Living with Nasopalpebral lipoma-coloboma syndrome
A rare condition present from birth with fatty lumps near the nose and eyelids, notched eyelids, and widely spaced eyes.
Understanding Nasopalpebral lipoma-coloboma syndrome
Features include nasopalpebral lipomas (fatty lumps near the nose and eyelids), a notch (coloboma) in the eyelids on both sides, and widely spaced inner corners of the eyes (telecanthus). Other features can include small eyeballs, cataracts, and a long, narrow head. It is autosomal dominant.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fatty lumps near the eyelids (lipomas)
- Notches in the eyelids (coloboma)
- Widely spaced eyes (telecanthus)
- Small eyeballs (microphthalmia)
- Cataracts
- Extra tearing (epiphora)
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 eye disease 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
- Eye disease specialists (ophthalmologists); 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. It is autosomal dominant, which means one changed copy of a gene can be enough to cause it.
Also known as: nasopalpebral lipoma coloboma syndrome; palpebral coloboma lipoma 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 Nasopalpebral lipoma-coloboma syndrome.
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