Painful orbital and systemic neurofibromas-marfanoid habitus syndrome

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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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Advocacy Organizations

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

My Little Sunshine Foundation

My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

SALUS

Educate and provide resources to POC with Rare Cancers

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Clinical Trials

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