Trait
Short calf bone
Clinical name: Fibular hypoplasia
Underdevelopment of the fibula.
Summary
- Also called
- Hypoplastic fibula, Short fibula, Short fibulae
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test23 genes linked to Short calf bone
Changes in these genes cause rare conditions in which Short calf bone 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 |
|---|---|---|
| GDF5growth differentiation factor 5 | Always | In 4 conditions |
| IFT140intraflagellar transport 140 | Always | In 1 condition |
| INTUinturned planar cell polarity protein | Always | In 1 condition |
| EIF4A3eukaryotic translation initiation factor 4A3 | Very often (80–99%) | In 2 conditions |
| INPPL1inositol polyphosphate phosphatase like 1 | Very often (80–99%) | In 1 condition |
| SLC35D1solute carrier family 35 member D1 | Very often (80–99%) | In 1 condition |
| SOX9SRY-box transcription factor 9 | Very often (80–99%) | In 2 conditions |
| AFF3ALF transcription elongation factor 3 | Often (30–79%) | In 1 condition |
| BMPR1Bbone morphogenetic protein receptor type 1B | Often (30–79%) | In 1 condition |
| CEP120centrosomal protein 120 | Often (30–79%) | In 1 condition |
| FZD2frizzled class receptor 2 | Often (30–79%) | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Often (30–79%) | In 2 conditions |
| SF3B4splicing factor 3b subunit 4 | Often (30–79%) | In 1 condition |
| SMOC1SPARC related modular calcium binding 1 | Often (30–79%) | In 2 conditions |
| AFF4ALF transcription elongation factor 4 | Sometimes (5–29%) | In 1 condition |
| BHLHA9basic helix-loop-helix family member a9 | Sometimes (5–29%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Sometimes (5–29%) | In 1 condition |
| METMET proto-oncogene, receptor tyrosine kinase | Sometimes (5–29%) | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Not recorded | In 1 condition |
| COL11A1collagen type XI alpha 1 chain | Not recorded | In 1 condition |
| GPC6glypican 6 | Not recorded | In 1 condition |
| IFT122intraflagellar transport 122 | Not recorded | In 1 condition |
| SHOXSHOX homeobox | 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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