Primary tethered cord syndrome
Synonyms: Primary tethered spinal cord syndrome
Primary tethered cord syndrome is a genetic non-syndromic congenital malformation of the neurenteric canal spinal cord and column characterized by progressive neurologic deterioration (pain sensorimotor deficits abnormal gait decreased tone or abnormal reflexes) musculoskeletal changes (foot deformities and asymmetry muscle atrophy limb weakness and numbness gait disturbances scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region such as turfs of hair skin appendages dimples subcutaneous lipomas skin discoloration or hemangiomas are frequently associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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