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Trait
Abnormal collarbone
Clinical name: Abnormal clavicle morphology
Any abnormality of the clavicles (collar bones).
Summary
- Also called
- Abnormal clavicles, Abnormality of the clavicle
- Body system
- Abnormality of the musculoskeletal system
Abnormal collarboneHP:0000889
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Read the genes linked to Abnormal collarbone, and the rest of your genome, with one test.
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Get my Genome Test32 genes linked to Abnormal collarbone
Changes in these genes cause rare conditions in which Abnormal collarbone 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 |
|---|---|---|
| LRP5LDL receptor related protein 5 | Very often (80–99%) | In 1 condition |
| RNU12RNA, U12 small nuclear | Very often (80–99%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Very often (80–99%) | In 1 condition |
| SOSTsclerostin | Very often (80–99%) | In 1 condition |
| TBX5T-box transcription factor 5 | Very often (80–99%) | In 1 condition |
| TNFRSF11ATNF receptor superfamily member 11a | Very often (80–99%) | In 1 condition |
| TNFRSF11BTNF receptor superfamily member 11b | Very often (80–99%) | In 1 condition |
| ANTXR1ANTXR cell adhesion molecule 1 | Often (30–79%) | In 1 condition |
| CEP120centrosomal protein 120 | Often (30–79%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Often (30–79%) | In 1 condition |
| DYNC2I1dynein 2 intermediate chain 1 | Often (30–79%) | In 1 condition |
| DYNC2I2dynein 2 intermediate chain 2 | Often (30–79%) | In 1 condition |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Often (30–79%) | In 1 condition |
| EFNB1ephrin B1 | Often (30–79%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Often (30–79%) | In 1 condition |
| IDUAalpha-L-iduronidase | Often (30–79%) | In 1 condition |
| IFT140intraflagellar transport 140 | Often (30–79%) | In 1 condition |
| IFT172intraflagellar transport 172 | Often (30–79%) | In 1 condition |
| IFT80intraflagellar transport 80 | Often (30–79%) | In 1 condition |
| KIAA0753KIAA0753 | Often (30–79%) | In 1 condition |
| TTC21Btetratricopeptide repeat domain 21B | Often (30–79%) | In 1 condition |
| WDR19WD repeat domain 19 | Often (30–79%) | In 1 condition |
| BCORBCL6 corepressor | Sometimes (5–29%) | In 1 condition |
| CTSKcathepsin K | Sometimes (5–29%) | In 1 condition |
| FKBP10FKBP prolyl isomerase 10 | Sometimes (5–29%) | In 1 condition |
| GJA1gap junction protein alpha 1 | Sometimes (5–29%) | In 1 condition |
| GLI3GLI family zinc finger 3 | Sometimes (5–29%) | In 1 condition |
| KIF7kinesin family member 7 | Sometimes (5–29%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sometimes (5–29%) | In 1 condition |
| SETBP1SET binding protein 1 | Sometimes (5–29%) | In 1 condition |
| TBX3T-box transcription factor 3 | Sometimes (5–29%) | 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.
Narrower traits
- Hook-shaped collarbone16 genes
- Long collarbone15 genes
- Broad collarbone11 genes
- Straight collarbone8 genes
- Thin collarbone5 genes
- Absent/small collarbone4 genes
- Progressive clavicular acroosteolysis3 genes
- Clavicular pseudarthrosis2 genes
- Increased bone density in collarbone2 genes
- Medial widening of clavicle1 gene
- Thickened cortex of the clavicle1 gene
- Wavy collarbone1 gene
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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