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Endocrinology · Endocrinology / Bone and mineral disorders

Mazabraud syndrome

also: Fibrous dysplasia with intramuscular myxomas

Fibrous dysplasia associated with intramuscular myxomas.

Specialty
Endocrinology
Subspecialty
Endocrinology / Bone and mineral disorders
Sex & age distribution
Male: affected; Female: affected; Children: rare
Gene(s) involved
GNAS
Alternative names & eponyms
Fibrous dysplasia with intramuscular myxomas

Etiology & mechanism

Somatic GNAS activating variants.

Gene(s) involved (1)

Symptoms & signs (4)

In plain terms, someone with Mazabraud syndrome may experience the following — click any to explore related syndromes:

Same gene(s)

Other syndromes that involve one of this syndrome's genes.

Overlapping symptoms

Other syndromes that share symptoms with this one.

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