Phocomelia

Last revised by Karwan T. Khoshnaw on 27 Sep 2018

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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