Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

Definition

Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.

Also known as Faulk-Epstein-Jones syndrome — per MONDO

Also identified as