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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.

Individuals with the condition can also have mental retardation, flat face, coarse hair, or camptodactyly.

This disorder is present at birth but isn't diagnosed until middle childhood.

The syndrome was first described by Alan E. H. Emery and Matilda M. Nelson of the University of Edinburgh in 1970. There have been no further reports in the literature since 1970.

References

1. ^ "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.
2. About: Emery-Nelson syndrome
3. "OMIM Entry - 139750 Hand and foot deformity with flat facies". omim.org. Retrieved 2021-09-02.
4. Winter, Robin M.; Baraitser, Michael (2013-12-20). Multiple Congenital Anomalies: A Diagnostic Compendium. Springer. p. 192. ISBN 978-1-4899-3109-2.
5. 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)
6. 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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