Congenital hereditary facial paralysis-variable hearing loss syndrome
Synonyms: 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
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version June 2023.
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For a list of clinical trials in this disease area, please click here.