Rare diseases · Sign or symptom
Abnormal appendicular muscle morphology
Abnormal limb muscles
HP:0009127
What it means
A structural anomaly of the appendicular musculature, comprising muscles of the upper limb and pectoral girdle as well as muscles of the lower limb and pelvic girdle.
Rare diseases that can present with this2
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: Muscle issues in the arms and/or legs
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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.