Abnormal shape of bones of the lower limbs

3 genes linked to Abnormal shape of bones of the lower limbs

Changes in these genes cause rare conditions in which Abnormal shape of bones of the lower limbs 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.

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

• Abnormality of the thighbone41 genes
• Wide toe bones24 genes
• Abnormality of the shankbone16 genes
• Abnormality of the calf bone9 genes
• Abnormality of the long bone of foot9 genes
• Abnormal ankle bones3 genes
• Osteolysis involving bones of the lower limbs3 genes
• Absent/small lower limb bones
• Duplication involving bones of the feet
• Fusion involving the bones of the lower limbs

Broader traits

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.