Trait
Disproportionately short upper portion of limb
Clinical name: Rhizomelia
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Summary
- Also called
- Rhizomelic limb shortening, Rhizomelic short limbs, Rhizomelic short stature, Rhizomelic shortening, Short stature, rhizomelic, Symmetrical rhizomelic limb shortening
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test66 genes linked to Disproportionately short upper portion of limb
Changes in these genes cause rare conditions in which Disproportionately short upper portion of limb 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 |
|---|---|---|
| ACANaggrecan | Always | In 2 conditions |
| CFAP410cilia and flagella associated protein 410 | Always | In 1 condition |
| CILK1ciliogenesis associated kinase 1 | Always | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Always | In 2 conditions |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Always | In 1 condition |
| CRTAPcartilage associated protein | Always | In 1 condition |
| DYMdymeclin | Always | In 2 conditions |
| FGFR3fibroblast growth factor receptor 3 | Always | In 3 conditions |
| GNPATglyceronephosphate O-acyltransferase | Always | In 1 condition |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Always | In 1 condition |
| GSCgoosecoid homeobox | Always | In 1 condition |
| IFT122intraflagellar transport 122 | Always | In 2 conditions |
| IFT140intraflagellar transport 140 | Always | In 2 conditions |
| IFT43intraflagellar transport 43 | Always | In 2 conditions |
| LBRlamin B receptor | Always | In 3 conditions |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Always | In 1 condition |
| PKDCCprotein kinase domain containing, cytoplasmic | Always | In 1 condition |
| POC1APOC1 centriolar protein A | Always | In 1 condition |
| PRKG2protein kinase cGMP-dependent 2 | Always | In 2 conditions |
| PTBP1polypyrimidine tract binding protein 1 | Always | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Always | In 2 conditions |
| SERPINH1serpin family H member 1 | Always | In 1 condition |
| SIK3SIK family kinase 3 | Always | In 1 condition |
| TBC1D32TBC1 domain family member 32 | Always | In 1 condition |
| WDR19WD repeat domain 19 | Always | In 2 conditions |
| WDR35WD repeat domain 35 | Always | In 2 conditions |
| CHST3carbohydrate sulfotransferase 3 | Very often (80–99%) | In 3 conditions |
| COL11A1collagen type XI alpha 1 chain | Very often (80–99%) | In 2 conditions |
| FZD2frizzled class receptor 2 | Very often (80–99%) | In 1 condition |
| GPC6glypican 6 | Very often (80–99%) | In 2 conditions |
| HDAC6histone deacetylase 6 | Very often (80–99%) | In 2 conditions |
| IFT52intraflagellar transport 52 | Very often (80–99%) | In 1 condition |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Very often (80–99%) | In 2 conditions |
| PTH1Rparathyroid hormone 1 receptor | Very often (80–99%) | In 1 condition |
| ARCN1archain 1 coat protein complex I subunit delta | Often (30–79%) | In 1 condition |
| CEP57centrosomal protein 57 | Often (30–79%) | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Often (30–79%) | In 2 conditions |
| DHCR2424-dehydrocholesterol reductase | Often (30–79%) | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Often (30–79%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 2 conditions |
Show 26 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| FLNBfilamin B | Often (30–79%) | In 3 conditions |
| GDF5growth differentiation factor 5 | Often (30–79%) | In 1 condition |
| KYNUkynureninase | Often (30–79%) | In 1 condition |
| MAB21L2mab-21 like 2 | Often (30–79%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Often (30–79%) | In 2 conditions |
| TONSLtonsoku like, DNA repair protein | Often (30–79%) | In 2 conditions |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Sometimes (5–29%) | In 2 conditions |
| CLPBClpB family mitochondrial disaggregase | Sometimes (5–29%) | In 1 condition |
| CTSKcathepsin K | Sometimes (5–29%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Sometimes (5–29%) | In 1 condition |
| KMT2Alysine methyltransferase 2A | Sometimes (5–29%) | In 1 condition |
| AGPSalkylglycerone phosphate synthase | Not recorded | In 1 condition |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Not recorded | In 1 condition |
| CEP120centrosomal protein 120 | Not recorded | In 1 condition |
| DVL1dishevelled segment polarity protein 1 | Not recorded | In 1 condition |
| GPX4glutathione peroxidase 4 | Not recorded | In 1 condition |
| IFT80intraflagellar transport 80 | Not recorded | In 1 condition |
| INPPL1inositol polyphosphate phosphatase like 1 | Not recorded | In 1 condition |
| MMP13matrix metallopeptidase 13 | Not recorded | In 1 condition |
| MTORmechanistic target of rapamycin kinase | Not recorded | In 1 condition |
| MYSM1Myb like, SWIRM and MPN domains 1 | Not recorded | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Not recorded | In 1 condition |
| TBX15T-box transcription factor 15 | Not recorded | In 1 condition |
| WNT5AWnt family member 5A | 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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