Overview
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is an extremely rare genetic condition that combines two main features: the growth of painful nerve tumors called neurofibromas throughout the body (including around the eyes, known as the orbital area), and a body shape called marfanoid habitus, which means the person tends to be tall and thin with long arms, legs, and fingers, similar to what is seen in Marfan syndrome. The neurofibromas are benign (non-cancerous) tumors that grow along nerves, but unlike typical neurofibromas seen in neurofibromatosis type 1, these tumors are notably painful. They can appear in the skin, around the eye sockets, and in other parts of the body, causing significant discomfort and sometimes affecting vision or other functions depending on their location. This syndrome is distinct from classic neurofibromatosis type 1 (NF1) because patients typically lack many of the hallmark features of NF1, such as café-au-lait spots, Lisch nodules, and other classic findings, while prominently displaying the painful neurofibromas and the tall, slender body build. Because this condition is so rare, the treatment landscape is limited and mainly focuses on managing symptoms. Pain management is a central part of care, and surgical removal of neurofibromas may be considered when tumors cause significant pain, vision problems, or other complications. There is currently no cure or disease-specific therapy available.
Key symptoms:
Painful lumps or growths on or under the skin (neurofibromas)Growths around the eye sockets that may affect visionTall, thin body buildUnusually long arms, legs, and fingersChronic pain from nerve tumorsLoose or flexible jointsFlat feetSunken or protruding chestFacial pain or pressure from orbital tumorsNumbness or tingling if nerves are compressedPossible vision changes from tumors near the eyes
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Painful orbital and systemic neurofibromas-marfanoid habitus syndrome.
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Specialists
View all specialists →No specialists are currently listed for Painful orbital and systemic neurofibromas-marfanoid habitus syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Painful orbital and systemic neurofibromas-marfanoid habitus syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the best approach to managing my pain from neurofibromas?,How often should I have MRI scans or imaging to monitor tumor growth?,Are there any surgical options for removing painful tumors, and what are the risks?,Should I have genetic testing, and what can it tell us about my condition?,How should my eyes and vision be monitored over time?,Are there any clinical trials or research studies I could participate in?,What should I watch for that would require emergency medical attention?
Common questions about Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
What is Painful orbital and systemic neurofibromas-marfanoid habitus syndrome?
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is an extremely rare genetic condition that combines two main features: the growth of painful nerve tumors called neurofibromas throughout the body (including around the eyes, known as the orbital area), and a body shape called marfanoid habitus, which means the person tends to be tall and thin with long arms, legs, and fingers, similar to what is seen in Marfan syndrome. The neurofibromas are benign (non-cancerous) tumors that grow along nerves, but unlike typical neurofibromas seen in neurofibromatosis type 1, these tumors
How is Painful orbital and systemic neurofibromas-marfanoid habitus syndrome inherited?
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.