Vertebral
What are Vertebral Malformations?
The Spine, or back bone, is made up of many small bones called Vertebrae, stacked one on top of each other.
A malformations means the bone or bones in this location have been formed in an unusual shape, size or position.
Vertebral problems in VACTERL are highly variable. Ranging from mild to severe. [₁]
These affect between 60 and 80 % of babies born with VACTERL association to varying degrees.
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.[₂]
Different types of Malformation
Hemivertebrae:
One side of the vertebral body fails to develop fully.
This may lead to congenital scoliosis.
May require monitoring or surgical correction.
Vertebral Agenesis / Hypoplasia:
Partial or complete absence of a vertebra.
May lead to spinal instability, or neurological problems.
Vertebral Segmentation Defects:
Failure of segmentation results in fusion of two or more vertebrae.
May cause reduced spinal mobility / pain.
Butterfly Vertebrae:
Midline cleft in a vertebra giving it a “butterfly” appearance
on imaging
Usually asymptomatic or can lead to lower back pain
Congenital Scoliosis / Kyphosis:
Curvature of the spine, often in a C or S shape, caused by formation defects e.g., hemivertebrae.
Sacral Agenesis:
Missing or underdeveloped tailbone (lowest part of the spine).
Rib Malformation:
Common with vertebral defects due to shared embryology.
Missing, extra, fused, or abnormally shaped ribs.
Spinal Cord:
Involvement is less common but can occur, especially when vertebral defects are severe or involve the lower spine.
e.g. Tethered Cord Syndrome, where the spinal cord is abnormally attached limiting movement.
N.B. descriptions of the Terms used here can be found in the Glossary section.
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