Phocomelia

Phocomelia
Cases of severe thalidomide-induced phocomelia.
SpecialtyTeratology Edit this on Wikidata

Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage.[1][2] A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined.[2]

Occurrence in an individual results in various abnormalities to the face, limbs, ears, nose, vessels and many other underdevelopments. Although operations may improve some abnormalities, many are not surgically treatable due to the lack of nerves and other related structures.

The term is from Ancient Greek φώκη phōkē, "seal (animal)" + -o- interfix + μέλος melos, "limb" + ια -ia suffix). Phocomelia is an extremely rare congenital disorder involving malformation of the limbs (dysmelia). Étienne Geoffroy Saint-Hilaire coined the term in 1836.[3]

  1. ^ Hooper, G.; Tytherleigh-Strong, G. (2003). "The Classification of Phocomelia". Journal of Hand Surgery (British and European Volume). 28B (3): 215–217.
  2. ^ a b Amar, Emmanuelle (2011). "Phocomelia: A Worldwide Descriptive Epidemiologic Study in a Large Series of Cases From the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Literature". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 15 (4): 305–320. doi:10.1002/ajmg.c.30320. PMC 4427055. PMID 22002800.
  3. ^ Zimmer, Carl (15 March 2010). "Answers Begin to Emerge on How Thalidomide Caused Defects". New York Times. Retrieved 26 February 2012. The word "phocomelia" means seal limb. It describes an extremely rare condition in which babies are born with limbs that look like flippers.