Trait
Split hand
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.
Summary
- Also called
- Split-hand, Ectrodactyly of the hand, Hand ectrodactyly
Reference genomeGRCh38hg38
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Get my Genome Test64 genes linked to Split hand
Changes in these genes cause rare conditions in which Split 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 |
|---|---|---|
| ARSBarylsulfatase B | Always | In 1 condition |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Always | In 2 conditions |
| DLX5distal-less homeobox 5 | Always | In 3 conditions |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Always | In 1 condition |
| PORCNporcupine O-acyltransferase | Always | In 1 condition |
| BHLHA9basic helix-loop-helix family member a9 | Very often (80–99%) | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Very often (80–99%) | In 1 condition |
| TBX5T-box transcription factor 5 | Very often (80–99%) | In 1 condition |
| TP63tumor protein p63 | Very often (80–99%) | In 6 conditions |
| AHSGalpha 2-HS glycoprotein | Often (30–79%) | In 1 condition |
| ARHGAP31Rho GTPase activating protein 31 | Often (30–79%) | In 1 condition |
| CPLX1complexin 1 | Often (30–79%) | In 2 conditions |
| CTBP1C-terminal binding protein 1 | Often (30–79%) | In 2 conditions |
| DLG5discs large MAGUK scaffold protein 5 | 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 |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 1 condition |
| GDAP1ganglioside induced differentiation associated protein 1 | Often (30–79%) | In 2 conditions |
| GLI3GLI family zinc finger 3 | Often (30–79%) | In 1 condition |
| ITGB6integrin subunit beta 6 | Often (30–79%) | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Often (30–79%) | In 2 conditions |
| LSSlanosterol synthase | Often (30–79%) | In 1 condition |
| MCM3APminichromosome maintenance complex component 3 associated protein | Often (30–79%) | In 1 condition |
| NELFAnegative elongation factor complex member A | Often (30–79%) | In 1 condition |
| NOTCH1notch receptor 1 | Often (30–79%) | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Often (30–79%) | In 2 conditions |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Often (30–79%) | In 1 condition |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Often (30–79%) | In 1 condition |
| TCTN3tectonic family member 3 | Often (30–79%) | In 1 condition |
| WNT7AWnt family member 7A | Often (30–79%) | In 1 condition |
| BTRCbeta-transducin repeat containing E3 ubiquitin protein ligase | Sometimes (5–29%) | In 1 condition |
| CDH3cadherin 3 | Sometimes (5–29%) | In 1 condition |
| CTSDcathepsin D | Sometimes (5–29%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Sometimes (5–29%) | In 1 condition |
| DLX6distal-less homeobox 6 | Sometimes (5–29%) | In 1 condition |
| EPS15L1epidermal growth factor receptor pathway substrate 15 like 1 | Sometimes (5–29%) | In 1 condition |
| FBXW4F-box and WD repeat domain containing 4 | Sometimes (5–29%) | In 1 condition |
| FGFRL1fibroblast growth factor receptor like 1 | Sometimes (5–29%) | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Sometimes (5–29%) | In 2 conditions |
Show 24 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| IRF6interferon regulatory factor 6 | Sometimes (5–29%) | In 1 condition |
| LEF1lymphoid enhancer binding factor 1 | Sometimes (5–29%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| NDRG1N-myc downstream regulated 1 | Sometimes (5–29%) | In 1 condition |
| NXNnucleoredoxin | Sometimes (5–29%) | In 1 condition |
| PMP22peripheral myelin protein 22 | Sometimes (5–29%) | In 4 conditions |
| ROR2ROR family WNT receptor 2 | Sometimes (5–29%) | In 1 condition |
| SEM1SEM1 26S proteasome subunit | Sometimes (5–29%) | In 1 condition |
| SVBPsmall vasohibin binding protein | Sometimes (5–29%) | In 1 condition |
| WNT10BWnt family member 10B | Sometimes (5–29%) | In 2 conditions |
| HINT1histidine triad nucleotide binding protein 1 | Rarely (1–4%) | In 1 condition |
| CTDP1CTD phosphatase 1 | Not recorded | In 1 condition |
| EGR2early growth response 2 | Not recorded | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Not recorded | In 1 condition |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Not recorded | In 1 condition |
| IDSiduronate 2-sulfatase | Not recorded | In 1 condition |
| JPH1junctophilin 1 | Not recorded | In 1 condition |
| MED12mediator complex subunit 12 | Not recorded | In 1 condition |
| MMP2matrix metallopeptidase 2 | Not recorded | In 1 condition |
| MPZmyelin protein zero | Not recorded | In 2 conditions |
| NEFLneurofilament light chain | Not recorded | In 1 condition |
| PRXperiaxin | Not recorded | In 1 condition |
| SBF2SET binding factor 2 | Not recorded | In 1 condition |
| SLC52A2solute carrier family 52 member 2 | 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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