Living with Congenital hereditary facial paralysis-variable hearing loss syndrome
An extremely rare inherited condition with weak face muscles on both sides, hearing loss and eyes that do not line up.
Understanding Congenital hereditary facial paralysis-variable hearing loss syndrome
People have facial palsy on both sides, which gives the face a mask-like look. They also have hearing loss from inner ear or nerve problems, eyes that do not line up (strabismus), and facial differences such as a flat midface and low-set ears. It is seen in newborns and infants.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. The summary describes:
- Facial palsy on both sides with a mask-like face
- Hearing loss (sensorineural)
- Eyes that do not line up (strabismus)
- Flat midface
- Low-set ears
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in HOXB1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Facial Paralysis & Bell's Palsy Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the HOXB1 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
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 with variable hearing loss syndrome; congenital hereditary facial paralysis-variable deafness syndrome
Patient organizations
- Facial Paralysis & Bell's Palsy FoundationCongenital hereditary facial paralysis-variable hearing loss syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital hereditary facial paralysis-variable hearing loss syndrome.
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