Trait
Abnormality of the midface
Clinical name: Abnormal midface morphology
An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.
Summary
- Also called
- Deformity of the midface, Malformation of the midface, Abnormal morphology of the midface, Anomaly of the midface
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
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Get my Genome Test4 genes linked to Abnormality of the midface
Changes in these genes cause rare conditions in which Abnormality of the midface 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 |
|---|---|---|
| CDH11cadherin 11 | Very often (80–99%) | In 1 condition |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Very often (80–99%) | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Often (30–79%) | In 1 condition |
| PTRH2peptidyl-tRNA hydrolase 2 | 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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