Living with Maffucci syndrome
A rare condition affecting bones and skin, with cartilage growths in the bones and red or purple skin growths.
Understanding Maffucci syndrome
People develop multiple enchondromas, which are noncancerous cartilage growths inside bones, most often in the hands and feet. They can cause bone deformities, shorter limbs, and fractures. Skin growths made of tangled blood vessels (hemangiomas) set it apart from Ollier disease. Signs may be present at birth but often appear around age 5.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Multiple cartilage growths in bones (enchondromas)
- Red or purple skin growths (hemangiomas)
- Bone pain
- Short stature
- Scoliosis (curved spine)
- Firm lumps under the skin
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, cancer specialists, genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Cancer specialists (oncologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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 Children's Skin Disease Foundation
- 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 genes (also called variants) cause this condition. GARD does not name a specific gene in this record.
Also known as: chondrodysplasia with hemangioma; chondroplasia angiomatosis; dyschondrodysplasia with hemangiomas; dyschondroplasia and cavernous hemangioma; enchondromatosis with hemangiomata; enchondromatosis with multiple cavernous hemangiomas
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Maffucci syndrome.
Explore research for Maffucci syndrome
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- 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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