Living with Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
A rare condition with painful, non-cancerous nerve tumors around the eyes and body and a tall, slim build.
Understanding Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
Benign (not cancer) nerve sheath tumors called plexiform neurofibromas grow in the eye sockets, skull, large spinal nerves, and moist body linings. People also have a tall, slim, Marfan-like build, enlarged nerves in the eyes, and certain facial features. GARD lists the onset as the teenage years.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Painful nerve tumors (neurofibromas)
- Tall, slim, Marfan-like build
- Enlarged nerves in the cornea of the eye
- Drooping eyelid (ptosis)
- Bulging eyes (proptosis)
- Lumps in the lips and under the tongue
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 brain and nervous system specialists and cancer specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists)
- 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.
Also known as: painful orbital and systemic neurofibroma, marfanoid habitus 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 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome.
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