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Trait

Abnormality of the skull base

Clinical name: Abnormal skull base morphology

An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.

HPO HP:0002693

Summary

Also called
Abnormality of cranial base
Body system
Abnormality of head or neckAbnormality of the musculoskeletal system

3 condition reports read genes linked to this trait

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3 genes linked to Abnormality of the skull base

Changes in these genes cause rare conditions in which Abnormality of the skull base 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
TBX15T-box transcription factor 15Very often (80–99%)In 1 condition
GNASGNAS complex locusOften (30–79%)In 1 condition
SIX2SIX homeobox 2Often (30–79%)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.

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Broader traits

Abnormality of the skull

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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