Congenital Abnormality
phocomelia
pho·co·me·li·a [ foh-koh-mee-lee-uh, -meel-yuh]
Definitions related to phocomelia:
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A congenital malformation in which the upper portion of a limb is either shortened or absent.NCI ThesaurusU.S. National Cancer Institute, 2021
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Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
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Reduction or absence of proximal portion of limb, with the paws, hands, or feet being closer to the trunk of the body. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)CDISC TerminologyClinical Data Interchange Standards Consortium (CDISC), 2021
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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...National Center for Advancing Translational Sciences
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