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Trait

Short shinbone

Clinical name: Short tibia

Underdevelopment (reduced size) of the tibia.

HPO HP:0005736

Summary

Also called
Short skankbone, Hypoplasia of the tibia, Hypoplastic tibia, Short tibiae, Shortening of the shankbone, Shortening of the shinbone, Shortening of the tibia
Body system
Abnormality of limbsAbnormality of the musculoskeletal system

27 genes linked to Short shinbone

Changes in these genes cause rare conditions in which Short shinbone 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
INTUinturned planar cell polarity proteinAlwaysIn 1 condition
LAMA5laminin subunit alpha 5AlwaysIn 1 condition
SLC13A1solute carrier family 13 member 1AlwaysIn 1 condition
SLC31A1solute carrier family 31 member 1AlwaysIn 1 condition
LMBR1limb development membrane protein 1Very often (80–99%)In 2 conditions
SHOXSHOX homeoboxVery often (80–99%)In 3 conditions
BMPR1Bbone morphogenetic protein receptor type 1BOften (30–79%)In 1 condition
CEP120centrosomal protein 120Often (30–79%)In 1 condition
EIF4A3eukaryotic translation initiation factor 4A3Often (30–79%)In 2 conditions
GDF5growth differentiation factor 5Often (30–79%)In 3 conditions
SHHsonic hedgehog signaling moleculeOften (30–79%)In 1 condition
SMOC1SPARC related modular calcium binding 1Often (30–79%)In 1 condition
ZSWIM6zinc finger SWIM-type containing 6Often (30–79%)In 1 condition
DLK1delta like non-canonical Notch ligand 1Sometimes (5–29%)In 1 condition
FLNBfilamin BSometimes (5–29%)In 1 condition
GLI3GLI family zinc finger 3Sometimes (5–29%)In 1 condition
MEG3maternally expressed 3Sometimes (5–29%)In 1 condition
NEK1NIMA related kinase 1Sometimes (5–29%)In 1 condition
RTL1retrotransposon Gag like 1Sometimes (5–29%)In 1 condition
SLC35A2solute carrier family 35 member A2Rarely (1–4%)In 1 condition
ALG12ALG12 alpha-1,6-mannosyltransferaseNot recordedIn 1 condition
DONSONDNA replication fork stabilization factor DONSONNot recordedIn 1 condition
GPC6glypican 6Not recordedIn 1 condition
IHHIndian hedgehog signaling moleculeNot recordedIn 1 condition
LIFRLIF receptor subunit alphaNot recordedIn 1 condition
TBC1D32TBC1 domain family member 32Not recordedIn 1 condition
TCTN3tectonic family member 3Not 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 shankboneShort long bone

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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