Trait
Abnormality of the skull
Clinical name: Abnormal skull morphology
An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.
Summary
- Also called
- Abnormality of the skull bones
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test43 genes linked to Abnormality of the skull
Changes in these genes cause rare conditions in which Abnormality of the skull 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 |
|---|---|---|
| ANTXR2ANTXR cell adhesion molecule 2 | Very often (80–99%) | In 1 condition |
| ATP7AATPase copper transporting alpha | Very often (80–99%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Very often (80–99%) | In 3 conditions |
| FGFR3fibroblast growth factor receptor 3 | Very often (80–99%) | In 1 condition |
| HPGD15-hydroxyprostaglandin dehydrogenase | Very often (80–99%) | In 1 condition |
| MEGF8multiple EGF like domains 8 | Very often (80–99%) | In 1 condition |
| NOTCH2notch receptor 2 | Very often (80–99%) | In 1 condition |
| RAB23RAB23, member RAS oncogene family | Very often (80–99%) | In 1 condition |
| TGFB1transforming growth factor beta 1 | Very often (80–99%) | In 1 condition |
| TWIST1twist family bHLH transcription factor 1 | Very often (80–99%) | In 1 condition |
| AKT3AKT serine/threonine kinase 3 | Often (30–79%) | In 1 condition |
| ARVCFARVCF delta catenin family member | Often (30–79%) | In 1 condition |
| COMTcatechol-O-methyltransferase | Often (30–79%) | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Often (30–79%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 1 condition |
| GP1BBglycoprotein Ib platelet subunit beta | Often (30–79%) | In 1 condition |
| HIRAhistone cell cycle regulator | Often (30–79%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Often (30–79%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| MTHFRmethylenetetrahydrofolate reductase | Often (30–79%) | In 1 condition |
| MTORmechanistic target of rapamycin kinase | Often (30–79%) | In 1 condition |
| NOTCH3notch receptor 3 | Often (30–79%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Often (30–79%) | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Often (30–79%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Often (30–79%) | In 2 conditions |
| RREB1ras responsive element binding protein 1 | Often (30–79%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Often (30–79%) | In 1 condition |
| SLC25A24solute carrier family 25 member 24 | Often (30–79%) | In 1 condition |
| TBX1T-box transcription factor 1 | Often (30–79%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Often (30–79%) | In 1 condition |
| VANGL2VANGL planar cell polarity protein 2 | Often (30–79%) | In 1 condition |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Sometimes (5–29%) | In 1 condition |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Sometimes (5–29%) | In 1 condition |
| BUB3BUB3 mitotic checkpoint protein | Sometimes (5–29%) | In 1 condition |
| CEP57centrosomal protein 57 | Sometimes (5–29%) | In 1 condition |
| CHD6chromodomain helicase DNA binding protein 6 | Sometimes (5–29%) | In 1 condition |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Sometimes (5–29%) | In 1 condition |
| FBLN5fibulin 5 | Sometimes (5–29%) | In 1 condition |
| FERMT1FERM domain containing kindlin 1 | Sometimes (5–29%) | In 1 condition |
Show 3 more genes
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.
Narrower traits
- Abnormality of cranium17 genes
- Abnormal cranial suture/fontanelle morphology6 genes
- Abnormal sella turcica morphology5 genes
- Abnormality of facial bones3 genes
- Abnormality of the skull base3 genes
- Abnormal temporal bone morphology2 genes
- Craniofacial dysostosis2 genes
- Abnormal mastoid morphology1 gene
- Abnormal foramen magnum morphology
- Abnormal morphology of bony orbit of skull
- Abnormality of bone formation of cranium
- Abnormality of skull size
- Aplasia/Hypoplasia involving bones of the skull
- Cephalocele
Broader traits
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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