Living with Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
A very rare condition described in two families, with short or missing limb bones, split hands or feet, hearing loss, and a heart rhythm difference.
Understanding Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
It involves phocomelia (very short or missing limb bones, affecting the arms more), ectrodactyly (a split hand or foot), ear differences, hearing loss from the middle ear, certain facial features, and sinus arrhythmia (an uneven heart rhythm). The four people were a father and son and a mother and daughter.
Signs & symptoms
GARD doesn't list specific symptoms, but the summary describes:
- Very short or missing arm and leg bones (phocomelia)
- Split hand or foot (ectrodactyly)
- Differences in the outer ears
- Hearing loss from the middle ear
- Long, prominent philtrum (the groove above the lip)
- Uneven heart rhythm (sinus arrhythmia)
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
GARD doesn't describe a cause for this condition yet. It was seen in a parent and child in two families.
Also known as: facioauriculoradial dysplasia; phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome; stoll lévy francfort syndrome; stoll-lévy-francfort 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 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome.
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