Tooth and nail syndrome: Difference between revisions
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==Diagnosis== | ==Diagnosis== | ||
===Physical Examination=== | ===Physical Examination=== | ||
====Mouth==== | |||
*small teeth ([[hypodontia]]) | |||
====Extremities==== | ====Extremities==== | ||
*Nails that are thin, small, and friable, and which may show koilonychia at birth. | *Nails that are thin, small, and friable, and which may show koilonychia at birth. | ||
Revision as of 20:20, 31 July 2012
| Tooth and nail syndrome | |
| ICD-10 | Q82.4 |
|---|---|
| OMIM | 189500 |
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,
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 show koilonychia at birth.
See also
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
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