Living with Ramon syndrome
A rare genetic condition with painless facial swelling (cherubism), seizures, gum overgrowth, and intellectual disability.
Understanding Ramon syndrome
The facial swelling runs from the jaw to the lower edge of the eye sockets on both sides. The overgrown gums can cover the teeth. Other features can include extra body hair, slow growth, juvenile arthritis, and eye differences. GARD lists onset in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Full cheeks from painless jaw swelling (cherubism)
- Seizures
- Overgrown gums (gingival fibromatosis)
- Intellectual disability
- Late tooth eruption
- Extra body hair
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 bone and joint specialists, brain and nervous system specialists, genetic specialists and gum, teeth and mouth specialists.
- 3Consider genetic testing
Changes in ELMO2 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- 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
This condition is caused by changes in the ELMO2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: cherubism-gingival fibromatosis-intellectual disability syndrome; cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth
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 Ramon syndrome.
Explore research for Ramon syndrome
Explore actively recruiting Ramon syndrome studies with HealthSpark.
Find actively recruiting studies for Ramon syndrome 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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