Rare diseases · Sign or symptom
Skeletal muscle hypertrophy
Increased skeletal muscle cells
HP:0003712
What it means
Abnormal increase in muscle size and mass not due to training.
Increased muscle bulk based on clinical observation. Myofiber hyperplasia and hypertrophy may contribute but this is not easily tested clinically.
Rare diseases that can present with this20
Very common80–99%
9- Autosomal semi-dominant severe lipodystrophic laminopathy
- CIDEC-related familial partial lipodystrophy
- Congenital generalized lipodystrophy
- Familial partial lipodystrophy, Dunnigan type
- LIPE-related familial partial lipodystrophy
- Muscular pseudohypertrophy-hypothyroidism syndrome
- Myhre syndrome
- SHOX-related short stature
- X-linked Charcot-Marie-Tooth disease type 5
Common30–79%
7The 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: Hypertrophic muscles · Muscle hypertrophy · Muscular hypertrophy
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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.