Living with Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
A genetic joint condition with damaged cartilage and bone in several joints, short height and early arthritis.
Understanding Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
Pieces of cartilage and the bone beneath it can come loose from the ends of bones, mostly in the knees, elbows, hips and ankles. This causes stiffness, pain and swelling, and a joint may catch or lock. Short stature and osteoarthritis at an early age are also common. GARD notes that a similar form with one damaged spot, often in the knee, may come from injury or repeated use. It starts in childhood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features include:
- Joint pain, stiffness and swelling
- Joint that catches or locks
- Damaged cartilage in several joints
- Short stature
- Arthritis (osteoarthritis) at a young age
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, bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in ACAN 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
- autoimmune and inflammatory disease specialists (rheumatologists); 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
GARD lists changes in the ACAN gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: familial osteochondritis dissecans; od; osteochondritis dissecans and short stature; osteochondritis dissecans, short stature, and early-onset osteoarthritis; ssoaod
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 Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans.
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