Trait
Abnormality of cranium
Clinical name: Abnormal calvaria morphology
Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.
Summary
- Also called
- Abnormality of the skull cap, Abnormality of the skullcap, Abnormality of calvarium, Abnormality of cranial vault, Abnormality of the calvaria, Abnormality of the shape of calvarium
Reference genomeGRCh38hg38
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Get my Genome Test17 genes linked to Abnormality of cranium
Changes in these genes cause rare conditions in which Abnormality of cranium 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 |
|---|---|---|
| CACHD1cache domain containing 1 | Always | In 1 condition |
| SCO2synthesis of cytochrome C oxidase 2 | Always | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Very often (80–99%) | In 1 condition |
| KATNB1katanin regulatory subunit B1 | Often (30–79%) | In 1 condition |
| MTHFRmethylenetetrahydrofolate reductase | Often (30–79%) | In 1 condition |
| NDE1nudE neurodevelopment protein 1 | Often (30–79%) | In 1 condition |
| PDHBpyruvate dehydrogenase E1 subunit beta | Often (30–79%) | In 1 condition |
| RELNreelin | Often (30–79%) | In 1 condition |
| SHOXSHOX homeobox | Often (30–79%) | In 1 condition |
| VANGL2VANGL planar cell polarity protein 2 | Often (30–79%) | In 1 condition |
| GLI3GLI family zinc finger 3 | Sometimes (5–29%) | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Sometimes (5–29%) | In 1 condition |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Sometimes (5–29%) | In 1 condition |
| KITKIT proto-oncogene, receptor tyrosine kinase | Sometimes (5–29%) | In 1 condition |
| MSL2MSL complex subunit 2 | Sometimes (5–29%) | In 1 condition |
| SNAI2snail family transcriptional repressor 2 | Sometimes (5–29%) | In 1 condition |
| VCPvalosin containing protein | Sometimes (5–29%) | 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.
Narrower traits
- Broad head shape256 genes
- Long, narrow head209 genes
- Deformity of the skull158 genes
- Asymmetry of the posterior head157 genes
- Decreased width of the skull64 genes
- Triangular head shape48 genes
- Increased thickness of skull cap42 genes
- Tall shaped head40 genes
- Cranial defect28 genes
- Flattening of the skull base20 genes
- Soft skullcap17 genes
- Enlargement of skull bones15 genes
- Abnormality of head shape10 genes
- Abnormal parietal bone morphology9 genes
- Cloverleaf cranium shape8 genes
- Skull asymmetry8 genes
- Abnormal occipital bone morphology3 genes
- Broad skull3 genes
- Dense skull cap3 genes
- Abnormality of the bone of the forehead2 genes
- Copper beaten skull2 genes
- Thin cranial bone2 genes
- Acrania1 gene
- Aplasia/Hypoplasia of the calvaria1 gene
- Obliteration of the calvarial diploe1 gene
- Platystencephaly1 gene
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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