An extremely rare congenital defect that has only had 75 documented cases to date (11/17/1999). With several or all of the following characteristics: underdevelopment of the cheek and jaw area, down-sloping of the opening of the eyes, lack or absence of the lower eyelashes, lack of development of the internal and external ear, possible cleft palate, underdevelopment or absence of the thumb, and shortened forearms, as well as poor movement in the elbow.

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