Tooth and nail syndrome

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Tooth and nail syndrome
Other names: Hypodontia with nail dysgenesis
PMC3771223 ijms-38-191-g001.png
a) Mandibular anterior permanent germ b) maxillary anterior permanent germ c) toenails are spoon–shaped d) mandibular primary canine e,f)absence of all maxillary primary incisors

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

References

  1. 1.0 1.1 1.2 Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  2. 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.
  3. 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

Classification