Rare diseases · Sign or symptom

Abnormal limb bone morphology

Abnormal shape of limb bone

HP:0002813

What it means

Any abnormality of bones of the arms or legs.

Rare diseases that can present with this7

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Abnormality of limb bone morphology · Arm and/or leg bone differences · Limb abnormality

Abnormal limb bone morphology

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This page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.