Living with Congenital absence of upper arm and forearm with hand present
A rare limb condition present from birth in which the upper arm and forearm are missing or very short, but the hand is normal or nearly so.
Understanding Congenital absence of upper arm and forearm with hand present
The upper and middle parts of the arm are absent or much shorter, while the hand is normal or nearly normal. It can affect one or both arms. It can happen on its own or as part of a syndrome. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists this as the most common:
- Hand attached close to the body (upper limb phocomelia)
- Missing or very short upper arm and forearm
- Hand normal or nearly normal
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 cause this condition, but doesn't list a specific gene or inheritance pattern.
Also known as: complete phocomelia of upper limb; humero-radio-ulnar intercalary transverse meromelia; phocomelia
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 Congenital absence of upper arm and forearm with hand present.
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