Phocomelia
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| Phocomelia Classification and external resources | |
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| A 20-year-old woman with left-sided phocomelia. | |
| ICD-10 | Q73.1 |
| ICD-9 | 755.2-755.4 |
| DiseasesDB | 10020 |
| MeSH | D004480 |
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Ongoing Trials on Phocomelia at Clinical Trials.gov Clinical Trials on Phocomelia at Google
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US National Guidelines Clearinghouse on Phocomelia
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Patient resources on Phocomelia Discussion groups on Phocomelia Patient Handouts on Phocomelia Directions to Hospitals Treating Phocomelia Risk calculators and risk factors for Phocomelia
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Overview
Phocomelia (from Greek φoko = "seal" plus μέλος (plural μέλεα) = "limb") is a congenital disorder involving the limbs (dysmelia). An individual exhibiting phocomelia may be referred to as a phocomelus.
Presentation
It presents at birth very short or absent long bones and flipper-like appearance of hands and sometimes feet. Amphibian deformities often take the form of phocomelia, in which the limbs are shortened due to lack or malformation of long bones, as opposed to other forms of dysmelia such as amelia, which is characterized by the complete lack of a limb, or polymelia, the presence of extra limbs, which are often fused together.
Causes
The condition may be inherited or occurs sporadically. It is also connected with prenatal exposure to the anti-nausea drug thalidomide.
Notable cases
Famous phocomelic people include Stanley Berent, also known as "Sealo The Seal Boy" (who made his living from performing / being exhibited in "freak shows") and, more currently, actor Mat Fraser, opera singer Thomas Quasthoff, guitarist Rick Renstrom and artist Alison Lapper. Marc Quinn's 15-foot-high nude sculpture of Alison Lapper Pregnant is shown on the formerly-vacant fourth plinth in Trafalgar Square. Hee Ah Lee is a renowned pianist with only two fingers on each hand.
External links
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
