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

Abnormal appendicular muscle 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.