Trait
Wide fontanelles
Clinical name: Large fontanelles
In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.
Summary
- Also called
- Enlarged fontanelles, Large fontanel, Large fontanelle, Large fontanels, Persistent wide fontanel
Reference genomeGRCh38hg38
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Get my Genome Test73 genes linked to Wide fontanelles
Changes in these genes cause rare conditions in which Wide fontanelles 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 |
|---|---|---|
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Always | In 1 condition |
| CHST14carbohydrate sulfotransferase 14 | Always | In 2 conditions |
| FGFR2fibroblast growth factor receptor 2 | Always | In 2 conditions |
| GJA1gap junction protein alpha 1 | Always | In 1 condition |
| INPPL1inositol polyphosphate phosphatase like 1 | Always | In 2 conditions |
| PEX14peroxisomal biogenesis factor 14 | Always | In 1 condition |
| PYCR1pyrroline-5-carboxylate reductase 1 | Always | In 2 conditions |
| RNU12RNA, U12 small nuclear | Always | In 1 condition |
| ATP7AATPase copper transporting alpha | Very often (80–99%) | In 1 condition |
| DSEdermatan sulfate epimerase | Very often (80–99%) | In 1 condition |
| FAM20CFAM20C golgi associated secretory pathway kinase | Very often (80–99%) | In 2 conditions |
| FIG4FIG4 phosphoinositide 5-phosphatase | Very often (80–99%) | In 1 condition |
| FLNAfilamin A | Very often (80–99%) | In 1 condition |
| FOXE1forkhead box E1 | Very often (80–99%) | In 1 condition |
| HPGD15-hydroxyprostaglandin dehydrogenase | Very often (80–99%) | In 2 conditions |
| LMNAlamin A/C | Very often (80–99%) | In 1 condition |
| MVKmevalonate kinase | Very often (80–99%) | In 2 conditions |
| NKX2-1NK2 homeobox 1 | Very often (80–99%) | In 1 condition |
| NKX2-5NK2 homeobox 5 | Very often (80–99%) | In 3 conditions |
| PAX8paired box 8 | Very often (80–99%) | In 3 conditions |
| PTDSS1phosphatidylserine synthase 1 | Very often (80–99%) | In 2 conditions |
| RECQL4RecQ like helicase 4 | Very often (80–99%) | In 2 conditions |
| RUNX2RUNX family transcription factor 2 | Very often (80–99%) | In 2 conditions |
| SEC23ASEC23 homolog A, COPII component | Very often (80–99%) | In 1 condition |
| SLC26A4solute carrier family 26 member 4 | Very often (80–99%) | In 2 conditions |
| TSHRthyroid stimulating hormone receptor | Very often (80–99%) | In 2 conditions |
| ZMPSTE24zinc metallopeptidase STE24 | Very often (80–99%) | In 2 conditions |
| ZSWIM6zinc finger SWIM-type containing 6 | Very often (80–99%) | In 1 condition |
| ACTBactin beta | Often (30–79%) | In 1 condition |
| ACTG1actin gamma 1 | Often (30–79%) | In 1 condition |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Often (30–79%) | In 1 condition |
| ADAMTSL2ADAMTS like 2 | Often (30–79%) | In 1 condition |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Often (30–79%) | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Often (30–79%) | In 2 conditions |
| CAV1caveolin 1 | Often (30–79%) | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Often (30–79%) | In 2 conditions |
| COL1A2collagen type I alpha 2 chain | Often (30–79%) | In 2 conditions |
| CTNNB1catenin beta 1 | Often (30–79%) | In 1 condition |
| DCHS1dachsous cadherin-related 1 | Often (30–79%) | In 1 condition |
| FAT4FAT atypical cadherin 4 | Often (30–79%) | In 1 condition |
Show 33 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| LTBP4latent transforming growth factor beta binding protein 4 | Often (30–79%) | In 1 condition |
| MAFMAF bZIP transcription factor | Often (30–79%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Often (30–79%) | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Often (30–79%) | In 1 condition |
| SHPKsedoheptulokinase | Often (30–79%) | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Sometimes (5–29%) | In 1 condition |
| ASXL3ASXL transcriptional regulator 3 | Sometimes (5–29%) | In 1 condition |
| CLCN3Cl-/H+ antiporter 3 | Sometimes (5–29%) | In 1 condition |
| HNF1BHNF1 homeobox B | Sometimes (5–29%) | In 1 condition |
| HOXD13homeobox D13 | Sometimes (5–29%) | In 1 condition |
| KLHL40kelch like family member 40 | Sometimes (5–29%) | In 1 condition |
| KLHL41kelch like family member 41 | Sometimes (5–29%) | In 1 condition |
| LHX1LIM homeobox 1 | Sometimes (5–29%) | In 1 condition |
| LMOD3leiomodin 3 | Sometimes (5–29%) | In 1 condition |
| MID1midline 1 | Sometimes (5–29%) | In 1 condition |
| NEBnebulin | Sometimes (5–29%) | In 2 conditions |
| NPHP3nephrocystin 3 | Sometimes (5–29%) | In 1 condition |
| RBM10RNA binding motif protein 10 | Sometimes (5–29%) | In 2 conditions |
| RBMXRNA binding motif protein X-linked | Sometimes (5–29%) | In 1 condition |
| USP7ubiquitin specific peptidase 7 | Sometimes (5–29%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Not recorded | In 1 condition |
| BMPERBMP binding endothelial regulator | Not recorded | In 1 condition |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Not recorded | In 1 condition |
| GNPATglyceronephosphate O-acyltransferase | Not recorded | In 1 condition |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Not recorded | In 1 condition |
| IGF2insulin like growth factor 2 | Not recorded | In 1 condition |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Not recorded | In 1 condition |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Not recorded | In 1 condition |
| PAM16presequence translocase associated motor 16 | Not recorded | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Not recorded | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Not recorded | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | 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.
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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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