Trait

Rounded neck

Clinical name: Cervical kyphosis

Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.

HPO HP:0002947

Body system: Abnormality of the musculoskeletal system

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9 genes linked to Rounded neck

Changes in these genes cause rare conditions in which Rounded neck 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
SOX9SRY-box transcription factor 9	Always	In 1 condition
CHST14carbohydrate sulfotransferase 14	Often (30–79%)	In 1 condition
DSEdermatan sulfate epimerase	Often (30–79%)	In 1 condition
HSPG2heparan sulfate proteoglycan 2	Often (30–79%)	In 1 condition
RIPPLY2ripply transcriptional repressor 2	Often (30–79%)	In 1 condition
SLC26A2solute carrier family 26 member 2	Often (30–79%)	In 5 conditions
ARSLarylsulfatase L	Sometimes (5–29%)	In 1 condition
GZF1GDNF inducible zinc finger protein 1	Sometimes (5–29%)	In 1 condition
FLNBfilamin B	Not recorded	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 neck curve Hunched back

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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