Trait

Pear-shaped vertebrae

Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.

HPO HP:0004566

Also called: Pear-shaped vertebral bodies
Body system: Abnormality of the musculoskeletal system

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2 genes linked to Pear-shaped vertebrae

Changes in these genes cause rare conditions in which Pear-shaped vertebrae is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
EXTL3exostosin like glycosyltransferase 3	Often (30–79%)	In 1 condition
MMP13matrix metallopeptidase 13	Often (30–79%)	In 2 conditions

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormal vertebral body morphology

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

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