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Primary tethered cord syndrome
rarePrimary 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.
- Identifiers
- MONDO:0017086 Orphanet:268861
- Part of
- Neural tube defect
- Also known as
- occult spinal dysraphism · occult spinal dysraphism sequence · primary tethered spinal cord syndrome · segmental vertebral anomalies · Tethered Cord Syndrome
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