A congenital syndrome caused by mutations in the dopamine beta-hydroxylase (DBH) gene. It is characterized by ORTHOSTATIC HYPOTENSION; frequent SYNCOPE especially following exercies, BLEPHAROPTOSIS; and delayed eye opening in affected neonates. Norepinephrine is greatly reduced in body fluids while dopamine is greatly increased. OMIM: 223360
Date introduced: August 25, 2010