Rare diseases · Sign or symptom

Craniofacial dystonia

Abnormal craniofacial muscle tone

HP:0012179

What it means

A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.

Rare diseases that can present with this9

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: Abnormal craniofacial posture · Abnormal facial muscle tone · Distorted craniofacial posture · Facial Dystonia

Craniofacial dystonia

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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.