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:
- thalidomide embryopathy: most common cause of historically
- Roberts syndrome
- TAR syndrome 4
- Grebe syndrome
- Holt-Oram syndrome
- DK phocomelia syndrome/von Voss-Cherstvoy syndrome
- Schinzel-phocomelia syndrome 5
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.
History and etymology
Derived from the Greek phoco meaning "seal" and melia meaning "limb".
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