Rare diseases · Sign or symptom
Mask-like facies
Expressionless face
HP:0000298
What it means
A lack of facial expression often with staring eyes and a slightly open mouth.
Mask-like facies can be seen in many neurological disorders such as Parkinsonism and myotonic dystrophy.
Rare diseases that can present with this32
Very common80–99%
14- 8q22.1microdeletion syndrome
- Aniridia-cerebellar ataxia-intellectual disability syndrome
- Blepharonasofacial malformation syndrome
- Congenital muscular dystrophy, Fukuyama type
- Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- Facioscapulohumeral dystrophy
- Infant botulism
- Marden-Walker syndrome
- Melkersson-Rosenthal syndrome
- Moebius syndrome
- Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
- Multiple pterygium-malignant hyperthermia syndrome
- TRIM32-related limb-girdle muscular dystrophy R8
- Zellweger-like syndrome without peroxisomal anomalies
Common30–79%
9Sometimes5–29%
9- 15q11q13microduplication syndrome
- Autosomal recessive spastic paraplegia type 35
- Classic pantothenate kinase-associated neurodegeneration
- Huntington disease-like 1
- Oculopharyngeal muscular dystrophy
- Severe oculo-renal-cerebellar syndrome
- Sporadic infantile bilateral striatal necrosis
- X-linked creatine transporter deficiency
and 1 more in this range
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: Amimia · Lack of facial expression · Mask-like facial appearance · Masklike facies
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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.