Trait
Abnormality of the cheek
Clinical name: Abnormal cheek morphology
An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. "Buccal" means relating to the cheek. The cheek is part of the midface
Summary
- Also called
- Abnormality of the cheeks, Anomaly of the cheeks, Deformity of the cheeks, Malformation of the cheeks
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
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Get my Genome Test7 genes linked to Abnormality of the cheek
Changes in these genes cause rare conditions in which Abnormality of the cheek 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 |
|---|---|---|
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Very often (80–99%) | In 1 condition |
| CYP26C1cytochrome P450 family 26 subfamily C member 1 | Very often (80–99%) | In 1 condition |
| LRP1LDL receptor related protein 1 | Very often (80–99%) | In 1 condition |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Often (30–79%) | In 1 condition |
| FBLN5fibulin 5 | Often (30–79%) | In 1 condition |
| KAT6Blysine acetyltransferase 6B | Often (30–79%) | In 1 condition |
| LTBP1latent transforming growth factor beta binding protein 1 | Often (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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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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