS
  In an increasingly technified medical daily life, the clinical view is still the most important tool in diagnosing patients with this condition.
authors.affiliation: Barneavdelinga i Ålesund, Helse Sunnmøre, Norway. kristoffer.brodwall@gmail.com
authors.forename: Kristoffer M
authors.initials: KM
authors.lastname: Brodwall
authors.forename: Pétur B
authors.initials: PB
authors.lastname: Júlíusson
authors.forename: Robert
authors.initials: R
authors.lastname: Bjerknes
authors.forename: Randi
authors.initials: R
authors.lastname: Hovland
authors.forename: Torunn
authors.initials: T
authors.lastname: Fiskerstrand
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005817:Genetic Counseling; D006201:Hair Diseases / Q000175:diagnosis / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007039:Hypotrichosis / Q000175:diagnosis / Q000235:genetics; D015826:Langer-Giedion Syndrome / Q000175:diagnosis / Q000235:genetics; D009666:Nose / Q000002:abnormalities