Rare diseases · Sign or symptom
Abnormal femur morphology
Abnormality of the thighbone
HP:0002823
What it means
Any anomaly of the structure of the femur.
The femur (plural: femora) is the thigh bone.
Rare diseases that can present with this32
Very common80–99%
10- Absence deformity of leg-cataract syndrome
- Camurati-Engelmann disease
- Coxoauricular syndrome
- Diaphragmatic defect-limb deficiency-skull defect syndrome
- Femur-fibula-ulna complex
- Ghosal hematodiaphyseal dysplasia
- Léri-Weill dyschondrosteosis
- Satoyoshi syndrome
- Splenogonadal fusion-limb defects-micrognathia syndrome
- Verloove Vanhorick-Brubakk syndrome
Common30–79%
10The 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 femur morphology · Abnormality of the femora
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.