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Trait

Oxycephaly

Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.

HPO HP:0000263

Summary

Body system
Abnormality of head or neckAbnormality of the musculoskeletal system

3 condition reports read genes linked to this trait

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7 genes linked to Oxycephaly

Changes in these genes cause rare conditions in which Oxycephaly 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.

GeneHow often it is seenConditions
MEGF8multiple EGF like domains 8Very often (80–99%)In 2 conditions
RAB23RAB23, member RAS oncogene familyVery often (80–99%)In 1 condition
IL11RAinterleukin 11 receptor subunit alphaSometimes (5–29%)In 1 condition
RECQL4RecQ like helicase 4Sometimes (5–29%)In 1 condition
SOX6SRY-box transcription factor 6Sometimes (5–29%)In 1 condition
FGFR2fibroblast growth factor receptor 2Not recordedIn 1 condition
TWIST1twist family bHLH transcription factor 1Not recordedIn 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

Tall shaped head

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 2026.10.18-8b139e39.

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