Tooth and nail syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Hypodontia with nail dysgenesis; Witkop syndrome

Overview

Tooth and nail syndrome (also known as “Hypodontia with nail dysgenesis,”^[1] and “Witkop syndrome”^[1]) is a rare disorder, with small teeth, and small white nails that are brittle.

Historical Perspective

First described in 1965. ^[1]^:521^[2]

Pathophysiology

It is associated with MSX1.^[3]

Diagnosis

Physical Examination

Mouth

Small teeth (hypodontia)

Extremities

Nails that are thin, small, and friable, and which may be white (show koilonychia) at birth.

References

↑ ^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.
↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 880. ISBN 1-4160-2999-0.
↑ Jumlongras D, Bei M, Stimson JM; et al. (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. Unknown parameter |month= ignored (help)

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[Fitz2-1] 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.

[Bolognia-2] Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 880. ISBN 1-4160-2999-0.

[pmid11369996-3] Jumlongras D, Bei M, Stimson JM; et al. (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. Unknown parameter |month= ignored (help)

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