Tricho–rhino–phalangeal syndrome type 2

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Tricho–rhino–phalangeal syndrome type 2
Other names: trichorhinophalangeal syndrome with exostosis[1]
PMC4678473 13039 2015 201 Fig1 HTML.png
a) Long and clubbed-fingers a-b) nails fingers/toes are thin and dystrophic

Tricho–rhino–phalangeal syndrome type 2 (also known as Langer-Giedion syndrome) is a genetic disorder consisting of fine and sparse scalp hair, thin nails, pear-shaped broad nose, and cone-shaped epiphyses of the middle phalanges of some fingers and toes.[2]: 578 [3]

It has been associated with TRPS1.[4]

See also

References

  1. "Trichorhinophalangeal syndrome type II". Genetics Home References. NIH. Archived from the original on 29 August 2021. Retrieved 19 March 2019.
  2. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 716. ISBN 978-1-4160-2999-1.
  4. Momeni P, Glöckner G, Schmidt O, et al. (January 2000). "Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I". Nat. Genet. 24 (1): 71–4. doi:10.1038/71717. PMID 10615131. S2CID 21447066.

External links

Classification