Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
Alternate names
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus
Definition
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.
NIH genetic and rare disease info
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare disease.
Resources
Frequently asked questions
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