National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Trichorhinophalangeal syndrome type 2

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What have been the affects of TRPS in the later years in life? Does any of the other people that have it have a problem with excessive sweating? If so, is there any kind of treatment that can cure it?

The following information may help to address your question:


How might trichorhinophalangeal syndrome (TRPS) affect an individual in adulthood?

Information on late onset TRPS symptoms is limited. Joint stiffness, chronic joint pain, and degenerative hip disease (e.g., Perthes-like hip disease) are thought to be relatively common in adults with TRPS. There have been a couple reports of osteopenia or osteoporosis in adults with TRPS. Life expectancy of people with TRPS is normal.[1]
Last updated: 3/28/2016

Is trichorhinophalangeal syndrome (TRPS) associated with excessive sweating?

We were unable to find information regarding an association between TRPS and excessive sweating. One case report described a child with a fish-like malodour and TRPS. Her TRPS was due to a novel mutation in TRPS1, however the cause of the malodour was not determined. The association, if any, between the malodour and TRPS is not known.[2]

Hyperhidrosis is the medical term for excessive sweating. If you would like to learn more about this condition and its treatment, please visit the following link to MedlinePlus.gov. 
http://www.nlm.nih.gov/medlineplus/ency/article/007259.htm 
Last updated: 7/27/2011

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  1. Izumi K, Takagi M, Parikh AS, Hahn A, Miskovsky SN, Nishimura G, Torii C, Kosaki K, Hasegawa T, Neilson DE. Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood. Am J Med Genet A. 2010 Aug;152A(8):2115-9; http://www.ncbi.nlm.nih.gov/pubmed/20635356.
  2. Nakamura M, Sugita K, Tokura Y. A novel missense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I (TRPS1) with fish-like malodour. J Eur Acad Dermatol Venereol. 2010 Mar;24(3):358-9; http://www.ncbi.nlm.nih.gov/pubmed/19694891. Accessed 7/22/2011.