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Vertebral anomalies (VACTERL)

(60–80% patients)

Major anomalies (33% of patients diagnosed with VACTERL)

  • Congenital scoliosis due to bony malformation including hemivertebrae, fusion and failure of segmentation with scoliosis
  • Other congenital malformations of spine (excluding scoliosis)
  • Combination of vertebral anomalies with rib anomalies

Minor anomalies (32.7%)

  • Klippel Feil syndrome
  • Cervical rib and other rib anomalies (accessory rib, rib absence, fusion rib)

Why might these present to the GP in adulthood?

The degree of vertebral issues in VACTERL is variable, and some patients will be under the care of orthopaedic surgeons, but many will be under the care of the GP for these issues. Older VACTERL patients may not have been thoroughly screened in childhood for such anomalies due to lack of awareness of the syndrome at this time. This may need GP attention for several reasons:

  1. Chronic pain, which may worsen with age
  2. ‘New’ vertebral anomalies may cause symptoms and need identifying and treating for the first time in adulthood
  3. Osteoarthritis may develop either in the area of anomalies or due to compensation by other joints for these anomalies
  4. Syrinx and tethered cord have been diagnosed in adulthood (153)

Recommendation: New or worsening back pain in VACTERL patients should be treated with caution and referred for specialist investigation, even if previous vertebral anomalies have not been diagnosed. VACTERL should also be considered in adults born with OA/TOF, even when not previously identified as having VACTERL association.