Rare diseases · Sign or symptom
Abnormal distal femoral metaphysis morphology
Abnormality of wide portion of outermost thighbone
HP:0030299
What it means
An anomaly of the metaphysis of the distal femur (close to the knee).
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: Distal femoral metaphyseal abnormality
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Start free with EleplanThis 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.