Trait
Big lower jaw
Clinical name: Mandibular prognathia
Abnormal prominence of the chin related to increased length of the mandible.
Summary
- Also called
- Increased projection of lower jaw, Increased size of lower jaw, Increased size of mandible, Large lower jaw, Prominent chin, Prominent lower jaw, Big mandible, Enlarged mandible, Enlargement of mandible, Hyperplasia of lower jaw, Increased projection of mandible, Large mandible, Lower jaw excess, Lower jaw hyperplasia, Macromandible, Mandible prognathism, Mandibular excess, Mandibular hyperplasia, Mandibular macrognathia, Mandibular prognathism, Prognathia, Prognathism, Prominent jaw, Prominent mandible, Relative mandibular prognathism
Reference genomeGRCh38hg38
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Get my Genome Test226 genes linked to Big lower jaw
Changes in these genes cause rare conditions in which Big lower jaw 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 |
|---|---|---|
| ACANaggrecan | Always | In 3 conditions |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Always | In 1 condition |
| AMOTL1angiomotin like 1 | Always | In 1 condition |
| APC2APC regulator of Wnt signaling pathway 2 | Always | In 1 condition |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Always | In 1 condition |
| ATRXATRX chromatin remodeler | Always | In 1 condition |
| CDH11cadherin 11 | Always | In 2 conditions |
| DDX59DEAD-box helicase 59 | Always | In 1 condition |
| ESAMendothelial cell adhesion molecule | Always | In 1 condition |
| GNB2G protein subunit beta 2 | Always | In 1 condition |
| GPC3glypican 3 | Always | In 2 conditions |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Always | In 2 conditions |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Always | In 1 condition |
| IL6STinterleukin 6 cytokine family signal transducer | Always | In 1 condition |
| MED16mediator complex subunit 16 | Always | In 1 condition |
| MYOD1myogenic differentiation 1 | Always | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Always | In 1 condition |
| PRKG2protein kinase cGMP-dependent 2 | Always | In 1 condition |
| PTDSS1phosphatidylserine synthase 1 | Always | In 2 conditions |
| RNF113Aring finger protein 113A | Always | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| RPL10ribosomal protein L10 | Always | In 3 conditions |
| SLC12A2solute carrier family 12 member 2 | Always | In 1 condition |
| SLC35A2solute carrier family 35 member A2 | Always | In 1 condition |
| SLC6A17solute carrier family 6 member 17 | Always | In 2 conditions |
| SMAD4SMAD family member 4 | Always | In 2 conditions |
| SOSTsclerostin | Always | In 3 conditions |
| TPRKBTP53RK binding protein | Always | In 1 condition |
| UBAP2Lubiquitin associated protein 2 like | Always | In 1 condition |
| AGAaspartylglucosaminidase | Very often (80–99%) | In 1 condition |
| AIPAHR interacting HSP90 co-chaperone | Very often (80–99%) | In 2 conditions |
| GPC4glypican 4 | Very often (80–99%) | In 1 condition |
| GPR101G protein-coupled receptor 101 | Very often (80–99%) | In 1 condition |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Very often (80–99%) | In 1 condition |
| LRP5LDL receptor related protein 5 | Very often (80–99%) | In 2 conditions |
| MEN1menin 1 | Very often (80–99%) | In 1 condition |
| NHSNHS actin remodeling regulator | Very often (80–99%) | In 1 condition |
| PAX3paired box 3 | Very often (80–99%) | In 3 conditions |
| SLC25A24solute carrier family 25 member 24 | Very often (80–99%) | In 2 conditions |
| ACTA1actin alpha 1, skeletal muscle | Often (30–79%) | In 1 condition |
Show 186 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| ADAMTSL1ADAMTS like 1 | Often (30–79%) | In 1 condition |
| ADAMTSL4ADAMTS like 4 | Often (30–79%) | In 1 condition |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Often (30–79%) | In 1 condition |
| ANKHANKH inorganic pyrophosphate transport regulator | Often (30–79%) | In 1 condition |
| ANTXR1ANTXR cell adhesion molecule 1 | Often (30–79%) | In 1 condition |
| APCAPC regulator of Wnt signaling pathway | Often (30–79%) | In 1 condition |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Often (30–79%) | In 1 condition |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Often (30–79%) | In 1 condition |
| CSNK2Bcasein kinase 2 beta | Often (30–79%) | In 1 condition |
| DEAF1DEAF1 transcription factor | Often (30–79%) | In 1 condition |
| DOCK3dedicator of cytokinesis 3 | Often (30–79%) | In 1 condition |
| EHMT1euchromatic histone lysine methyltransferase 1 | Often (30–79%) | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Often (30–79%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Often (30–79%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Often (30–79%) | In 3 conditions |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Often (30–79%) | In 3 conditions |
| EXOSC5exosome component 5 | Often (30–79%) | In 1 condition |
| FBN1fibrillin 1 | Often (30–79%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 2 conditions |
| FGFR2fibroblast growth factor receptor 2 | Often (30–79%) | In 6 conditions |
| FMR1fragile X messenger ribonucleoprotein 1 | Often (30–79%) | In 2 conditions |
| FOXG1forkhead box G1 | Often (30–79%) | In 1 condition |
| FOXP1forkhead box P1 | Often (30–79%) | In 1 condition |
| GJA1gap junction protein alpha 1 | Often (30–79%) | In 2 conditions |
| IL11RAinterleukin 11 receptor subunit alpha | Often (30–79%) | In 1 condition |
| KAT5lysine acetyltransferase 5 | Often (30–79%) | In 1 condition |
| KAT6Alysine acetyltransferase 6A | Often (30–79%) | In 1 condition |
| KPTNkaptin, actin binding protein | Often (30–79%) | In 2 conditions |
| MBD5methyl-CpG binding domain protein 5 | Often (30–79%) | In 1 condition |
| MED25mediator complex subunit 25 | Often (30–79%) | In 1 condition |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Often (30–79%) | In 1 condition |
| NFIXnuclear factor I X | Often (30–79%) | In 1 condition |
| OPHN1oligophrenin 1 | Often (30–79%) | In 2 conditions |
| PCGF2polycomb group ring finger 2 | Often (30–79%) | In 1 condition |
| PDE4Dphosphodiesterase 4D | Often (30–79%) | In 3 conditions |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Often (30–79%) | In 1 condition |
| PMM2phosphomannomutase 2 | Often (30–79%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 1 condition |
| PQBP1polyglutamine binding protein 1 | Often (30–79%) | In 3 conditions |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Often (30–79%) | In 2 conditions |
| PTENphosphatase and tensin homolog | Often (30–79%) | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Often (30–79%) | In 2 conditions |
| RAI1retinoic acid induced 1 | Often (30–79%) | In 2 conditions |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Often (30–79%) | In 1 condition |
| RUNX2RUNX family transcription factor 2 | Often (30–79%) | In 1 condition |
| RUSC2RUN and SH3 domain containing 2 | Often (30–79%) | In 1 condition |
| SFRP4secreted frizzled related protein 4 | Often (30–79%) | In 2 conditions |
| SH3PXD2BSH3 and PX domains 2B | Often (30–79%) | In 1 condition |
| STAG2STAG2 cohesin complex component | Often (30–79%) | In 1 condition |
| STAT3signal transducer and activator of transcription 3 | Often (30–79%) | In 1 condition |
| STEEP1STING1 ER exit protein 1 | Often (30–79%) | In 1 condition |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Often (30–79%) | In 1 condition |
| SVILsupervillin | Often (30–79%) | In 1 condition |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Often (30–79%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Often (30–79%) | In 2 conditions |
| ACBD6acyl-CoA binding domain containing 6 | Sometimes (5–29%) | In 1 condition |
| ACTBactin beta | Sometimes (5–29%) | In 1 condition |
| AFF3ALF transcription elongation factor 3 | Sometimes (5–29%) | In 1 condition |
| ATAD3AATPase family AAA domain containing 3A | Sometimes (5–29%) | In 2 conditions |
| ATP10AATPase phospholipid transporting 10A (putative) | Sometimes (5–29%) | In 1 condition |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Sometimes (5–29%) | In 1 condition |
| CDC42BPBCDC42 binding protein kinase beta | Sometimes (5–29%) | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Sometimes (5–29%) | In 1 condition |
| CLCN3Cl-/H+ antiporter 3 | Sometimes (5–29%) | In 1 condition |
| CLIC2CLIC family member 2 | Sometimes (5–29%) | In 1 condition |
| CNOT3CCR4-NOT transcription complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| CRELD1CRELD disulfide isomerase 1 | Sometimes (5–29%) | In 1 condition |
| CTCFCCCTC-binding factor | Sometimes (5–29%) | In 1 condition |
| DHX30DExH-box helicase 30 | Sometimes (5–29%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| FAM20CFAM20C golgi associated secretory pathway kinase | Sometimes (5–29%) | In 1 condition |
| FBXO11F-box protein 11 | Sometimes (5–29%) | In 1 condition |
| FBXW11F-box and WD repeat domain containing 11 | Sometimes (5–29%) | In 1 condition |
| GORABgolgin, RAB6 interacting | Sometimes (5–29%) | In 2 conditions |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Sometimes (5–29%) | In 1 condition |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Sometimes (5–29%) | In 1 condition |
| H3-3BH3.3 histone B | Sometimes (5–29%) | In 1 condition |
| H4C5H4 clustered histone 5 | Sometimes (5–29%) | In 1 condition |
| HNF1BHNF1 homeobox B | Sometimes (5–29%) | In 1 condition |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Sometimes (5–29%) | In 1 condition |
| INSRinsulin receptor | Sometimes (5–29%) | In 2 conditions |
| KCTD1potassium channel tetramerization domain containing 1 | Sometimes (5–29%) | In 1 condition |
| KDM5Clysine demethylase 5C | Sometimes (5–29%) | In 1 condition |
| KDM6Blysine demethylase 6B | Sometimes (5–29%) | In 1 condition |
| LTBP3latent transforming growth factor beta binding protein 3 | Sometimes (5–29%) | In 1 condition |
| MAFMAF bZIP transcription factor | Sometimes (5–29%) | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Sometimes (5–29%) | In 2 conditions |
| MED13Lmediator complex subunit 13L | Sometimes (5–29%) | In 1 condition |
| MEG3maternally expressed 3 | Sometimes (5–29%) | In 1 condition |
| MESDmesoderm development LRP chaperone | Sometimes (5–29%) | In 1 condition |
| MYH7myosin heavy chain 7 | Sometimes (5–29%) | In 1 condition |
| MYH8myosin heavy chain 8 | Sometimes (5–29%) | In 1 condition |
| NDST1N-deacetylase and N-sulfotransferase 1 | Sometimes (5–29%) | In 1 condition |
| NEXMIFneurite extension and migration factor | Sometimes (5–29%) | In 1 condition |
| NSRP1nuclear speckle splicing regulatory protein 1 | Sometimes (5–29%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Sometimes (5–29%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Sometimes (5–29%) | In 1 condition |
| PCDHGC4protocadherin gamma subfamily C, 4 | Sometimes (5–29%) | In 1 condition |
| PGAP2post-GPI attachment to proteins 2 | Sometimes (5–29%) | In 1 condition |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Sometimes (5–29%) | In 1 condition |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Sometimes (5–29%) | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sometimes (5–29%) | In 1 condition |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Sometimes (5–29%) | In 1 condition |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Sometimes (5–29%) | In 2 conditions |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Sometimes (5–29%) | In 1 condition |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Sometimes (5–29%) | In 1 condition |
| PLAAT3phospholipase A and acyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Sometimes (5–29%) | In 1 condition |
| PTCH1patched 1 | Sometimes (5–29%) | In 2 conditions |
| PTCH2patched 2 | Sometimes (5–29%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Sometimes (5–29%) | In 1 condition |
| PYCR1pyrroline-5-carboxylate reductase 1 | Sometimes (5–29%) | In 1 condition |
| RFX7regulatory factor X7 | Sometimes (5–29%) | In 1 condition |
| RNF125ring finger protein 125 | Sometimes (5–29%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Sometimes (5–29%) | In 1 condition |
| SELENONselenoprotein N | Sometimes (5–29%) | In 1 condition |
| SLC10A7solute carrier family 10 member 7 | Sometimes (5–29%) | In 1 condition |
| SLC35C1solute carrier family 35 member C1 | Sometimes (5–29%) | In 1 condition |
| SLC4A10solute carrier family 4 member 10 | Sometimes (5–29%) | In 1 condition |
| SLC6A1solute carrier family 6 member 1 | Sometimes (5–29%) | In 1 condition |
| SLC6A11solute carrier family 6 member 11 | Sometimes (5–29%) | In 1 condition |
| SMPD4sphingomyelin phosphodiesterase 4 | Sometimes (5–29%) | In 1 condition |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Sometimes (5–29%) | In 1 condition |
| SUFUSUFU negative regulator of hedgehog signaling | Sometimes (5–29%) | In 1 condition |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Sometimes (5–29%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Sometimes (5–29%) | In 2 conditions |
| TONSLtonsoku like, DNA repair protein | Sometimes (5–29%) | In 2 conditions |
| TTNtitin | Sometimes (5–29%) | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Sometimes (5–29%) | In 5 conditions |
| WDR62WD repeat domain 62 | Sometimes (5–29%) | In 1 condition |
| WDR83OSWD repeat domain 83 opposite strand | Sometimes (5–29%) | In 1 condition |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Sometimes (5–29%) | In 1 condition |
| CNTNAP2contactin associated protein 2 | Rarely (1–4%) | In 1 condition |
| COL13A1collagen type XIII alpha 1 chain | Rarely (1–4%) | In 1 condition |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Rarely (1–4%) | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Rarely (1–4%) | In 1 condition |
| GJA5gap junction protein alpha 5 | Rarely (1–4%) | In 1 condition |
| GJA8gap junction protein alpha 8 | Rarely (1–4%) | In 1 condition |
| H3-3AH3.3 histone A | Rarely (1–4%) | In 1 condition |
| KIF7kinesin family member 7 | Rarely (1–4%) | In 1 condition |
| LAMB2laminin subunit beta 2 | Rarely (1–4%) | In 1 condition |
| SMSspermine synthase | Rarely (1–4%) | In 2 conditions |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Not recorded | In 1 condition |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Not recorded | In 1 condition |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Not recorded | In 1 condition |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Not recorded | In 1 condition |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Not recorded | In 1 condition |
| CLCN4Cl-/H+ antiporter 4 | Not recorded | In 1 condition |
| CUL4Bcullin 4B | Not recorded | In 1 condition |
| CUL7cullin 7 | Not recorded | In 1 condition |
| DYMdymeclin | Not recorded | In 1 condition |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Not recorded | In 1 condition |
| FLCNfolliculin | Not recorded | In 1 condition |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Not recorded | In 1 condition |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Not recorded | In 1 condition |
| GLB1galactosidase beta 1 | Not recorded | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Not recorded | In 1 condition |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Not recorded | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| IDUAalpha-L-iduronidase | Not recorded | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Not recorded | In 1 condition |
| KIF11kinesin family member 11 | Not recorded | In 1 condition |
| LRP4LDL receptor related protein 4 | Not recorded | In 1 condition |
| MAGEL2MAGE family member L2 | Not recorded | In 1 condition |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Not recorded | In 1 condition |
| MUSKmuscle associated receptor tyrosine kinase | Not recorded | In 1 condition |
| MYH3myosin heavy chain 3 | Not recorded | In 1 condition |
| POC1APOC1 centriolar protein A | Not recorded | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Not recorded | In 1 condition |
| RECQL4RecQ like helicase 4 | Not recorded | In 1 condition |
| RPS6KA3ribosomal protein S6 kinase A3 | Not recorded | In 1 condition |
| SETD2SET domain containing 2, histone lysine methyltransferase | Not recorded | In 1 condition |
| SLC6A8solute carrier family 6 member 8 | Not recorded | In 1 condition |
| SLC9A6solute carrier family 9 member A6 | Not recorded | In 1 condition |
| SOX18SRY-box transcription factor 18 | Not recorded | In 1 condition |
| SRCAPSnf2 related CREBBP activator protein | Not recorded | In 1 condition |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Not recorded | In 1 condition |
| TBC1D7TBC1 domain family member 7 | Not recorded | In 1 condition |
| TGFB1transforming growth factor beta 1 | Not recorded | In 1 condition |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Not recorded | In 1 condition |
| TNFSF11TNF superfamily member 11 | Not recorded | In 1 condition |
| TNNI2troponin I2, fast skeletal type | Not recorded | In 1 condition |
| TWIST2twist family bHLH transcription factor 2 | Not recorded | In 1 condition |
| TXNL4Athioredoxin like 4A | 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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