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phocomelia

congenital malformation
Also known as: phocomelus, seal extremity

Quick Summary

Phocomelia is a rare congenital malformation characterized by the absence or malformation of extremities. This condition arises from errors in limb bud development between the fourth and eighth weeks of intrauterine life.1

In phocomelia, the upper part of the limb is severely underdeveloped or absent, with the lower part attaching directly to the trunk, resembling a seal's flipper. Other related limb malformations include amelia (complete absence of limbs), ectromelia (absence of one or more extremities), hemimelia (absence of the lower part of the limb), and sirenomelia (fused legs).1

Treatment for significant limb malformations typically involves fitting prostheses and specialized training, with surgery sometimes used for minor deformities.1

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2 Britannica Sources
  1. peromelia
  2. phokomelia

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