/congenital hereditary facial paralysis-variable hearing loss syndrome

congenital hereditary facial paralysis-variable hearing loss syndrome

Rare Disease

MONDO:0017627

Also Known As

congenital hereditary facial palsy with variable deafnesscongenital hereditary facial palsy with variable hearing losscongenital hereditary facial paralysis with variable deafnesscongenital hereditary facial paralysis-variable deafness syndrome

Definition

Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.