Phocomelia

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Phocomelia
ICD-10 Q73.1
ICD-9 755.2-755.4
DiseasesDB 10020
MeSH D004480

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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



Cost Effectiveness of Phocomelia

| group5 = Clinical Trials Involving Phocomelia | list5 = Ongoing Trials on Phocomelia at Clinical Trials.govTrial results on PhocomeliaClinical Trials on Phocomelia at Google


| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Phocomelia | list6 = US National Guidelines Clearinghouse on PhocomeliaNICE Guidance on PhocomeliaNHS PRODIGY GuidanceFDA on PhocomeliaCDC on Phocomelia


| group7 = Textbook Information on Phocomelia | list7 = Books and Textbook Information on Phocomelia


| group8 = Pharmacology Resources on Phocomelia | list8 = AND (Dose)}} Dosing of PhocomeliaAND (drug interactions)}} Drug interactions with PhocomeliaAND (side effects)}} Side effects of PhocomeliaAND (Allergy)}} Allergic reactions to PhocomeliaAND (overdose)}} Overdose information on PhocomeliaAND (carcinogenicity)}} Carcinogenicity information on PhocomeliaAND (pregnancy)}} Phocomelia in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Phocomelia


| group9 = Genetics, Pharmacogenomics, and Proteinomics of Phocomelia | list9 = AND (pharmacogenomics)}} Genetics of PhocomeliaAND (pharmacogenomics)}} Pharmacogenomics of PhocomeliaAND (proteomics)}} Proteomics of Phocomelia


| group10 = Newstories on Phocomelia | list10 = Phocomelia in the newsBe alerted to news on PhocomeliaNews trends on Phocomelia


| group11 = Commentary on Phocomelia | list11 = Blogs on Phocomelia

| group12 = Patient Resources on Phocomelia | list12 = Patient resources on PhocomeliaDiscussion groups on PhocomeliaPatient Handouts on PhocomeliaDirections to Hospitals Treating PhocomeliaRisk calculators and risk factors for Phocomelia


| group13 = Healthcare Provider Resources on Phocomelia | list13 = Symptoms of PhocomeliaCauses & Risk Factors for PhocomeliaDiagnostic studies for PhocomeliaTreatment of Phocomelia

| group14 = Continuing Medical Education (CME) Programs on Phocomelia | list14 = CME Programs on Phocomelia

| group15 = International Resources on Phocomelia | list15 = Phocomelia en EspanolPhocomelia en Francais

| group16 = Business Resources on Phocomelia | list16 = Phocomelia in the MarketplacePatents on Phocomelia

| group17 = Informatics Resources on Phocomelia | list17 = List of terms related to Phocomelia


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