/posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

Rare Disease

MONDO:0008650

Also Known As

Faulk-Epstein-Jones syndromeFaulk Epstein Jones syndromecongenital ptosis and posterior fusion of lumbosacral vertebraefamilial posterior lumbosacral vertebral fusion and eyelid ptosisvertebral fusion posterior lumbosacral blepharoptosisvertebral fusion, POSTERIOR lumbosacral, with blepharoptosis

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.