Mazabraud syndrome
Synonyms: Myxoma with fibrous dysplasia
Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain skeletal deformities or fractures while intramuscular myxoma associated with polyostotic fibrous dysplasia (see this term) is usually multifocal typically occuring in the vicinity of skeletal lesions and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.
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 April 2024
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Mazabraud syndrome?
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Advocacy Organizations
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My Little Sunshine Foundation
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SALUS
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Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
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