Living with Hemifacial myohyperplasia
A developmental condition where tissues on one side of the face are enlarged, often the right side.
Understanding Hemifacial myohyperplasia
It often affects the right side and is seen more often in males. The enlargement can change the shape of the jaw. Face differences become more noticeable with age and settle at the end of adolescence. Other features can include epilepsy, eye turning (strabismus), and intellectual disability. It starts in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlargement of half of the face
- Curved wall inside the nose (deviated septum)
- Dimple in the chin
- Drooping upper eyelid (ptosis)
- Narrow opening between the eyelids
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 ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in PIK3CA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
GARD says the cause is unknown, though the PIK3CA gene is listed. Theories include hormone imbalance, nerve differences, chromosome differences, and blood or lymph vessel differences.
Also known as: hfmh
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hemifacial myohyperplasia.
Explore research for Hemifacial myohyperplasia
Explore actively recruiting Hemifacial myohyperplasia studies with HealthSpark.
Find actively recruiting studies for Hemifacial myohyperplasia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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