Trait
Short collarbone
Clinical name: Short clavicles
Reduced length of the clavicles.
Summary
- Also called
- Clavicular hypoplasia, Hypoplastic clavicles, Underdeveloped clavicles
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test34 genes linked to Short collarbone
Changes in these genes cause rare conditions in which Short 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 |
|---|---|---|
| FBXL3F-box and leucine rich repeat protein 3 | Always | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Always | In 2 conditions |
| FLNAfilamin A | Always | In 2 conditions |
| LMNAlamin A/C | Always | In 4 conditions |
| ZMPSTE24zinc metallopeptidase STE24 | Always | In 3 conditions |
| RNU12RNA, U12 small nuclear | Very often (80–99%) | In 1 condition |
| RUNX2RUNX family transcription factor 2 | Very often (80–99%) | In 2 conditions |
| DCHS1dachsous cadherin-related 1 | Often (30–79%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 1 condition |
| LEMD2LEM domain nuclear envelope protein 2 | Often (30–79%) | In 1 condition |
| TBX5T-box transcription factor 5 | Often (30–79%) | In 1 condition |
| TWIST1twist family bHLH transcription factor 1 | Often (30–79%) | In 1 condition |
| XYLT1xylosyltransferase 1 | Often (30–79%) | In 2 conditions |
| CBFBcore-binding factor subunit beta | Sometimes (5–29%) | In 1 condition |
| CDC42BPBCDC42 binding protein kinase beta | Sometimes (5–29%) | In 1 condition |
| CHD4chromodomain helicase DNA binding protein 4 | Sometimes (5–29%) | In 1 condition |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Sometimes (5–29%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| SCARF2scavenger receptor class F member 2 | Sometimes (5–29%) | In 1 condition |
| SRCAPSnf2 related CREBBP activator protein | Sometimes (5–29%) | In 2 conditions |
| ALX4ALX homeobox 4 | Rarely (1–4%) | In 1 condition |
| MSX2msh homeobox 2 | Rarely (1–4%) | In 2 conditions |
| ATP7AATPase copper transporting alpha | Not recorded | In 1 condition |
| B4GALT7beta-1,4-galactosyltransferase 7 | Not recorded | In 1 condition |
| BCORBCL6 corepressor | Not recorded | In 1 condition |
| BGNbiglycan | Not recorded | In 1 condition |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Not recorded | In 1 condition |
| FAT4FAT atypical cadherin 4 | Not recorded | In 1 condition |
| HOXD13homeobox D13 | Not recorded | In 1 condition |
| IDUAalpha-L-iduronidase | Not recorded | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Not recorded | In 1 condition |
| RSPO2R-spondin 2 | Not recorded | In 1 condition |
| TBX3T-box transcription factor 3 | Not recorded | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | 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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