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Trait
Shortened long bone of hand
Clinical name: Short metacarpal
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Summary
- Also called
- Brachymetacarpalia, Hypoplastic metacarpal, Metacarpal hypoplasia, Short metacarpals, Shortened long bones of hand, Shortened metacarpals, Shortening of metacarpals
Shortened long bone of handHP:0010049
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Read the genes linked to Shortened long bone of hand, and the rest of your genome, with one test.
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Get my Genome Test94 genes linked to Shortened long bone of hand
Changes in these genes cause rare conditions in which Shortened long bone of hand 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 |
|---|---|---|
| B3GALT6beta-1,3-galactosyltransferase 6 | Always | In 2 conditions |
| CLDN16claudin 16 | Always | In 1 condition |
| COG4component of oligomeric golgi complex 4 | Always | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Always | In 2 conditions |
| DNA2DNA replication helicase/nuclease 2 | Always | In 1 condition |
| DYMdymeclin | Always | In 2 conditions |
| ERI1exoribonuclease 1 | Always | In 1 condition |
| FBN1fibrillin 1 | Always | In 3 conditions |
| GNASGNAS complex locus | Always | In 6 conditions |
| IFT52intraflagellar transport 52 | Always | In 1 condition |
| INPPL1inositol polyphosphate phosphatase like 1 | Always | In 1 condition |
| LBRlamin B receptor | Always | In 1 condition |
| MATN3matrilin 3 | Always | In 1 condition |
| P3H1prolyl 3-hydroxylase 1 | Always | In 1 condition |
| PDE4Dphosphodiesterase 4D | Always | In 3 conditions |
| PPOXprotoporphyrinogen oxidase | Always | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Always | In 2 conditions |
| PRKG2protein kinase cGMP-dependent 2 | Always | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Always | In 1 condition |
| RAB33BRAB33B, member RAS oncogene family | Always | In 1 condition |
| RIPK4receptor interacting serine/threonine kinase 4 | Always | In 1 condition |
| RMP64ribonuclease MRP subunit p64 | Always | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Always | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Always | In 2 conditions |
| GPX4glutathione peroxidase 4 | Very often (80–99%) | In 2 conditions |
| HHAThedgehog acyltransferase | Very often (80–99%) | In 2 conditions |
| HOXD13homeobox D13 | Very often (80–99%) | In 2 conditions |
| LONP1lon peptidase 1, mitochondrial | Very often (80–99%) | In 2 conditions |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Very often (80–99%) | In 2 conditions |
| PDE3Aphosphodiesterase 3A | Very often (80–99%) | In 2 conditions |
| PTHLHparathyroid hormone like hormone | Very often (80–99%) | In 2 conditions |
| TRPS1transcriptional repressor GATA binding 1 | Very often (80–99%) | In 3 conditions |
| ARID2AT-rich interaction domain 2 | Often (30–79%) | In 1 condition |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Often (30–79%) | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Often (30–79%) | In 2 conditions |
| COL9A1collagen type IX alpha 1 chain | Often (30–79%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Often (30–79%) | In 1 condition |
| FLNAfilamin A | Often (30–79%) | In 2 conditions |
| GDF5growth differentiation factor 5 | Often (30–79%) | In 2 conditions |
| HDAC4histone deacetylase 4 | Often (30–79%) | In 2 conditions |
Show 54 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Often (30–79%) | In 2 conditions |
| NHSNHS actin remodeling regulator | Often (30–79%) | In 1 condition |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Often (30–79%) | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Often (30–79%) | In 1 condition |
| PHYHphytanoyl-CoA 2-hydroxylase | Often (30–79%) | In 1 condition |
| PRMT7protein arginine methyltransferase 7 | Often (30–79%) | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Often (30–79%) | In 1 condition |
| RPS6KA3ribosomal protein S6 kinase A3 | Often (30–79%) | In 2 conditions |
| RSPRY1ring finger and SPRY domain containing 1 | Often (30–79%) | In 2 conditions |
| SLC26A2solute carrier family 26 member 2 | Often (30–79%) | In 3 conditions |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Often (30–79%) | In 1 condition |
| ASXL2ASXL transcriptional regulator 2 | Sometimes (5–29%) | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| CWC27CWC27 spliceosome associated cyclophilin | Sometimes (5–29%) | In 2 conditions |
| DONSONDNA replication fork stabilization factor DONSON | Sometimes (5–29%) | In 1 condition |
| EXT1exostosin glycosyltransferase 1 | Sometimes (5–29%) | In 2 conditions |
| EXT2exostosin glycosyltransferase 2 | Sometimes (5–29%) | In 2 conditions |
| GNAS-AS1GNAS antisense RNA 1 | Sometimes (5–29%) | In 1 condition |
| LTBP3latent transforming growth factor beta binding protein 3 | Sometimes (5–29%) | In 1 condition |
| MYSM1Myb like, SWIRM and MPN domains 1 | Sometimes (5–29%) | In 1 condition |
| PORcytochrome p450 oxidoreductase | Sometimes (5–29%) | In 1 condition |
| RECQL4RecQ like helicase 4 | Sometimes (5–29%) | In 1 condition |
| SRCAPSnf2 related CREBBP activator protein | Sometimes (5–29%) | In 1 condition |
| STX16syntaxin 16 | Sometimes (5–29%) | In 1 condition |
| TGDSTDP-glucose 4,6-dehydratase | Sometimes (5–29%) | In 1 condition |
| TWIST2twist family bHLH transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| ANAPC1anaphase promoting complex subunit 1 | Rarely (1–4%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Not recorded | In 1 condition |
| BGNbiglycan | Not recorded | In 1 condition |
| CCN2cellular communication network factor 2 | Not recorded | In 1 condition |
| CD96CD96 molecule | Not recorded | In 1 condition |
| CHSY1chondroitin sulfate synthase 1 | Not recorded | In 1 condition |
| COL9A3collagen type IX alpha 3 chain | Not recorded | In 1 condition |
| COMPcartilage oligomeric matrix protein | Not recorded | In 2 conditions |
| DDR2discoidin domain receptor tyrosine kinase 2 | Not recorded | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Not recorded | In 1 condition |
| EIF4A3eukaryotic translation initiation factor 4A3 | Not recorded | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Not recorded | In 1 condition |
| FLNBfilamin B | Not recorded | In 3 conditions |
| IFT80intraflagellar transport 80 | Not recorded | In 1 condition |
| IHHIndian hedgehog signaling molecule | Not recorded | In 2 conditions |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Not recorded | In 1 condition |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Not recorded | In 1 condition |
| NPR2natriuretic peptide receptor 2 | Not recorded | In 1 condition |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Not recorded | In 1 condition |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Not recorded | In 1 condition |
| POC1APOC1 centriolar protein A | Not recorded | In 1 condition |
| PORCNporcupine O-acyltransferase | Not recorded | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Not recorded | In 1 condition |
| SIL1SIL1 nucleotide exchange factor | Not recorded | In 1 condition |
| SLC39A13solute carrier family 39 member 13 | Not recorded | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Not recorded | In 1 condition |
| VPS13Bvacuolar protein sorting 13 homolog B | Not recorded | In 1 condition |
| XYLT1xylosyltransferase 1 | 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.
Narrower traits
- Shortened 1st long bone of hand31 genes
- Shortened 4th long bone of hand20 genes
- Shortened 5th long bone of hand15 genes
- Shortened 3rd long bone of hand4 genes
- Shortened 2nd long bone of hand3 genes
- Short long bone of hand with rounded innermost ends1 gene
- Short, cube shaped long bone of hand1 gene
- Shortening of all metacarpals1 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.
Who We HelpOur ScienceProductsOutcomes
Log InAskGet Startedfrom $449
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks