Rare diseases · Sign or symptom
Myopathic facies
HP:0002058
What it means
A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.
Rare diseases that can present with this18
Common30–79%
12- Allan-Herndon-Dudley syndrome
- Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
- Combined immunodeficiency with facio-oculo-skeletal anomalies
- Congenital fiber-type disproportion myopathy
- Congenital multicore myopathy with external ophthalmoplegia
- Congenital muscular dystrophy with intellectual disability and severe epilepsy
- Congenital myopathy with myasthenic-like onset
- Infantile-onset X-linked spinal muscular atrophy
- Intermediate nemaline myopathy
- Oculopharyngodistal myopathy
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
- Temple-Baraitser syndrome
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: Myopathic face · Myopathic facial appearance
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.