Living with Tibial hemimelia
A rare condition present at birth in which the shinbone is missing or underdeveloped in one or both legs.
Understanding Tibial hemimelia
It can affect one or both legs. Some cases occur alone, and others are part of a syndrome or come with other bone differences. Most isolated cases occur with no family history, but it can rarely affect more than one family member.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing shinbone (tibia)
- Club feet
- Knee that cannot fully straighten (flexion contracture)
- Short lower legs
- Split hand
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 GLI3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- 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 the cause is generally unknown. The GLI3 gene is listed, and both autosomal dominant and autosomal recessive inheritance are noted.
Also known as: absence of tibia; agenesis of tibia; congenital absence of tibia; congenital aplasia and dysplasia of the tibia with intact fibula; congenital longitudinal deficiency of the tibia; tibial longitudinal meromelia
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 Tibial hemimelia.
Explore research for Tibial hemimelia
Explore actively recruiting Tibial hemimelia studies with HealthSpark.
Find actively recruiting studies for Tibial hemimelia 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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