Living with Acropectorovertebral dysplasia
A rare genetic bone condition with fused wrist and ankle bones, webbed fingers, and differences in the breastbone and lower spine.
Understanding Acropectorovertebral dysplasia
People have fusion of certain wrist and ankle bones, webbed first and second fingers, and fewer or extra toes. Chest and lower spine differences can occur, such as a sunken or prominent breastbone and a lower spine difference (spina bifida occulta). Some have dental differences and a high, narrow palate. 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:
- Fused wrist and ankle bones
- Webbed fingers
- Funnel chest
- Spina bifida (occulta)
- Three-jointed thumb
- Mild intellectual disability
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, genetic specialists and lung and breathing 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); Lung and breathing specialists (pulmonologists)
- 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 says changes in genes (also called variants) cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: f syndrome
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 Acropectorovertebral dysplasia.
Explore research for Acropectorovertebral dysplasia
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- Eligibility is confirmed by the study team
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