Living with Grebe syndrome
A rare bone condition present at birth with very short arms and legs, but normal facial features and intelligence.
Understanding Grebe syndrome
Features include severe short stature at birth, severe shortening and deformity of the long bones, fused or missing wrist and ankle bones, and ball-shaped fingers. Sometimes there are extra fingers or missing joints. Facial features and intelligence are normal. It is noticed during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very short, bowed long bones
- Missing or small thumbs
- Fused wrist and ankle bones
- Extra little finger (polydactyly)
- Joint stiffness
- Short calf bone (fibula)
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. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: acromesomelic dysplasia 2a; acromesomelic dysplasia grebe type; acromesomelic dysplasia, grebe type; chondrodysplasia, grebe type; grebe chondrodysplasia; grebe dysplasia
Patient organizations
- Little People of AmericaGrebe syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Grebe syndrome.
Explore research for Grebe syndrome
Explore actively recruiting Grebe syndrome studies with HealthSpark.
Find actively recruiting studies for Grebe syndrome 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 Grebe syndrome 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 Grebe syndrome
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 Grebe syndrome 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.