Trait
Short humerus
Underdevelopment of the humerus.
Summary
- Also called
- Short long bone of upper arm, Short upper arms, Humeral hypoplasia, Humeral shortening, Hypoplastic humerus, Short humeri
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test36 genes linked to Short humerus
Changes in these genes cause rare conditions in which Short humerus 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 |
|---|---|---|
| FZD2frizzled class receptor 2 | Always | In 2 conditions |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Always | In 1 condition |
| TNFRSF11BTNF receptor superfamily member 11b | Always | In 1 condition |
| LMBR1limb development membrane protein 1 | Very often (80–99%) | In 2 conditions |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Often (30–79%) | In 1 condition |
| FAAP100FA core complex associated protein 100 | Often (30–79%) | In 1 condition |
| GSCgoosecoid homeobox | Often (30–79%) | In 1 condition |
| MTHFSmethenyltetrahydrofolate synthetase | Often (30–79%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Often (30–79%) | In 1 condition |
| POLR3ARNA polymerase III subunit A | Often (30–79%) | In 2 conditions |
| TBX5T-box transcription factor 5 | Often (30–79%) | In 1 condition |
| KIAA0753KIAA0753 | Sometimes (5–29%) | In 1 condition |
| MYSM1Myb like, SWIRM and MPN domains 1 | Sometimes (5–29%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Sometimes (5–29%) | In 2 conditions |
| TGDSTDP-glucose 4,6-dehydratase | Sometimes (5–29%) | In 1 condition |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Rarely (1–4%) | In 1 condition |
| AGPSalkylglycerone phosphate synthase | Not recorded | In 1 condition |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Not recorded | In 1 condition |
| ATP7AATPase copper transporting alpha | Not recorded | In 1 condition |
| CCN2cellular communication network factor 2 | Not recorded | In 1 condition |
| FLNAfilamin A | Not recorded | In 1 condition |
| FLNBfilamin B | Not recorded | In 1 condition |
| GDF5growth differentiation factor 5 | Not recorded | In 1 condition |
| GNPATglyceronephosphate O-acyltransferase | Not recorded | In 1 condition |
| GPC6glypican 6 | Not recorded | In 1 condition |
| IFT122intraflagellar transport 122 | Not recorded | In 1 condition |
| IHHIndian hedgehog signaling molecule | Not recorded | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Not recorded | In 1 condition |
| NOGnoggin | Not recorded | In 1 condition |
| RECQL4RecQ like helicase 4 | Not recorded | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Not recorded | In 1 condition |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Not recorded | In 1 condition |
| TBX3T-box transcription factor 3 | Not recorded | In 1 condition |
| ZIC3Zic family zinc finger 3 | 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.
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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