Jump to content
Main menu
Navigation
●Main page
●Contents
●Current events
●Random article
●About Wikipedia
●Contact us
●Donate
Contribute
●Help
●Learn to edit
●Community portal
●Recent changes
●Upload file
Search
●Create account
●Log in
●Create account
● Log in
Pages for logged out editors learn more
●Contributions
●Talk
(Top)
1
References
Hand and foot deformity with flat facies
●Deutsch
Edit links
●Article
●Talk
●Read
●Edit
●View history
Tools
Actions
●Read
●Edit
●View history
General
●What links here
●Related changes
●Upload file
●Special pages
●Permanent link
●Page information
●Cite this page
●Get shortened URL
●Download QR code
●Wikidata item
Print/export
●Download as PDF
●Printable version
Appearance
From Wikipedia, the free encyclopedia
Hand and foot deformity with flat facies |
---|
Other names |
-
Emery-Nelson syndrome
-
Familial syndrome of short stature, deformities of the hands and feet, and unusual facies
|
---|
Hand and foot deformity with flat facies is a rare congenital malformation syndrome, where an individual has features such as facial dysmorphism, short stature, and other malformations with the limbs.[1][2][3]
Individuals with the condition can also have mental retardation, flat face, coarse hair, or camptodactyly.[4]
This disorder is present at birth but isn't diagnosed until middle childhood.[5]
The syndrome was first described by Alan E. H. Emery and Matilda M. Nelson of the University of Edinburgh in 1970.[6] There have been no further reports in the literature since 1970.[1]
References[edit]
^ "OMIM Entry - 139750 Hand and foot deformity with flat facies". omim.org. Retrieved 2021-09-02.
^ Winter, Robin M.; Baraitser, Michael (2013-12-20). Multiple Congenital Anomalies: A Diagnostic Compendium. Springer. p. 192. ISBN 978-1-4899-3109-2.
^ Gorlin, Robert J.; Ph.D, M. Michael Cohen Jr , D. M. D.; Ph.D, Raoul C. M. Hennekam M. D. (2001-09-27). Syndromes of the Head and Neck. Oxford University Press. p. 1048. ISBN 978-0-19-974772-6.{{cite book}}
: CS1 maint: multiple names: authors list (link)
^ Emery, A E; Nelson, M M (December 1970). "A familial syndrome of short stature, deformities of the hands and feet, and an unusual facies". Journal of Medical Genetics. 7 (4): 379–382. doi:10.1136/jmg.7.4.379. ISSN 0022-2593. PMC 1468949. PMID 5501704.
t
e
Retrieved from "https://en.wikipedia.org/w/index.php?title=Hand_and_foot_deformity_with_flat_facies&oldid=1183108360"
Categories:
●Rare genetic syndromes
●Syndromes with short stature
●Genetic disorder stubs
Hidden categories:
●CS1 maint: multiple names: authors list
●Articles with short description
●Short description is different from Wikidata
●All stub articles
●This page was last edited on 2 November 2023, at 06:16 (UTC).
●Text is available under the Creative Commons Attribution-ShareAlike License 4.0;
additional terms may apply. By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc., a non-profit organization.
●Privacy policy
●About Wikipedia
●Disclaimers
●Contact Wikipedia
●Code of Conduct
●Developers
●Statistics
●Cookie statement
●Mobile view