Trait

Vertebral fusion

A developmental defect leading to the union of two adjacent vertebrae.

Also called: Congenital spinal fusion, Congenitally fused vertebrae, Fusion of vertebral bodies, Vertebral body fusion
Body system: Abnormality of the musculoskeletal system

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37 genes linked to Vertebral fusion

Changes in these genes cause rare conditions in which Vertebral fusion 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
HES7hes family bHLH transcription factor 7	Always	In 1 condition
TBX6T-box transcription factor 6	Always	In 1 condition
DLL3delta like canonical Notch ligand 3	Very often (80–99%)	In 1 condition
GPC3glypican 3	Very often (80–99%)	In 1 condition
GPC4glypican 4	Very often (80–99%)	In 1 condition
MESP2mesoderm posterior bHLH transcription factor 2	Very often (80–99%)	In 1 condition
ANKRD11ankyrin repeat domain 11	Often (30–79%)	In 2 conditions
FLNBfilamin B	Often (30–79%)	In 3 conditions
MYH3myosin heavy chain 3	Often (30–79%)	In 2 conditions
NOTCH3notch receptor 3	Often (30–79%)	In 1 condition
PTCH1patched 1	Often (30–79%)	In 2 conditions
PTCH2patched 2	Often (30–79%)	In 1 condition
SOX5SRY-box transcription factor 5	Often (30–79%)	In 1 condition
SUFUSUFU negative regulator of hedgehog signaling	Often (30–79%)	In 1 condition
TMCO1transmembrane and coiled-coil domains 1	Often (30–79%)	In 1 condition
COL2A1collagen type II alpha 1 chain	Sometimes (5–29%)	In 1 condition
FN1fibronectin 1	Sometimes (5–29%)	In 1 condition
KANSL1KAT8 regulatory NSL complex subunit 1	Sometimes (5–29%)	In 1 condition
PORCNporcupine O-acyltransferase	Sometimes (5–29%)	In 1 condition
PUF60poly(U) binding splicing factor 60	Sometimes (5–29%)	In 1 condition
SALL4spalt like transcription factor 4	Sometimes (5–29%)	In 1 condition
CHRNA1cholinergic receptor nicotinic alpha 1 subunit	Not recorded	In 1 condition
CHRNDcholinergic receptor nicotinic delta subunit	Not recorded	In 1 condition
CHRNGcholinergic receptor nicotinic gamma subunit	Not recorded	In 1 condition
CPLX1complexin 1	Not recorded	In 1 condition
CTBP1C-terminal binding protein 1	Not recorded	In 1 condition
FGFRL1fibroblast growth factor receptor like 1	Not recorded	In 1 condition
FKRPfukutin related protein	Not recorded	In 2 conditions
GDF5growth differentiation factor 5	Not recorded	In 1 condition
HGDhomogentisate 1,2-dioxygenase	Not recorded	In 1 condition
LETM1leucine zipper and EF-hand containing transmembrane protein 1	Not recorded	In 1 condition
NADSYN1NAD synthetase 1	Not recorded	In 1 condition
NSD2nuclear receptor binding SET domain protein 2	Not recorded	In 1 condition
ROR2ROR family WNT receptor 2	Not recorded	In 2 conditions
SIX6SIX homeobox 6	Not recorded	In 1 condition
SMAD4SMAD family member 4	Not recorded	In 1 condition
SOX2SRY-box transcription factor 2	Not recorded	In 1 condition

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.

Narrower traits

Broader traits

Fusion of joints Vertebral segmentation defect

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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