Trait
Enlargement of facial bones
Clinical name: Facial hyperostosis
Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.
Summary
- Also called
- Enlargement of facial skeleton, Enlargement of the facial bones, Excessive growth of facial bones, Excessive growth of facial skeleton, Increase in size of the facial bones, Overgrowth of facial bones, Overgrowth of facial skeleton, Overgrowth of the facial bones, Hyperostosis of facial bones, Hyperostosis of facial skeleton, Hypertrophy of the facial bones
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Enlargement of facial bones, and the rest of your genome, with one test.
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Get my Genome Test5 genes linked to Enlargement of facial bones
Changes in these genes cause rare conditions in which Enlargement of facial bones 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 |
|---|---|---|
| GJA1gap junction protein alpha 1 | Always | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Very often (80–99%) | In 1 condition |
| CTNNB1catenin beta 1 | Very often (80–99%) | In 1 condition |
| PTDSS1phosphatidylserine synthase 1 | Very often (80–99%) | In 1 condition |
| AKT1AKT serine/threonine kinase 1 | 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.
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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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