Trait
Enlargement of skull bones
Clinical name: Cranial hyperostosis
Excessive growth of the bones of cranium, i.e., of the skull.
Summary
- Also called
- Excessive growth of skull bones, Overgrowth of skull bones, Thick skull bones, Hyperostosis of cranial bones, Hyperostosis of cranial vault, Increased ossification of cranial bones
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Enlargement of skull bones, and the rest of your genome, with one test.
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Get my Genome Test15 genes linked to Enlargement of skull bones
Changes in these genes cause rare conditions in which Enlargement of skull 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 |
|---|---|---|
| ANKHANKH inorganic pyrophosphate transport regulator | Always | In 1 condition |
| IDUAalpha-L-iduronidase | Always | In 1 condition |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Always | In 1 condition |
| AKT1AKT serine/threonine kinase 1 | Very often (80–99%) | In 1 condition |
| LRP5LDL receptor related protein 5 | Very often (80–99%) | In 1 condition |
| PTDSS1phosphatidylserine synthase 1 | Very often (80–99%) | In 1 condition |
| SOSTsclerostin | Very often (80–99%) | In 2 conditions |
| TNFRSF11ATNF receptor superfamily member 11a | Very often (80–99%) | In 1 condition |
| TNFRSF11BTNF receptor superfamily member 11b | Very often (80–99%) | In 1 condition |
| GJA1gap junction protein alpha 1 | Often (30–79%) | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Sometimes (5–29%) | In 1 condition |
| THOC2THO complex subunit 2 | Sometimes (5–29%) | In 1 condition |
| CA2carbonic anhydrase 2 | Not recorded | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Not recorded | In 1 condition |
| TNFSF11TNF superfamily member 11 | 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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