With modern imaging techniques, various types of spinal dysraphism are being diagnosed in adults with increasing frequency.

The differential diagnosis includes neuromuscular disorders (i.e. cerebral palsy, spinal dysraphism, poliomyelitis), skeletal dysplasias, and juvenile idiopathic arthritis.

SACRAL syndrome is a congenital condition characterized by spinal dysraphism, anogenital, cutaneous, renal and urologic anomalies, associated with an angioma of lumbosacral localization.

Tethered spinal cord syndrome (TCS) or occult spinal dysraphism sequence refers to a group of neurological disorders that relate to malformations of the spinal cord.