Trait
Webbed neck
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
Summary
- Also called
- Neck webbing, Pterygium colli
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test128 genes linked to Webbed neck
Changes in these genes cause rare conditions in which Webbed neck 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 |
|---|---|---|
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Always | In 7 conditions |
| ERI1exoribonuclease 1 | Always | In 1 condition |
| HYAL2hyaluronidase 2 | Always | In 1 condition |
| MYO18Bmyosin XVIIIB | Always | In 1 condition |
| RC3H1ring finger and CCCH-type domains 1 | Always | In 1 condition |
| SLC39A13solute carrier family 39 member 13 | Always | In 1 condition |
| SMSspermine synthase | Always | In 2 conditions |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Always | In 2 conditions |
| SPRED2sprouty related EVH1 domain containing 2 | Always | In 2 conditions |
| CBLCbl proto-oncogene | Very often (80–99%) | In 2 conditions |
| CHRNGcholinergic receptor nicotinic gamma subunit | Very often (80–99%) | In 1 condition |
| GDF3growth differentiation factor 3 | Very often (80–99%) | In 1 condition |
| GDF6growth differentiation factor 6 | Very often (80–99%) | In 2 conditions |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 4 conditions |
| LZTR1leucine zipper like post translational regulator 1 | Very often (80–99%) | In 3 conditions |
| MAP2K2mitogen-activated protein kinase kinase 2 | Very often (80–99%) | In 3 conditions |
| MEOX1mesenchyme homeobox 1 | Very often (80–99%) | In 1 condition |
| MRASmuscle RAS oncogene homolog | Very often (80–99%) | In 1 condition |
| MYH3myosin heavy chain 3 | Very often (80–99%) | In 4 conditions |
| NALCNsodium leak channel, non-selective | Very often (80–99%) | In 1 condition |
| NF1neurofibromin 1 | Very often (80–99%) | In 4 conditions |
| NRASNRAS proto-oncogene, GTPase | Very often (80–99%) | In 2 conditions |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Very often (80–99%) | In 2 conditions |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Very often (80–99%) | In 4 conditions |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Very often (80–99%) | In 4 conditions |
| RASA2RAS p21 protein activator 2 | Very often (80–99%) | In 1 condition |
| RIT1Ras like without CAAX 1 | Very often (80–99%) | In 2 conditions |
| RRASRAS related | Very often (80–99%) | In 1 condition |
| RRAS2RAS related 2 | Very often (80–99%) | In 1 condition |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Very often (80–99%) | In 2 conditions |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Very often (80–99%) | In 2 conditions |
| TNNI2troponin I2, fast skeletal type | Very often (80–99%) | In 2 conditions |
| TNNT3troponin T3, fast skeletal type | Very often (80–99%) | In 1 condition |
| TPM2tropomyosin 2 | Very often (80–99%) | In 2 conditions |
| AEBP1AE binding protein 1 | Often (30–79%) | In 2 conditions |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Often (30–79%) | In 1 condition |
| ALPK3alpha kinase 3 | Often (30–79%) | In 1 condition |
| ANKRD11ankyrin repeat domain 11 | Often (30–79%) | In 2 conditions |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Often (30–79%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Often (30–79%) | In 2 conditions |
Show 88 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| C2CD3C2 domain containing 3 centriole elongation regulator | Often (30–79%) | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Often (30–79%) | In 1 condition |
| FANCLFA complementation group L | Often (30–79%) | In 1 condition |
| FILIP1filamin A interacting protein 1 | Often (30–79%) | In 1 condition |
| GLE1GLE1 RNA export mediator | Often (30–79%) | In 1 condition |
| GPC3glypican 3 | Often (30–79%) | In 1 condition |
| GPC4glypican 4 | Often (30–79%) | In 1 condition |
| LAMA5laminin subunit alpha 5 | Often (30–79%) | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Often (30–79%) | In 4 conditions |
| MAPK1mitogen-activated protein kinase 1 | Often (30–79%) | In 1 condition |
| MSL2MSL complex subunit 2 | Often (30–79%) | In 1 condition |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 1 condition |
| TASP1taspase 1 | Often (30–79%) | In 1 condition |
| XYLT2xylosyltransferase 2 | Often (30–79%) | In 2 conditions |
| ACTBactin beta | Sometimes (5–29%) | In 1 condition |
| ACTG1actin gamma 1 | Sometimes (5–29%) | In 2 conditions |
| ADA2adenosine deaminase 2 | Sometimes (5–29%) | In 1 condition |
| BCORBCL6 corepressor | Sometimes (5–29%) | In 2 conditions |
| CDC42cell division cycle 42 | Sometimes (5–29%) | In 2 conditions |
| CHN1chimerin 1 | Sometimes (5–29%) | In 1 condition |
| CPLX1complexin 1 | Sometimes (5–29%) | In 1 condition |
| CTBP1C-terminal binding protein 1 | Sometimes (5–29%) | In 1 condition |
| DVL3dishevelled segment polarity protein 3 | Sometimes (5–29%) | In 1 condition |
| EFNB1ephrin B1 | Sometimes (5–29%) | In 1 condition |
| FBXO22F-box protein 22 | Sometimes (5–29%) | In 1 condition |
| FBXW11F-box and WD repeat domain containing 11 | Sometimes (5–29%) | In 1 condition |
| FGFRL1fibroblast growth factor receptor like 1 | Sometimes (5–29%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sometimes (5–29%) | In 1 condition |
| FOXC2forkhead box C2 | Sometimes (5–29%) | In 2 conditions |
| GATA1GATA binding protein 1 | Sometimes (5–29%) | In 1 condition |
| GATA2GATA binding protein 2 | Sometimes (5–29%) | In 1 condition |
| HEATR3HEAT repeat containing 3 | Sometimes (5–29%) | In 1 condition |
| KMT2Alysine methyltransferase 2A | Sometimes (5–29%) | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Sometimes (5–29%) | In 1 condition |
| LMNAlamin A/C | Sometimes (5–29%) | In 1 condition |
| LMX1BLIM homeobox transcription factor 1 beta | Sometimes (5–29%) | In 1 condition |
| MAFBMAF bZIP transcription factor B | Sometimes (5–29%) | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Sometimes (5–29%) | In 1 condition |
| MEGF8multiple EGF like domains 8 | Sometimes (5–29%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sometimes (5–29%) | In 2 conditions |
| NSD2nuclear receptor binding SET domain protein 2 | Sometimes (5–29%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| RB1RB transcriptional corepressor 1 | Sometimes (5–29%) | In 1 condition |
| RPL11ribosomal protein L11 | Sometimes (5–29%) | In 1 condition |
| RPL15ribosomal protein L15 | Sometimes (5–29%) | In 1 condition |
| RPL18ribosomal protein L18 | Sometimes (5–29%) | In 1 condition |
| RPL26ribosomal protein L26 | Sometimes (5–29%) | In 1 condition |
| RPL27ribosomal protein L27 | Sometimes (5–29%) | In 1 condition |
| RPL31ribosomal protein L31 | Sometimes (5–29%) | In 1 condition |
| RPL35ribosomal protein L35 | Sometimes (5–29%) | In 1 condition |
| RPL35Aribosomal protein L35a | Sometimes (5–29%) | In 1 condition |
| RPL5ribosomal protein L5 | Sometimes (5–29%) | In 1 condition |
| RPL8ribosomal protein L8 | Sometimes (5–29%) | In 1 condition |
| RPL9ribosomal protein L9 | Sometimes (5–29%) | In 1 condition |
| RPS10ribosomal protein S10 | Sometimes (5–29%) | In 2 conditions |
| RPS15Aribosomal protein S15a | Sometimes (5–29%) | In 1 condition |
| RPS17ribosomal protein S17 | Sometimes (5–29%) | In 1 condition |
| RPS19ribosomal protein S19 | Sometimes (5–29%) | In 2 conditions |
| RPS20ribosomal protein S20 | Sometimes (5–29%) | In 1 condition |
| RPS24ribosomal protein S24 | Sometimes (5–29%) | In 2 conditions |
| RPS26ribosomal protein S26 | Sometimes (5–29%) | In 1 condition |
| RPS27ribosomal protein S27 | Sometimes (5–29%) | In 1 condition |
| RPS28ribosomal protein S28 | Sometimes (5–29%) | In 1 condition |
| RPS29ribosomal protein S29 | Sometimes (5–29%) | In 1 condition |
| RPS7ribosomal protein S7 | Sometimes (5–29%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Sometimes (5–29%) | In 2 conditions |
| SRYsex determining region Y | Sometimes (5–29%) | In 1 condition |
| STXBP1syntaxin binding protein 1 | Sometimes (5–29%) | In 1 condition |
| TBX2T-box transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| TMEM260transmembrane protein 260 | Sometimes (5–29%) | In 1 condition |
| TMEM94transmembrane protein 94 | Sometimes (5–29%) | In 1 condition |
| TSR2TSR2 ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| WBP11WW domain binding protein 11 | Sometimes (5–29%) | In 1 condition |
| ZMPSTE24zinc metallopeptidase STE24 | Sometimes (5–29%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Rarely (1–4%) | In 2 conditions |
| NKX2-1NK2 homeobox 1 | Rarely (1–4%) | In 1 condition |
| SEMA3Esemaphorin 3E | Rarely (1–4%) | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Not recorded | In 1 condition |
| BLTP1bridge-like lipid transfer protein family member 1 | Not recorded | In 1 condition |
| BMPERBMP binding endothelial regulator | Not recorded | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Not recorded | In 1 condition |
| IGF1Rinsulin like growth factor 1 receptor | Not recorded | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Not recorded | In 1 condition |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Not recorded | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Not recorded | In 1 condition |
| SLC35A1solute carrier family 35 member A1 | Not recorded | In 1 condition |
| TAPT1transmembrane anterior posterior transformation 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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