Trait
Scaphocephaly
Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.
Summary
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test41 genes linked to Scaphocephaly
Changes in these genes cause rare conditions in which Scaphocephaly 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 |
|---|---|---|
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Always | In 1 condition |
| DPH1diphthamide biosynthesis 1 | Always | In 2 conditions |
| IL6STinterleukin 6 cytokine family signal transducer | Always | In 1 condition |
| RYR1ryanodine receptor 1 | Always | In 1 condition |
| SCARF2scavenger receptor class F member 2 | Always | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Always | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Very often (80–99%) | In 1 condition |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Often (30–79%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Often (30–79%) | In 1 condition |
| IFT43intraflagellar transport 43 | Often (30–79%) | In 1 condition |
| KPTNkaptin, actin binding protein | Often (30–79%) | In 2 conditions |
| TBC1D7TBC1 domain family member 7 | Often (30–79%) | In 1 condition |
| TRAIPTRAF interacting protein | Often (30–79%) | In 1 condition |
| ARCN1archain 1 coat protein complex I subunit delta | Sometimes (5–29%) | In 1 condition |
| ASXL3ASXL transcriptional regulator 3 | Sometimes (5–29%) | In 1 condition |
| COL25A1collagen type XXV alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| DPH2diphthamide biosynthesis 2 | Sometimes (5–29%) | In 1 condition |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Sometimes (5–29%) | In 1 condition |
| IFT140intraflagellar transport 140 | Sometimes (5–29%) | In 1 condition |
| IL11RAinterleukin 11 receptor subunit alpha | Sometimes (5–29%) | In 1 condition |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Sometimes (5–29%) | In 1 condition |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Sometimes (5–29%) | In 1 condition |
| KIF15kinesin family member 15 | Sometimes (5–29%) | In 1 condition |
| NFIXnuclear factor I X | Sometimes (5–29%) | In 1 condition |
| PRIM1DNA primase subunit 1 | Sometimes (5–29%) | In 1 condition |
| RFX7regulatory factor X7 | Sometimes (5–29%) | In 1 condition |
| SCYL2SCY1 like pseudokinase 2 | Sometimes (5–29%) | In 1 condition |
| SOX6SRY-box transcription factor 6 | Sometimes (5–29%) | In 1 condition |
| AGO2argonaute RISC catalytic component 2 | Rarely (1–4%) | In 1 condition |
| GLI3GLI family zinc finger 3 | Rarely (1–4%) | In 2 conditions |
| RNU4-2RNA, U4 small nuclear 2 | Rarely (1–4%) | In 1 condition |
| CNTN1contactin 1 | Not recorded | In 1 condition |
| FBN1fibrillin 1 | Not recorded | In 1 condition |
| FBN2fibrillin 2 | Not recorded | In 1 condition |
| IDSiduronate 2-sulfatase | Not recorded | In 1 condition |
| IFT122intraflagellar transport 122 | Not recorded | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Not recorded | In 1 condition |
| PEX19peroxisomal biogenesis factor 19 | Not recorded | In 1 condition |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Not recorded | In 1 condition |
Show 1 more gene
| Gene | How often it is seen | Conditions |
|---|---|---|
| TWIST1twist family bHLH transcription factor 1 | 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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