Trait
Short long bone of foot
Clinical name: Short metatarsal
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Summary
- Also called
- Hypoplasia of the metatarsal bones, Hypoplastic metatarsals, Short metatarsal bone, Short metatarsals, Shortened metatarsals
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test44 genes linked to Short long bone of foot
Changes in these genes cause rare conditions in which Short long bone of foot 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 |
|---|---|---|
| COG4component of oligomeric golgi complex 4 | Always | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Always | In 3 conditions |
| DYMdymeclin | Always | In 1 condition |
| FBN1fibrillin 1 | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 1 condition |
| IFT52intraflagellar transport 52 | Always | In 1 condition |
| PDE4Dphosphodiesterase 4D | Always | In 3 conditions |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Always | In 2 conditions |
| PRKG2protein kinase cGMP-dependent 2 | Always | In 1 condition |
| PRMT7protein arginine methyltransferase 7 | Always | In 1 condition |
| RAB33BRAB33B, member RAS oncogene family | Always | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Very often (80–99%) | In 1 condition |
| TCF4transcription factor 4 | Very often (80–99%) | In 1 condition |
| TRPS1transcriptional repressor GATA binding 1 | Very often (80–99%) | In 3 conditions |
| ARID2AT-rich interaction domain 2 | Often (30–79%) | In 1 condition |
| BMPR1Bbone morphogenetic protein receptor type 1B | Often (30–79%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 1 condition |
| FLNAfilamin A | Often (30–79%) | In 2 conditions |
| GDF5growth differentiation factor 5 | Often (30–79%) | In 2 conditions |
| GNASGNAS complex locus | Often (30–79%) | In 6 conditions |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Often (30–79%) | In 2 conditions |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Often (30–79%) | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Often (30–79%) | In 1 condition |
| EBF3EBF transcription factor 3 | Sometimes (5–29%) | In 1 condition |
| HOXD13homeobox D13 | Sometimes (5–29%) | In 3 conditions |
| PTHLHparathyroid hormone like hormone | Sometimes (5–29%) | In 2 conditions |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Sometimes (5–29%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Sometimes (5–29%) | In 1 condition |
| SRYsex determining region Y | Sometimes (5–29%) | In 1 condition |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Rarely (1–4%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Not recorded | In 1 condition |
| CANT1calcium activated nucleotidase 1 | Not recorded | In 1 condition |
| CHSY1chondroitin sulfate synthase 1 | Not recorded | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Not recorded | In 1 condition |
| FLNBfilamin B | Not recorded | In 2 conditions |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Not recorded | In 1 condition |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Not recorded | In 1 condition |
| NPR2natriuretic peptide receptor 2 | Not recorded | In 1 condition |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Not recorded | In 1 condition |
| POC1APOC1 centriolar protein A | Not recorded | In 1 condition |
Show 4 more genes
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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