Living with Genochondromatosis type 2
A rare genetic bone condition with cartilage growths in the thigh, arm, wrist, hand, and foot bones that fade later in life.
Understanding Genochondromatosis type 2
The collarbones are normal. Symmetrical growths are found especially in the lower thigh bone, upper arm bone, and the bones of the wrists, hands, and feet. GARD says the growths regress later in life, and clinical examination is normal and the course is benign. It is usually noticed in childhood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes cartilage growths in the bones.
- Cartilage growths (enchondromas) in several bones
- Normal collarbones
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 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
Changes in genes cause this condition. GARD does not name the gene or describe how it is inherited.
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 Genochondromatosis type 2.
Explore research for Genochondromatosis type 2
Explore actively recruiting Genochondromatosis type 2 studies with HealthSpark.
Find actively recruiting studies for Genochondromatosis type 2 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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