Trait

Absent/small toenails

Clinical name: Aplastic/hypoplastic toenail

Absence or underdevelopment of the toenail.

HPO HP:0010624

Also called: Absent/underdeveloped toenails, Aplastic/hypoplastic toenails, Hypoplastic-absent toenails
Body system: Abnormality of the integument

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27 genes linked to Absent/small toenails

Changes in these genes cause rare conditions in which Absent/small toenails 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
SHOXSHOX homeobox	Very often (80–99%)	In 1 condition
ACDACD shelterin complex subunit and telomerase recruitment factor	Often (30–79%)	In 1 condition
CKAP2Lcytoskeleton associated protein 2L	Often (30–79%)	In 1 condition
CTC1CST telomere replication complex component 1	Often (30–79%)	In 1 condition
DKC1dyskerin pseudouridine synthase 1	Often (30–79%)	In 1 condition
GPC4glypican 4	Often (30–79%)	In 1 condition
KCNH1potassium voltage-gated channel subfamily H member 1	Often (30–79%)	In 1 condition
NHP2NHP2 ribonucleoprotein	Often (30–79%)	In 1 condition
NOP10NOP10 ribonucleoprotein	Often (30–79%)	In 1 condition
NPM1nucleophosmin 1	Often (30–79%)	In 1 condition
PARNpoly(A)-specific ribonuclease	Often (30–79%)	In 1 condition
RTEL1regulator of telomere elongation helicase 1	Often (30–79%)	In 1 condition
SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	Often (30–79%)	In 1 condition
TERCtelomerase RNA component	Often (30–79%)	In 1 condition
TERTtelomerase reverse transcriptase	Often (30–79%)	In 1 condition
TINF2TERF1 interacting nuclear factor 2	Often (30–79%)	In 1 condition
TYMSthymidylate synthetase	Often (30–79%)	In 1 condition
USB1U6 snRNA biogenesis phosphodiesterase 1	Often (30–79%)	In 1 condition
WRAP53WD repeat containing antisense to TP53	Often (30–79%)	In 1 condition
ARHGAP31Rho GTPase activating protein 31	Sometimes (5–29%)	In 1 condition
DLL4delta like canonical Notch ligand 4	Sometimes (5–29%)	In 1 condition
DOCK6dedicator of cytokinesis 6	Sometimes (5–29%)	In 1 condition
EOGTEGF domain specific O-linked N-acetylglucosamine transferase	Sometimes (5–29%)	In 1 condition
NOTCH1notch receptor 1	Sometimes (5–29%)	In 1 condition
RBPJrecombination signal binding protein for immunoglobulin kappa J region	Sometimes (5–29%)	In 1 condition
GDF5growth differentiation factor 5	Not recorded	In 1 condition
NOGnoggin	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

Abnormality of the toenail Absent/small nails

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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