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Trait

Increased thickness of skull cap

Clinical name: Thickened calvaria

The presence of an abnormally thick calvaria.

HPO HP:0002684

Summary

Also called
Thickened skull cap, Calvarial thickening, Calvarium thickened, Increased calvarial thickness, Increased thickness of calvaria, Increased thickness of calvarium, Increased thickness of cranial vault, Thick calvaria, Thick calvarium, Thickened calvarium, Thickened cranial vault, Thickened cranium, Thickening of the calvaria
Body system
Abnormality of head or neckAbnormality of the musculoskeletal system

42 genes linked to Increased thickness of skull cap

Changes in these genes cause rare conditions in which Increased thickness of skull cap 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.

GeneHow often it is seenConditions
ANKHANKH inorganic pyrophosphate transport regulatorAlwaysIn 1 condition
AXIN1axin 1AlwaysIn 1 condition
FLNAfilamin AAlwaysIn 3 conditions
LRP4LDL receptor related protein 4AlwaysIn 1 condition
NONOnon-POU domain containing octamer bindingAlwaysIn 2 conditions
PLEKHM1pleckstrin homology and RUN domain containing M1AlwaysIn 1 condition
PTH1Rparathyroid hormone 1 receptorAlwaysIn 1 condition
SMAD4SMAD family member 4AlwaysIn 1 condition
SMSspermine synthaseAlwaysIn 1 condition
TMEM53transmembrane protein 53AlwaysIn 1 condition
TMEM67transmembrane protein 67AlwaysIn 1 condition
AMER1APC membrane recruitment protein 1Very often (80–99%)In 2 conditions
CDH11cadherin 11Very often (80–99%)In 1 condition
CTNNB1catenin beta 1Very often (80–99%)In 1 condition
IFIH1interferon induced with helicase C domain 1Very often (80–99%)In 1 condition
LRP5LDL receptor related protein 5Very often (80–99%)In 2 conditions
PTDSS1phosphatidylserine synthase 1Very often (80–99%)In 1 condition
AGAaspartylglucosaminidaseOften (30–79%)In 2 conditions
COL11A1collagen type XI alpha 1 chainOften (30–79%)In 2 conditions
DVL1dishevelled segment polarity protein 1Often (30–79%)In 1 condition
GNASGNAS complex locusOften (30–79%)In 2 conditions
NOTCH3notch receptor 3Often (30–79%)In 1 condition
POLR3ARNA polymerase III subunit AOften (30–79%)In 1 condition
AP1S2adaptor related protein complex 1 subunit sigma 2Sometimes (5–29%)In 2 conditions
CA2carbonic anhydrase 2Sometimes (5–29%)In 1 condition
GLB1galactosidase beta 1Sometimes (5–29%)In 1 condition
MAN2B1mannosidase alpha class 2B member 1Sometimes (5–29%)In 2 conditions
PDE4Dphosphodiesterase 4DSometimes (5–29%)In 1 condition
SNX14sorting nexin 14Sometimes (5–29%)In 1 condition
ACBD6acyl-CoA binding domain containing 6Rarely (1–4%)In 1 condition
DYMdymeclinNot recordedIn 1 condition
ERCC6ERCC excision repair 6, chromatin remodeling factorNot recordedIn 1 condition
ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunitNot recordedIn 1 condition
GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and betaNot recordedIn 1 condition
HPGD15-hydroxyprostaglandin dehydrogenaseNot recordedIn 1 condition
PHF6PHD finger protein 6Not recordedIn 1 condition
RPS6KA3ribosomal protein S6 kinase A3Not recordedIn 1 condition
RUNX2RUNX family transcription factor 2Not recordedIn 1 condition
SFRP4secreted frizzled related protein 4Not recordedIn 1 condition
SGMS2sphingomyelin synthase 2Not recordedIn 1 condition
Show 2 more genes
GeneHow often it is seenConditions
SLC17A5solute carrier family 17 member 5Not recordedIn 1 condition
TNFRSF11BTNF receptor superfamily member 11bNot recordedIn 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 cranium

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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