Trait
Square face
Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.
Summary
- Also called
- Square facial shape, Square facies
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test16 genes linked to Square face
Changes in these genes cause rare conditions in which Square face 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 |
|---|---|---|
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| KLHL20kelch like family member 20 | Always | In 1 condition |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Always | In 1 condition |
| RAI1retinoic acid induced 1 | Always | In 2 conditions |
| PUF60poly(U) binding splicing factor 60 | Very often (80–99%) | In 2 conditions |
| ADAMTSL1ADAMTS like 1 | Often (30–79%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Often (30–79%) | In 1 condition |
| EP300EP300 lysine acetyltransferase | Often (30–79%) | In 1 condition |
| KDM5Blysine demethylase 5B | Often (30–79%) | In 1 condition |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Often (30–79%) | In 1 condition |
| SETD1BSET domain containing 1B, histone lysine methyltransferase | Often (30–79%) | In 1 condition |
| WACWW domain containing adaptor with coiled-coil | Often (30–79%) | In 1 condition |
| HIVEP2HIVEP zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| LIFRLIF receptor subunit alpha | Sometimes (5–29%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Not recorded | In 1 condition |
| IFT57intraflagellar transport 57 | 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.
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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