Living with Autosomal recessive amelia
A rare condition in which the arms are missing and the legs are severely underdeveloped.
Understanding Autosomal recessive amelia
Minor differences in the face have also been reported. These include a flat nasal root, an upturned nose, creases under the eyes, prominent cheeks, and a small lower jaw (micrognathia).
Signs & symptoms
GARD doesn't list specific symptoms for this condition. The summary describes these features:
- Absence of the upper limbs
- Severe underdevelopment of the lower limbs
- Flat nasal root and upturned nose
- Creases under the eyes
- Prominent cheeks
- Small lower jaw (micrognathia)
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
It is autosomal recessive, which means a child inherits a changed copy of a gene from each parent. GARD does not name a gene here.
Also known as: amelia, posterior, with pelvic and pulmonary hypoplasia 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 Autosomal recessive amelia.
Explore research for Autosomal recessive amelia
Explore actively recruiting Autosomal recessive amelia studies with HealthSpark.
Find actively recruiting studies for Autosomal recessive amelia 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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