Trait

Abnormality of the calf bone

Clinical name: Abnormal fibula morphology

An anomaly of the calf bone (fibula), one of the two bones of the calf.

HPO HP:0002991

Also called: Abnormality of fibula morphology
Body system: Abnormality of limbs Abnormality of the musculoskeletal system

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9 genes linked to Abnormality of the calf bone

Changes in these genes cause rare conditions in which Abnormality of the calf bone 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
LMBR1limb development membrane protein 1	Very often (80–99%)	In 1 condition
SHHsonic hedgehog signaling molecule	Very often (80–99%)	In 1 condition
COL2A1collagen type II alpha 1 chain	Often (30–79%)	In 1 condition
FLNBfilamin B	Often (30–79%)	In 1 condition
ATP7AATPase copper transporting alpha	Sometimes (5–29%)	In 1 condition
BHLHA9basic helix-loop-helix family member a9	Sometimes (5–29%)	In 1 condition
EXT1exostosin glycosyltransferase 1	Sometimes (5–29%)	In 1 condition
EXT2exostosin glycosyltransferase 2	Sometimes (5–29%)	In 1 condition
FGFR2fibroblast growth factor receptor 2	Sometimes (5–29%)	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

Abnormal shape of bones of the lower limbs Abnormality of the calf

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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