Medicine:Tricho–rhino–phalangeal syndrome type 2
From HandWiki
| Tricho–rhino–phalangeal syndrome type 2 | |
|---|---|
| Other names | trichorhinophalangeal syndrome with exostosis[1] |
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
- Skin lesion
- List of cutaneous conditions
References
- ↑ "Trichorhinophalangeal syndrome type II". NIH. https://ghr.nlm.nih.gov/condition/trichorhinophalangeal-syndrome-type-ii#synonyms.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN:0-7216-2921-0.
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 716. ISBN 978-1-4160-2999-1.
- ↑ "Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I". Nat. Genet. 24 (1): 71–4. January 2000. doi:10.1038/71717. PMID 10615131.
External links
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