The appearance of this disorder can include hypertelorism (widely-set eyes), down-slanting eyes, webbed neck, and other conditions, including congenital heart disease in half of those affected.

• 这种病症的表象可能包括器官距离过远（双目远离）、向下斜视、蹼状颈、以及其它状况，包括半数患有先天性心脏病。