Trait

Short 5th finger

Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.

Also called: Short fifth finger, Short fifth fingers, Short little finger, Short pinkie finger, Short pinky finger, Fifth finger brachydactyly, Hypoplastic phalanges of the little finger, Hypoplastic/small 5th finger, Hypoplastic/small little finger, Short phalanges of the little finger
Body system: Abnormality of limbs Abnormality of the musculoskeletal system

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44 genes linked to Short 5th finger

Changes in these genes cause rare conditions in which Short 5th finger 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
CILK1ciliogenesis associated kinase 1	Always	In 1 condition
COX4I1cytochrome c oxidase subunit 4I1	Always	In 1 condition
HOXA13homeobox A13	Always	In 2 conditions
KDM6Alysine demethylase 6A	Always	In 3 conditions
KMT2Dlysine methyltransferase 2D	Always	In 2 conditions
SF3B4splicing factor 3b subunit 4	Always	In 1 condition
SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	Always	In 2 conditions
EIF4A3eukaryotic translation initiation factor 4A3	Very often (80–99%)	In 2 conditions
ARID1AAT-rich interaction domain 1A	Often (30–79%)	In 1 condition
ARID1BAT-rich interaction domain 1B	Often (30–79%)	In 1 condition
ARID2AT-rich interaction domain 2	Often (30–79%)	In 1 condition
ATP6V1B2ATPase H+ transporting V1 subunit B2	Often (30–79%)	In 1 condition
CDKN1Ccyclin dependent kinase inhibitor 1C	Often (30–79%)	In 1 condition
CNOT2CCR4-NOT transcription complex subunit 2	Often (30–79%)	In 1 condition
DPF2double PHD fingers 2	Often (30–79%)	In 1 condition
FGD1FYVE, RhoGEF and PH domain containing 1	Often (30–79%)	In 1 condition
GNASGNAS complex locus	Often (30–79%)	In 1 condition
HMGA2high mobility group AT-hook 2	Often (30–79%)	In 1 condition
IGF2insulin like growth factor 2	Often (30–79%)	In 1 condition
KMT2Alysine methyltransferase 2A	Often (30–79%)	In 1 condition
PKDCCprotein kinase domain containing, cytoplasmic	Often (30–79%)	In 1 condition
PLAG1PLAG1 zinc finger	Often (30–79%)	In 1 condition
RPL17ribosomal protein L17	Often (30–79%)	In 1 condition
SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1	Often (30–79%)	In 1 condition
SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2	Often (30–79%)	In 1 condition
SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1	Often (30–79%)	In 1 condition
SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1	Often (30–79%)	In 1 condition
SMC3structural maintenance of chromosomes 3	Often (30–79%)	In 1 condition
SOX11SRY-box transcription factor 11	Often (30–79%)	In 1 condition
SOX4SRY-box transcription factor 4	Often (30–79%)	In 1 condition
TBC1D24TBC1 domain family member 24	Often (30–79%)	In 2 conditions
TBX3T-box transcription factor 3	Often (30–79%)	In 1 condition
DOT1LDOT1 like histone lysine methyltransferase	Sometimes (5–29%)	In 1 condition
MAU2MAU2 sister chromatid cohesion factor	Sometimes (5–29%)	In 1 condition
PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	Sometimes (5–29%)	In 1 condition
PUF60poly(U) binding splicing factor 60	Sometimes (5–29%)	In 3 conditions
RAC1Rac family small GTPase 1	Sometimes (5–29%)	In 1 condition
ZMYM2zinc finger MYM-type containing 2	Sometimes (5–29%)	In 1 condition
ALDH3A2aldehyde dehydrogenase 3 family member A2	Rarely (1–4%)	In 1 condition
CUL7cullin 7	Not recorded	In 1 condition

Show 4 more genes

Gene	How often it is seen	Conditions
GJA1gap junction protein alpha 1	Not recorded	In 1 condition
MASP1MBL associated serine protease 1	Not recorded	In 1 condition
MEIS2Meis homeobox 2	Not recorded	In 1 condition
OBSL1obscurin like cytoskeletal adaptor 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

Broader traits

Absent/small little finger Short finger

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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