Trait

Enlargement of craniofacial bones

Clinical name: Craniofacial hyperostosis

Excessive growth of the craniofacial bones.

HPO HP:0004493

Also called: Excessive bone growth of the skull and face, Excessive growth of craniofacial bones, Overgrowth of craniofacial bones, Thick craniofacial bones, Hyperostosis of craniofacial bones, Increased ossification of craniofacial bones
Body system: Abnormality of head or neck Abnormality of the musculoskeletal system

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24 genes linked to Enlargement of craniofacial bones

Changes in these genes cause rare conditions in which Enlargement of craniofacial bones 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
SOSTsclerostin	Always	In 3 conditions
ANKHANKH inorganic pyrophosphate transport regulator	Very often (80–99%)	In 1 condition
GJA1gap junction protein alpha 1	Very often (80–99%)	In 1 condition
LRP4LDL receptor related protein 4	Very often (80–99%)	In 1 condition
LRP5LDL receptor related protein 5	Very often (80–99%)	In 1 condition
RPS6KA3ribosomal protein S6 kinase A3	Very often (80–99%)	In 1 condition
SLC29A3solute carrier family 29 member 3	Very often (80–99%)	In 1 condition
SMAD4SMAD family member 4	Very often (80–99%)	In 1 condition
SP7Sp7 transcription factor	Very often (80–99%)	In 1 condition
TBXAS1thromboxane A synthase 1	Very often (80–99%)	In 1 condition
TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	Very often (80–99%)	In 1 condition
TNFRSF11ATNF receptor superfamily member 11a	Very often (80–99%)	In 1 condition
FGFR1fibroblast growth factor receptor 1	Often (30–79%)	In 1 condition
FLNAfilamin A	Often (30–79%)	In 1 condition
KRASKRas proto-oncogene, GTPase	Often (30–79%)	In 1 condition
NOTCH3notch receptor 3	Often (30–79%)	In 1 condition
DDB2damage specific DNA binding protein 2	Sometimes (5–29%)	In 1 condition
ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit	Sometimes (5–29%)	In 1 condition
ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit	Sometimes (5–29%)	In 1 condition
ERCC4ERCC excision repair 4, endonuclease catalytic subunit	Sometimes (5–29%)	In 1 condition
ERCC5ERCC excision repair 5, endonuclease	Sometimes (5–29%)	In 1 condition
XPAXPA, DNA damage recognition and repair factor	Sometimes (5–29%)	In 1 condition
XPCXPC complex subunit, DNA damage recognition and repair factor	Sometimes (5–29%)	In 1 condition
GNASGNAS complex locus	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.

Narrower traits

Enlargement of facial bones5 genes

Broader traits

Abnormality of facial bones Abnormality of the face Enlargement of skull bones

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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