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Trait

Absent fingers

Clinical name: Finger aplasia

A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).

HPO HP:0009380

Summary

Also called
Hand has less than 5 fingers, Aplasia of the fingers, Hand oligodactyly
Body system
Abnormality of limbsAbnormality of the musculoskeletal system

17 genes linked to Absent fingers

Changes in these genes cause rare conditions in which Absent fingers 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.

GeneHow often it is seenConditions
ERI1exoribonuclease 1AlwaysIn 1 condition
RPL26ribosomal protein L26AlwaysIn 1 condition
RECQL4RecQ like helicase 4Very often (80–99%)In 1 condition
SF3B4splicing factor 3b subunit 4Very often (80–99%)In 1 condition
WNT7AWnt family member 7AVery often (80–99%)In 3 conditions
DLX5distal-less homeobox 5Often (30–79%)In 1 condition
SMOC1SPARC related modular calcium binding 1Often (30–79%)In 2 conditions
COL25A1collagen type XXV alpha 1 chainSometimes (5–29%)In 1 condition
KIF21Akinesin family member 21ASometimes (5–29%)In 1 condition
PHOX2Apaired like homeobox 2ASometimes (5–29%)In 1 condition
TUBA1Atubulin alpha 1aSometimes (5–29%)In 1 condition
TUBB2Btubulin beta 2B class IIbSometimes (5–29%)In 1 condition
TUBB3tubulin beta 3 class IIISometimes (5–29%)In 1 condition
ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2Not recordedIn 1 condition
NIPBLNIPBL cohesin loading factorNot recordedIn 1 condition
PORCNporcupine O-acyltransferaseNot recordedIn 1 condition
WNT10BWnt family member 10BNot recordedIn 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 fingers

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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