Trait
Short chin
Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
Summary
- Also called
- Decreased height of chin, Short lower third of face, Small chin, Vertical deficiency of chin, Vertical hypoplasia of chin
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Short chin, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test77 genes linked to Short chin
Changes in these genes cause rare conditions in which Short chin 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 |
|---|---|---|
| COA6cytochrome c oxidase assembly factor 6 | Always | In 1 condition |
| COL9A2collagen type IX alpha 2 chain | Always | In 1 condition |
| FBXL4F-box and leucine rich repeat protein 4 | Always | In 1 condition |
| GTPBP2GTP binding protein 2 | Always | In 1 condition |
| HIVEP2HIVEP zinc finger 2 | Always | In 1 condition |
| ITCHitchy E3 ubiquitin protein ligase | Always | In 2 conditions |
| LMNAlamin A/C | Always | In 2 conditions |
| MAN2B2mannosidase alpha class 2B member 2 | Always | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Always | In 1 condition |
| PAPPA2pappalysin 2 | Always | In 1 condition |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Always | In 1 condition |
| RPL17ribosomal protein L17 | Always | In 1 condition |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Always | In 1 condition |
| TAF4TATA-box binding protein associated factor 4 | Always | In 1 condition |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Very often (80–99%) | In 1 condition |
| H19H19 imprinted maternally expressed transcript | Very often (80–99%) | In 1 condition |
| IGF2insulin like growth factor 2 | Very often (80–99%) | In 1 condition |
| PTF1Apancreas associated transcription factor 1a | Very often (80–99%) | In 2 conditions |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Often (30–79%) | In 1 condition |
| ASXL3ASXL transcriptional regulator 3 | Often (30–79%) | In 1 condition |
| CDK10cyclin dependent kinase 10 | Often (30–79%) | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Often (30–79%) | In 1 condition |
| CYP26C1cytochrome P450 family 26 subfamily C member 1 | Often (30–79%) | In 1 condition |
| DSTdystonin | Often (30–79%) | In 2 conditions |
| EBF3EBF transcription factor 3 | Often (30–79%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Often (30–79%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Often (30–79%) | In 1 condition |
| MEF2Cmyocyte enhancer factor 2C | Often (30–79%) | In 1 condition |
| MYOD1myogenic differentiation 1 | Often (30–79%) | In 1 condition |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Often (30–79%) | In 1 condition |
| PGBD5piggyBac transposable element derived 5 | Often (30–79%) | In 1 condition |
| RNF13ring finger protein 13 | Often (30–79%) | In 2 conditions |
| SLC26A2solute carrier family 26 member 2 | Often (30–79%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Often (30–79%) | In 1 condition |
| SOX11SRY-box transcription factor 11 | Often (30–79%) | In 1 condition |
| VAC14VAC14 component of PIKFYVE complex | Often (30–79%) | In 1 condition |
| ADNPactivity dependent neuroprotector homeobox | Sometimes (5–29%) | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Sometimes (5–29%) | In 1 condition |
Show 37 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Sometimes (5–29%) | In 1 condition |
| BMPR1Abone morphogenetic protein receptor type 1A | Sometimes (5–29%) | In 1 condition |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Sometimes (5–29%) | In 1 condition |
| DDR2discoidin domain receptor tyrosine kinase 2 | Sometimes (5–29%) | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Sometimes (5–29%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Sometimes (5–29%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sometimes (5–29%) | In 3 conditions |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sometimes (5–29%) | In 3 conditions |
| FBXO31F-box protein 31 | Sometimes (5–29%) | In 1 condition |
| GRB10growth factor receptor bound protein 10 | Sometimes (5–29%) | In 1 condition |
| MAN1B1mannosidase alpha class 1B member 1 | Sometimes (5–29%) | In 1 condition |
| MED12mediator complex subunit 12 | Sometimes (5–29%) | In 1 condition |
| NRCAMneuronal cell adhesion molecule | Sometimes (5–29%) | In 1 condition |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Sometimes (5–29%) | In 1 condition |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Sometimes (5–29%) | In 1 condition |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| PTENphosphatase and tensin homolog | Sometimes (5–29%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Sometimes (5–29%) | In 1 condition |
| SETSET nuclear proto-oncogene | Sometimes (5–29%) | In 1 condition |
| SLF2SMC5/6 complex localization factor 2 | Sometimes (5–29%) | In 1 condition |
| TRIOtrio Rho guanine nucleotide exchange factor | Sometimes (5–29%) | In 2 conditions |
| ZMPSTE24zinc metallopeptidase STE24 | Sometimes (5–29%) | In 1 condition |
| ZNF292zinc finger protein 292 | Sometimes (5–29%) | In 1 condition |
| CTCFCCCTC-binding factor | Rarely (1–4%) | In 1 condition |
| MTORmechanistic target of rapamycin kinase | Rarely (1–4%) | In 2 conditions |
| RNU4-2RNA, U4 small nuclear 2 | Rarely (1–4%) | In 1 condition |
| ARID1BAT-rich interaction domain 1B | Not recorded | In 1 condition |
| EDAectodysplasin A | Not recorded | In 1 condition |
| FLNAfilamin A | Not recorded | In 1 condition |
| MBD5methyl-CpG binding domain protein 5 | Not recorded | In 1 condition |
| NFIAnuclear factor I A | Not recorded | In 1 condition |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Not recorded | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| RECQL4RecQ like helicase 4 | Not recorded | In 1 condition |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Not recorded | In 1 condition |
| XRCC4X-ray repair cross complementing 4 | Not recorded | In 1 condition |
| ZBTB24zinc finger and BTB domain containing 24 | 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.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks