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, recognized 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 of normal or abnormal morphology.

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

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Article information

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

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Cases and figures

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    Case 2
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