Living with Acromesomelic dysplasia 2B
A rare bone condition, also called Du Pan syndrome, with short or missing calf bones and very short hands and feet.
Understanding Acromesomelic dysplasia 2B
People have underdeveloped or missing fibulae (calf bones) and severe differences in the hands and feet. Mental development is normal. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short or missing calf bones (fibula)
- Short fingers and toes
- Short stature
- Fused wrist or ankle bones
- Limited joint movement
- Short or small limbs
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 GDF5 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
Changes in the GDF5 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: aplasia of fibula co-occurrent with complex brachydactyly; du pan syndrome; fibular aplasia and complex brachydactyly; fibular aplasia-complex brachydactyly syndrome; fibular hypoplasia and complex brachydactyly
Patient organizations
- Little People of AmericaAcromesomelic dysplasia 2B · United States
You are more than your diagnosis
Perspectives from people navigating life with Acromesomelic dysplasia 2B.
Explore research for Acromesomelic dysplasia 2B
Explore actively recruiting Acromesomelic dysplasia 2B studies with HealthSpark.
Find actively recruiting studies for Acromesomelic dysplasia 2B 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Acromesomelic dysplasia 2B studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Acromesomelic dysplasia 2B
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Acromesomelic dysplasia 2B experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.