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Isolated absence of upper arm and forearm with hand present

ORPHA:294975· ICD-10 Q71.1

Definition

A rare congenital limb malformation characterized by absence or marked shortening of the proximal to mid portion of an upper limb, while the hand is normal or nearly normal. The condition may be unilateral or bilateral, and occur sporadically or as part of a malformation syndrome.

Prevalence
1-9 / 1 000 000
Age of onset
Infancy, Neonatal