Living with Tetraamelia
A very rare condition in which all four limbs are missing, often with other differences in the body.
Understanding Tetraamelia
It can also cause serious differences in the nervous system, face, head, heart, skeleton, digestive system, urinary tract, and genitals. The lungs are underdeveloped in many cases. There are two described forms. Type 1 often has digestive and urinary tract problems, and type 2 often involves missing lungs, heart differences, and facial differences.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Absence of all four limbs
- Underdeveloped or missing lungs
- Opening in the belly wall (abdominal wall defect)
- No anal opening (imperforate anus)
- Kidneys that did not form (renal agenesis)
- Heart wall defects (septal defects)
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 changes in genes (variants) cause this condition, but it doesn't name a specific gene here. The two forms differ in their genetic cause.
Also known as: tetra-amelia; tetra-amelia syndrome; total amelia
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 Tetraamelia.
Explore research for Tetraamelia
Explore actively recruiting Tetraamelia studies with HealthSpark.
Find actively recruiting studies for Tetraamelia 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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