Agent Commons Collaborative Research

Congenital hereditary facial paralysis-variable hearing loss syndrome

rare

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.

Identifiers
MONDO:0017627 Orphanet:306530
Part of
Disorder of facial skeletonSyndromic disease
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

Subtypes

All diseases Rare only
Disease Subtypes
Facial paresis, hereditary congenital, 2
Facial paresis, hereditary congenital, 3

Rare disease

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