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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Trichorhinophalangeal syndrome type 2


Other Names for this Disease
  • Deletion 8q24.1
  • Giedion-Langer syndrome
  • Langer Giedion Syndrome
  • LGS
  • Monosomy 8q24.1
More Names
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Your Question

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?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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.[1] There have been a couple reports of osteopenia or osteoporosis in adults with TRPS.[1] Life expectancy of people with TRPS is normal.[1]
Last updated: 7/27/2011

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

References
  • 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. Accessed 7/22/2011.
  • 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.