Living with Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
A rare genetic condition with extra nipples, small skin growths near the ears, and fatty growths on the eyes.
Understanding Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
GARD describes it as a branchial arch syndrome, which affects structures that form in the face and neck before birth. It was described in seven siblings in one Danish family. Features can be seen in newborns and infants.
Signs & symptoms
GARD describes these features in its summary:
- Extra nipples (polythelia)
- Small skin growths in front of the ear (preauricular appendages)
- Fatty growths on the surface of the eye (epibulbar lipodermoids)
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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
Changes in genes cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it. GARD does not name the gene.
Also known as: epibulbar lipodermoid, preauricular appendage, polythelia 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 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome.
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