phocomelia

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phocomelia

A doctor examines an infant with phocomelia during a pediatric checkup.

Definition

Noun: A severe congenital abnormality characterized by the absence or extreme underdevelopment of the proximal (upper) segments of a limb or limbs. This results in the hands or feet appearing to be attached directly to the torso, resembling the flippers of a seal. This rare condition is a known teratogenic effect associated with maternal use of the drug thalidomide during pregnancy.

Usage

The term is used specifically in medical, clinical, and historical contexts to describe a particular type of birth defect. It is a technical term. - The doctor diagnosed the newborn with phocomelia. - The lecture covered the history of phocomelia in relation to pharmaceutical regulation. - Phocomelia serves as a tragic example of the importance of drug safety testing during pregnancy.

Advanced Usage
  • Etiological Context: The term is often linked directly to its historical cause, thalidomide. It can be used to discuss the consequences of teratogens.
    • The epidemic of phocomelia in the late 1950s led to a major overhaul of drug approval processes.
  • Descriptive in Medicine: Used to classify and describe the specific phenotype of limb malformation.
    • The ultrasound revealed signs consistent with phocomelia of the upper limbs.
Variants and Related Words
  • Phocomelic (adjective): Pertaining to or characterized by phocomelia.
    • The study focused on the phocomelic spectrum of disorders.
  • Amelia: A related but distinct condition involving the complete absence of one or more limbs.
  • Meromelia: A general term for the congenital absence of any part of a limb.
Synonyms
  • Seal limb deformity (descriptive synonym, now considered outdated and potentially insensitive in clinical use).
  • Thalidomide embryopathy (when specifically referring to the syndrome caused by that drug, which can include phocomelia as a feature).
Notes on Meaning

This term has a single, highly specific medical meaning. It is not used in general language or metaphorically. Its usage is almost exclusively confined to discussions of medical history, teratology, and congenital disorders.

phocomelia

A doctor examines an infant with phocomelia during a pediatric checkup.

Noun
  1. an abnormality of development in which the upper part of an arm or leg is missing so the hands or feet are attached to the body like stumps; rare condition that results from taking thalidomide during pregnancy

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