congenital hereditary facial paralysis-variable hearing loss syndrome
Findings
No curated finding names congenital hereditary facial paralysis-variable hearing loss syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0017627), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HOXB1HGNC:5111
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: congenital hereditary facial paralysis-variable hearing loss syndrome
- Also called
- 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