Trait

Extra bones within cranial sutures

Clinical name: Wormian bones

The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.

HPO HP:0002645

Also called: Intra sutural bones, Intrasutural bones, Islands of bone within cranial sutures
Body system: Abnormality of head or neck Abnormality of the musculoskeletal system

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62 genes linked to Extra bones within cranial sutures

Changes in these genes cause rare conditions in which Extra bones within cranial sutures 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
BMP1bone morphogenetic protein 1	Always	In 1 condition
CCDC134coiled-coil domain containing 134	Always	In 1 condition
CREB3L1cAMP responsive element binding protein 3 like 1	Always	In 1 condition
ERI1exoribonuclease 1	Always	In 1 condition
FLNAfilamin A	Always	In 1 condition
GINS3GINS complex subunit 3	Always	In 1 condition
GNPNAT1glucosamine-phosphate N-acetyltransferase 1	Always	In 1 condition
LMNAlamin A/C	Always	In 2 conditions
NOTCH2notch receptor 2	Always	In 2 conditions
PPIBpeptidylprolyl isomerase B	Always	In 1 condition
PRKG2protein kinase cGMP-dependent 2	Always	In 1 condition
SP7Sp7 transcription factor	Always	In 1 condition
ATP6V0A2ATPase H+ transporting V0 subunit a2	Very often (80–99%)	In 2 conditions
FKBP10FKBP prolyl isomerase 10	Very often (80–99%)	In 2 conditions
KIF1Akinesin family member 1A	Very often (80–99%)	In 1 condition
NOTCH3notch receptor 3	Very often (80–99%)	In 2 conditions
PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2	Very often (80–99%)	In 2 conditions
RETREG1reticulophagy regulator 1	Very often (80–99%)	In 1 condition
RUNX2RUNX family transcription factor 2	Very often (80–99%)	In 2 conditions
SCN9Asodium voltage-gated channel alpha subunit 9	Very often (80–99%)	In 1 condition
WNK1WNK lysine deficient protein kinase 1	Very often (80–99%)	In 1 condition
ARID2AT-rich interaction domain 2	Often (30–79%)	In 1 condition
ATP7AATPase copper transporting alpha	Often (30–79%)	In 2 conditions
CRTAPcartilage associated protein	Often (30–79%)	In 2 conditions
IFITM5interferon induced transmembrane protein 5	Often (30–79%)	In 1 condition
KDELR2KDEL endoplasmic reticulum protein retention receptor 2	Often (30–79%)	In 1 condition
LEMD2LEM domain nuclear envelope protein 2	Often (30–79%)	In 1 condition
MESDmesoderm development LRP chaperone	Often (30–79%)	In 1 condition
NFIXnuclear factor I X	Often (30–79%)	In 1 condition
P4HBprolyl 4-hydroxylase subunit beta	Often (30–79%)	In 2 conditions
PYCR1pyrroline-5-carboxylate reductase 1	Often (30–79%)	In 1 condition
SEC24DSEC24 homolog D, COPII component	Often (30–79%)	In 2 conditions
TENT5Aterminal nucleotidyltransferase 5A	Often (30–79%)	In 1 condition
AFF4ALF transcription elongation factor 4	Sometimes (5–29%)	In 1 condition
ALDH18A1aldehyde dehydrogenase 18 family member A1	Sometimes (5–29%)	In 3 conditions
CHD4chromodomain helicase DNA binding protein 4	Sometimes (5–29%)	In 1 condition
COL1A1collagen type I alpha 1 chain	Sometimes (5–29%)	In 5 conditions
COL1A2collagen type I alpha 2 chain	Sometimes (5–29%)	In 5 conditions
CTSKcathepsin K	Sometimes (5–29%)	In 2 conditions
DLK1delta like non-canonical Notch ligand 1	Sometimes (5–29%)	In 1 condition

Show 22 more genes

Gene	How often it is seen	Conditions
HSPG2heparan sulfate proteoglycan 2	Sometimes (5–29%)	In 1 condition
LRP5LDL receptor related protein 5	Sometimes (5–29%)	In 1 condition
MEG3maternally expressed 3	Sometimes (5–29%)	In 1 condition
MSX2msh homeobox 2	Sometimes (5–29%)	In 2 conditions
NEK1NIMA related kinase 1	Sometimes (5–29%)	In 1 condition
P3H1prolyl 3-hydroxylase 1	Sometimes (5–29%)	In 1 condition
PDGFRBplatelet derived growth factor receptor beta	Sometimes (5–29%)	In 1 condition
POGZpogo transposable element derived with ZNF domain	Sometimes (5–29%)	In 1 condition
RTL1retrotransposon Gag like 1	Sometimes (5–29%)	In 1 condition
SETBP1SET binding protein 1	Sometimes (5–29%)	In 2 conditions
SFRP4secreted frizzled related protein 4	Sometimes (5–29%)	In 1 condition
SMOsmoothened, frizzled class receptor	Sometimes (5–29%)	In 1 condition
ELNelastin	Rarely (1–4%)	In 1 condition
FBLN5fibulin 5	Rarely (1–4%)	In 1 condition
AIFM1apoptosis inducing factor mitochondria associated 1	Not recorded	In 1 condition
BCL11BBCL11 transcription factor B	Not recorded	In 1 condition
HPGD15-hydroxyprostaglandin dehydrogenase	Not recorded	In 1 condition
PAM16presequence translocase associated motor 16	Not recorded	In 1 condition
SH3PXD2BSH3 and PX domains 2B	Not recorded	In 1 condition
TAPT1transmembrane anterior posterior transformation 1	Not recorded	In 1 condition
THRAthyroid hormone receptor alpha	Not recorded	In 1 condition
ZMPSTE24zinc metallopeptidase STE24	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

Abnormality of cranial sutures

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 2026.10.17-8666dff2.

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