Living with Hemifacial hypertrophy
A rare condition in which one side of the face grows larger than the other, starting before or soon after birth.
Understanding Hemifacial hypertrophy
In true hemifacial hypertrophy, all facial structures on one side are enlarged. In the partial form, only some are. It can occur alone or with other syndromes. It may be linked with breathing problems, hearing loss, or trouble swallowing. It starts during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlargement of half of the face
- Uneven face (facial asymmetry)
- Bite that does not line up (malocclusion)
- Bigger half of the tongue (hemimacroglossia)
- Larger teeth (macrodontia)
- Curved wall inside the nose (deviated septum)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 changes in genes (also called variants) cause this condition. It is listed as autosomal dominant. It may also occur with other syndromes.
Also known as: enlargement of half of face; facial hemihyperplasia; facial hemihypertophy; facial hemihypertrophy; friedreich's disease; hemifacial enlargement
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 hypertrophy.
Explore research for Hemifacial hypertrophy
Explore actively recruiting Hemifacial hypertrophy studies with HealthSpark.
Find actively recruiting studies for Hemifacial hypertrophy with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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