Living with Fibrous dysplasia of jaw
A condition (cherubism) in which the jaw bones enlarge with painless, cyst-like growths in childhood, giving the cheeks a full, rounded look.
Understanding Fibrous dysplasia of jaw
It begins in early childhood. Both jaws become enlarged as bone is replaced with painless, cyst-like growths that swell the cheeks and can affect tooth development. It is mild in some people and severe enough in others to cause vision, breathing, speech, and swallowing problems. Growth usually continues through childhood and stabilizes in puberty, and the growths are gradually replaced with normal bone in early adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Full, rounded cheeks
- Broad jaw
- Cyst-like bone growths
- Missing or abnormal teeth
- Tooth development problems
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 autoimmune and inflammatory disease specialists, allergy and immune system specialists, bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in SH3BP2 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
FD/MAS Alliance and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Allergy and immune system specialists (allergists / immunologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: FD/MAS Alliance, Immune Deficiency 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 FD/MAS Alliance 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 SH3BP2 gene cause it. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: cherubism; crbm; familial fibrous dysplasia of jaw; familial fibrous dysplasia of the jaws; familial multilocular cystic disease of the jaws
Patient organizations
- FD/MAS AllianceFibrous dysplasia of jaw · United States
- Children's Craniofacial AssociationFibrous dysplasia of jaw · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Fibrous dysplasia of jaw.
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