Trait
Short big toe
Clinical name: Short hallux
Underdevelopment (hypoplasia) of the big toe.
Summary
- Also called
- Hypoplastic big toes, Hypoplastic hallux, Short halluces, Small hallux
Reference genomeGRCh38hg38
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Get my Genome Test34 genes linked to Short big toe
Changes in these genes cause rare conditions in which Short big toe 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 |
|---|---|---|
| EIF4A3eukaryotic translation initiation factor 4A3 | Always | In 2 conditions |
| HOXA13homeobox A13 | Always | In 2 conditions |
| SF3B4splicing factor 3b subunit 4 | Always | In 1 condition |
| SLC13A1solute carrier family 13 member 1 | Always | In 1 condition |
| TOP2BDNA topoisomerase II beta | Always | In 1 condition |
| ACVR1activin A receptor type 1 | Very often (80–99%) | In 2 conditions |
| BHLHA9basic helix-loop-helix family member a9 | Very often (80–99%) | In 1 condition |
| BMPR1Bbone morphogenetic protein receptor type 1B | Very often (80–99%) | In 2 conditions |
| FGFR1fibroblast growth factor receptor 1 | Very often (80–99%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Very often (80–99%) | In 3 conditions |
| FLNAfilamin A | Very often (80–99%) | In 4 conditions |
| GDF5growth differentiation factor 5 | Very often (80–99%) | In 2 conditions |
| GPC4glypican 4 | Very often (80–99%) | In 1 condition |
| IHHIndian hedgehog signaling molecule | Very often (80–99%) | In 1 condition |
| ABCC9ATP binding cassette subfamily C member 9 | Often (30–79%) | In 2 conditions |
| CHST11carbohydrate sulfotransferase 11 | Often (30–79%) | In 1 condition |
| CPLX1complexin 1 | Often (30–79%) | In 2 conditions |
| CTBP1C-terminal binding protein 1 | Often (30–79%) | In 2 conditions |
| KAT6Alysine acetyltransferase 6A | Often (30–79%) | In 1 condition |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Often (30–79%) | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Often (30–79%) | In 2 conditions |
| NELFAnegative elongation factor complex member A | Often (30–79%) | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Often (30–79%) | In 2 conditions |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Often (30–79%) | In 1 condition |
| ROBO1roundabout guidance receptor 1 | Often (30–79%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Often (30–79%) | In 1 condition |
| TPRtranslocated promoter region, nuclear basket protein | Often (30–79%) | In 1 condition |
| CHSY1chondroitin sulfate synthase 1 | Sometimes (5–29%) | In 1 condition |
| FGFRL1fibroblast growth factor receptor like 1 | Sometimes (5–29%) | In 1 condition |
| GJA1gap junction protein alpha 1 | Sometimes (5–29%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Sometimes (5–29%) | In 1 condition |
| BMP2bone morphogenetic protein 2 | Not recorded | In 1 condition |
| MGPmatrix Gla protein | Not recorded | In 1 condition |
| NOGnoggin | 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.
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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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