Faulk Epstein Jones Syndrome

At a glance

Polymalformative syndrome characterized by the association of congenital blepharoptosis (dropping) of the upper eyelids and lumbosacral vertebral fusion.

Synonyms

Posterior Lumbosacral Vertebral Fusion-Blepharoptosis Syndrome; Familial Posterior Lumbosacral Vertebral Fusion and Eyelid Ptosis Syndrome; Vertebral Fusion-Posterior Lumbosacral Blepharoptosis Syndrome.

Incidence

The incidence remains unknown. The prevalence is established at 1:1,000,000.

Genetic inheritance

Autosomal dominant.

Diagnosis

Based on clinical findings and radiologic findings of vertebral fusions, especially in the lumbosacral region.

Clinical aspects

Patients have eye and musculoskeletal involvement. They present with a congenital and bilateral ptosis and elevator palsy. Other clinical features consist of contractures at the hip and knee, Achilles tendon tightness, and fusion of the posterior elements of the lumbosacral spine.

Anesthetic considerations

Limited movement of the hips, knees, and lumbosacral region may complicate patient positioning and increase risk of nerve compression and skin damage. However, the main concern is that neuraxial regional anesthesia in the lumbar and lower thoracic region is not recommended because of the posterior fusion.

References