A partial paralysis of the face, pharynx and jaw caused by bilateral damage to the operculum.

Bloom syndrome

A rare X-linked condition typically including follicular atrophoderma, multiple basal cell carcinomas, hypotrichosis, and hypohidrosis.

Plummer-Vinson syndrome

A rare genetic skin disorder characterized by hyperkeratosis, lesions, or dark markings on the skin; erythrokeratodermia variabilis.

A very rare, usually familial, fatal neurodegenerative disease, classified as a transmissible spongiform encephalopathy.

A rare autoimmune disorder characterized by muscle weakness of the limbs.

A rare medical condition characterized by a vascular malformation extending from the craniofacial to the orbital regions and the brain.

A preexcitation syndrome caused by the presence of an abnormal accessory electrical conduction pathway (the bundle of Kent) between the atria and the ventricles.

A congenital failure of cholesterol synthesis, with effects ranging from mild intellectual disability to lethal malformations.