Living with Amelia of lower limb
A rare condition present at birth in which one or both legs are completely or almost completely missing.
Understanding Amelia of lower limb
It can affect one leg (unilateral) or both (bilateral). GARD says it comes from an insult in the womb during the very early stages of development. It may occur on its own, but it is more often seen with other differences present at birth.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes complete or near-complete absence of one or both legs.
- One or both legs missing from birth
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.
- 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)
- 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 it occurs because of an insult in the womb during the very early stages of embryo development. It doesn't describe a gene cause.
Also known as: congenital complete absence of lower limb; hindlimb non-syndromic amelia; non-syndromic amelia of hindlimb; transverse deficiency lower limb - hip level
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 Amelia of lower limb.
Explore research for Amelia of lower limb
Explore actively recruiting Amelia of lower limb studies with HealthSpark.
Find actively recruiting studies for Amelia of lower limb with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- 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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