Trait
Abnormal shape of long bones of hand
Clinical name: Abnormal metacarpal morphology
Any abnormal shape or structure of the metacarpal bones.
Summary
- Also called
- Abnormal shape of metacarpal bones
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 Abnormal shape of long bones of hand
Changes in these genes cause rare conditions in which Abnormal shape of long bones 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 |
|---|---|---|
| APCAPC regulator of Wnt signaling pathway | Very often (80–99%) | In 1 condition |
| CLCN7Cl-/H+ antiporter 7 | Very often (80–99%) | In 1 condition |
| LMBR1limb development membrane protein 1 | Very often (80–99%) | In 1 condition |
| LRP4LDL receptor related protein 4 | Very often (80–99%) | In 1 condition |
| PDE4Dphosphodiesterase 4D | Very often (80–99%) | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Very often (80–99%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Very often (80–99%) | In 1 condition |
| SLC25A24solute carrier family 25 member 24 | Very often (80–99%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Very often (80–99%) | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Very often (80–99%) | In 1 condition |
| SMOC1SPARC related modular calcium binding 1 | Very often (80–99%) | In 1 condition |
| ARHGAP31Rho GTPase activating protein 31 | Often (30–79%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Often (30–79%) | In 1 condition |
| DLL4delta like canonical Notch ligand 4 | Often (30–79%) | In 1 condition |
| DOCK6dedicator of cytokinesis 6 | Often (30–79%) | In 1 condition |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Often (30–79%) | In 1 condition |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Often (30–79%) | In 2 conditions |
| FGFR3fibroblast growth factor receptor 3 | Often (30–79%) | In 1 condition |
| FLNAfilamin A | Often (30–79%) | In 2 conditions |
| FLNBfilamin B | Often (30–79%) | In 1 condition |
| GDF5growth differentiation factor 5 | Often (30–79%) | In 1 condition |
| NOGnoggin | Often (30–79%) | In 1 condition |
| NOTCH1notch receptor 1 | Often (30–79%) | In 1 condition |
| PTDSS1phosphatidylserine synthase 1 | Often (30–79%) | In 1 condition |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Often (30–79%) | In 1 condition |
| RECQL4RecQ like helicase 4 | Often (30–79%) | In 1 condition |
| RUNX2RUNX family transcription factor 2 | Often (30–79%) | In 1 condition |
| SH3PXD2BSH3 and PX domains 2B | Often (30–79%) | In 1 condition |
| SIL1SIL1 nucleotide exchange factor | Often (30–79%) | In 1 condition |
| TBX5T-box transcription factor 5 | Often (30–79%) | In 1 condition |
| AKT1AKT serine/threonine kinase 1 | Sometimes (5–29%) | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Sometimes (5–29%) | In 1 condition |
| TBX3T-box transcription factor 3 | Sometimes (5–29%) | In 1 condition |
| SHOXSHOX homeobox | 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
- Wide long bones of hand18 genes
- Abnormality of the knuckle11 genes
- Fused long bones of hand9 genes
- Absent/small long bones of hand7 genes
- Slender long bones of hand4 genes
- Y-shaped long bone of hand4 genes
- Abnormality of the 5th long bone of hand2 genes
- Elongated long bone of hand2 genes
- Extra long bones of hand2 genes
- Metacarpal osteolysis2 genes
- Thin metacarpal cortices2 genes
- Abnormality of end part of long bone of hand1 gene
- Broad shaft of long bone of hand1 gene
- Expanded metacarpals with widened medullary cavities1 gene
- Flattened head of long bone of hand1 gene
- Irregular long bones of hand1 gene
- Metacarpal diaphyseal endosteal sclerosis1 gene
- Metacarpal periosteal thickening1 gene
- Pointed innermost long bone of hand1 gene
- Wide outermost end of long bone1 gene
- Abnormality of the 1st long bone of hand
- Abnormality of the 2nd long bone of hand
- Abnormality of the 3rd long bone of hand
- Abnormality of the 4th long bone of hand
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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