National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Phocomelia


Phocomelia is a rare birth defect that can affect the upper and/or lower limbs. In people with this condition, the bones of the affected limb are either missing or underdeveloped. The limb is, therefore, extremely shortened and in severe cases, the hand or foot may be attached directly to the trunk. The involvement of the condition ranges from a single limb to both upper and lower limbs. In many cases, the underlying cause of phocomelia is poorly understood. It can be inherited as part of a genetic syndrome. Phocomelia can also be caused by maternal exposure to certain drugs (such as thalidomide) during pregnancy. There is no specific treatment for phocomelia. However, if it is part of a genetic syndrome, surgical intervention may be recommended for associated malformations.[1][2]
Last updated: 4/24/2017

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

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  1. Mukhtar K, Matuszczak M, and Bermejo-Sanchez E. Anesthesia recommendations for patients suffering from phocomelia. Orphan Anesthesia. November 2013; https://www.orpha.net/data/patho/Pro/en/Phocomelia-En.pdf.
  2. Bermejo-Sánchez E, Cuevas L, Amar E, Bianca S, Bianchi F, Botto LD, Canfield MA, Castilla EE, Clementi M, Cocchi G, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías ML. 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. Am J Med Genet C Semin Med Genet. November 2011; 157C(4):305-320.