Abnormal shape of limb bone

4 genes linked to Abnormal shape of limb bone

Changes in these genes cause rare conditions in which Abnormal shape of limb 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.

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 wide portion of a long bone95 genes
• Abnormal shape of shaft of long bone15 genes
• Abnormality of fingers or toes15 genes
• Cleft hand15 genes
• Acromicria13 genes
• Aplasia/hypoplasia involving bones of the extremities5 genes
• Abnormal shape of bones of the lower limbs3 genes
• Subperiosteal bone resorption3 genes
• Limb duplication1 gene
• Abnormal shape of bones of the upper limbs
• Abnormal shape of end part of limb bones

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.