Living with Macrostomia-preauricular tags-external ophthalmoplegia syndrome
A rare syndrome from birth with a wide mouth, small skin tags or pits near the ears, and drooping eyelids.
Understanding Macrostomia-preauricular tags-external ophthalmoplegia syndrome
It affects structures formed early in development and belongs to the oculoauriculovertebral spectrum. People have a wide or unusually shaped mouth, skin tags or pits in front of the ears, and a drooping eyelid from weak eye muscles. It can affect one or both sides. It is present in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Unusual mouth shape (macrostomia)
- Drooping upper eyelid (ptosis)
- Weak or paralyzed eye muscles (ophthalmoplegia)
- Pit in front of the ear (preauricular pit)
- Skin tag in front of the ear
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 (also called variants) cause this condition. It is inherited in an autosomal dominant way, so a change in one copy of the gene can be enough to cause it.
Also known as: macrostomia, preauricular tag, external ophthalmoplegia 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 Macrostomia-preauricular tags-external ophthalmoplegia syndrome.
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