Tooth and nail syndrome: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
|||
| (5 intermediate revisions by the same user not shown) | |||
| Line 9: | Line 9: | ||
{{SK}} Hypodontia with nail dysgenesis; Witkop syndrome | {{SK}} Hypodontia with nail dysgenesis; Witkop syndrome | ||
==Overview== | ==Overview== | ||
'''Tooth and nail syndrome''' (also known as "Hypodontia with nail dysgenesis,"<ref name="Fitz2" /> and "Witkop syndrome"<ref name="Fitz2" />) is a rare disorder, | '''Tooth and nail syndrome''' (also known as "Hypodontia with nail dysgenesis,"<ref name="Fitz2" /> and "Witkop syndrome"<ref name="Fitz2" />) is a rare disorder, with [[small teeth]], and small [[white nails]] that are brittle. | ||
==Historical Perspective== | ==Historical Perspective== | ||
| Line 16: | Line 16: | ||
==Pathophysiology== | ==Pathophysiology== | ||
It is associated with ''[[MSX1]]''.<ref name="pmid11369996">{{cite journal |author=Jumlongras D, Bei M, Stimson JM, ''et al.'' |title=A nonsense mutation in MSX1 causes Witkop syndrome |journal=Am. J. Hum. Genet. |volume=69 |issue=1 |pages=67–74 |year=2001 |month=July |pmid=11369996 |pmc=1226049 |doi=10.1086/321271 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61446-3}}</ref> | It is associated with ''[[MSX1]]''.<ref name="pmid11369996">{{cite journal |author=Jumlongras D, Bei M, Stimson JM, ''et al.'' |title=A nonsense mutation in MSX1 causes Witkop syndrome |journal=Am. J. Hum. Genet. |volume=69 |issue=1 |pages=67–74 |year=2001 |month=July |pmid=11369996 |pmc=1226049 |doi=10.1086/321271 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61446-3}}</ref> | ||
==Diagnosis== | |||
===Physical Examination=== | |||
====Mouth==== | |||
*Small teeth ([[hypodontia]]) | |||
====Extremities==== | |||
*Nails that are thin, small, and friable, and which may be white (show [[koilonychia]]) at birth. | |||
==See also== | ==See also== | ||
Latest revision as of 20:23, 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, 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.
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
|month=ignored (help)