Tooth and nail syndrome

Tooth and nail syndrome
This condition is inherited in an autosomal dominant manner.
SpecialtyMedical genetics 

Tooth and nail syndrome (also known as hypodontia with nail dysgenesis, Witkop syndrome, or mucoepithelial dysplasia syndrome)[1][2] is a rare disorder, first described in 1965, characterized by nails that are thin, small, and friable, and which may show koilonychia at birth.[2]: 521 [3] It was named after Dr. Carl J. Witkop Jr., who first described it between 1978 and 1982.[1] It is an autosomal dominant type of ectodermal dysplasia.[4] Its estimated incidence is 2 in 10,000.[4]

It is associated with MSX1.[5]

See also

References

  1. ^ a b Gorlin, Robert J.; Cohen, M. Michael; Hennekam, Raoul (2001-09-27). Syndromes of the Head and Neck. Oxford University Press. p. 539. ISBN 978-0-19-974772-6.
  2. ^ a b Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  3. ^ 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.
  4. ^ a b DeLuke, Dean M. (2014-09-05). Syndromes of the Head and Neck, An Issue of Atlas of the Oral & Maxillofacial Surgery Clinics. Elsevier Health Sciences. p. 139. ISBN 978-0-323-32313-0.
  5. ^ 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.


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