Phocomelia is an extremely rare congenital skeletal disorder that characteristically affects the limbs. It can affect either the upper limbs or lower limbs or both. Phocomelia is also a descriptive term to describe the characteristic limb anomalies occurring with its associated conditions.

It characteristically manifests as a deficiency or shortening of the proximal to mid portions of the limbs.

Phocomelia can occur sporadically. However recognised associations include

Classically with upper limb involvement, the hands are present, but with variable deficiency and or foreshortening of the arm and/or forearm. The hands may be normal or abnormal on morphology.

Derived from the Greek words phoco meaning seal and melia meaning limb.

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Article information

rID: 13608
Section: Gamuts
Tag: cases
Synonyms or Alternate Spellings:
  • Seal limb anomaly
  • Seal limbs

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