Living with Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
A rare genetic birth difference affecting leg bones and toes, with a missing or underdeveloped fibula, bent shin bone and fewer toes.
Understanding Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
The main features are a missing or underdeveloped fibula in one or both legs, curved shin bones (tibial campomelia), and fewer toes than usual on the outer side of the lower limbs. Some people also have fewer fingers on the hands or arms and a cleft lip and/or palate.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes:
- Missing or underdeveloped fibula
- Curved shin bone (tibial campomelia)
- Fewer toes than usual
- Fewer fingers in some people
- Cleft lip or palate in some people
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 doesn't describe a cause for this condition yet, except that it is genetic.
Also known as: fatco syndrome; fibular aplasia-tibial campomelia-oligosyndactyly syndrome; fibular aplasia, tibial campomelia, oligo-syndactyly syndrome; terminal transverse defects of the limbs associated with congenital heart malformations
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 Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome.
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