Congenital hereditary facial paralysis-variable hearing loss syndrome
Congenital hereditary facial paralysis-variable hearing loss 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.
Also known as congenital hereditary facial palsy with variable deafness, congenital hereditary facial palsy with variable hearing loss, congenital hereditary facial paralysis with variable deafness, congenital hereditary facial paralysis-variable deafness syndrome — per MONDO