Multiple endocrine neoplasia type 2B

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Synonyms: MEN2B | Multiple endocrine neoplasia type 3 | Wagenmann-Froboese syndrome

A rare form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by aggressive medullary thyroid carcinoma in association with other endocrine tumors notably pheochromocytoma (one or both adrenal glands can be affected). Onset is typically in infancy or childhood and patients often have a typical facies (mucosal neuromas of the lips and tongue and bumpy lips) ophthalmologic abnormalities (alacrima in infancy thickened and everted eyelids mild ptosis and prominent corneal nerves) skeletal anomalies (marfanoid body habitus narrow long facies pes cavus pectus excavatum high-arched palate scoliosis hyperextensible joints and slipped capital femoral epiphyses) and a generalized ganglioneuromatosis throughout the aerodigestive tract. Chronic constipation abdominal distension diarrhea or megacolon at birth are often the initial manifestations.

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

Cache DNA

At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.

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.

SALUS

Educate and provide resources to POC with Rare Cancers

The National Adrenal Diseases Foundation

The National Adrenal Diseases Foundation informs, educates, and supports those with adrenal disease and their families to improve their quality of life. Our goals are: To stop death from undiagnosed Addison’s disease. To improve life quality of those who suffer from adrenal disease. To promote the study of adrenal disease to improve treatment and find cures.

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Clinical Trials

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