Trait

Craniofacial disproportion

HPO HP:0005461

Body system: Abnormality of head or neck

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6 genes linked to Craniofacial disproportion

Changes in these genes cause rare conditions in which Craniofacial disproportion 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
FIG4FIG4 phosphoinositide 5-phosphatase	Very often (80–99%)	In 1 condition
LMNAlamin A/C	Often (30–79%)	In 1 condition
ZMPSTE24zinc metallopeptidase STE24	Often (30–79%)	In 1 condition
CA2carbonic anhydrase 2	Sometimes (5–29%)	In 1 condition
KCNA1potassium voltage-gated channel subfamily A member 1	Sometimes (5–29%)	In 1 condition
IGF2insulin like growth 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.

Broader traits

Abnormal facial shape

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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