Rare diseases · Sign or symptom

Abnormal limb epiphysis morphology

Abnormal shape of end part of limb bones

HP:0006505

What it means

An anomaly of one or more epiphyses of a limb.

An epiphysis is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.

Rare diseases that can present with this1

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 involving the epiphyses of the limbs · Abnormality of limb epiphysis morphology

Abnormal limb epiphysis 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.