Tooth and nail syndrome
Appearance
Tooth and nail syndrome | |
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This condition is inherited in an autosomal dominant manner. | |
Specialty | Medical genetics |
Tooth and nail syndrome (also known as "Hypodontia with nail dysgenesis,"[1] and "Witkop syndrome"[1]) is a rare disorder, first described in 1965, characterized by nails that are thin, small, and friable, and which may show koilonychia at birth.[1]: 521 [2]
It is associated with MSX1.[3]
See also
[edit]References
[edit]- ^ a b c Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 880. ISBN 978-1-4160-2999-1.
- ^ Jumlongras D, Bei M, Stimson JM, et al. (July 2001). "A nonsense mutation in MSX1 causes Witkop syndrome". Am. J. Hum. Genet. 69 (1): 67–74. doi:10.1086/321271. PMC 1226049. PMID 11369996.
External links
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