Hand and foot deformity with flat facies
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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]
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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- ^ a b "Hand and foot deformity with flat facies | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-07-18.
- ^ About: Emery-Nelson syndrome
- ^ "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.
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