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Chordoma, Susceptibility to (CHDM)
Chordoma, Susceptibility to (CHDM)
OMIM number: 215400
Comments closing date: 13/08/2025
Susceptibility to chordoma is a rare hereditary
(genetic) condition which significantly increases
the lifetime risk of developing chordoma, which is
a rare malignant bone cancer, which occur along
the length of the spine or in the base of the skull. It
is caused by a duplication of the gene called
TBXT. The TBXT gene is thought to have several
important roles during embryonic development,
particularly in the development of the brain and
spinal cord. Chordomas typically occur in
adulthood, although around 5% of chordoma are
diagnosed in childhood and adolescence.
Chordomas frequently present close to major
nerves, and so can be associated with symptoms
including numbness, pain and weakness,
swallowing and breathing difficulties, and
disturbances to vision and bladder control.
Unfortunately, there is no cure for this condition.
Treatment is predominantly surgical, followed by
radiotherapy, and recurrence rate is high. In about
30-40% of chordoma cases, the tumour spreads
(metastasizes) to other parts of the body.
Review date: 2 July 2027
