Living with Short stature-advanced bone age-early-onset osteoarthritis syndrome
A rare genetic bone condition with short height, early-maturing bones and joint wear that can start early.
Understanding Short stature-advanced bone age-early-onset osteoarthritis syndrome
People are short with evenly proportioned bodies, and their bones stop growing early. Joint problems such as early osteoarthritis and osteochondritis dissecans (damaged cartilage and bone in a joint) may occur. Hormone tests are normal. Some people have a large forehead, a flat midface, short fingers and broad thumbs. It starts in childhood or the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Slowed growth
- Flat or sunken midface
- Short fingers or toes
- Short thumbs
- Joint wear (degenerative joint disease)
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.
- 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.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America
- 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: short stature, advanced bone age, early-onset osteoarthritis syndrome
Patient organizations
- Little People of AmericaShort stature-advanced bone age-early-onset osteoarthritis syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Short stature-advanced bone age-early-onset osteoarthritis syndrome.
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