Mazabraud syndrome

Also known as: Fibrous dysplasia with intramuscular myxomas

Fibrous dysplasia associated with intramuscular myxomas.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Bone and mineral disorders
Sex & age distribution: Male: affected; Female: affected; Children: rare
Gene(s) involved: GNAS

Etiology & mechanism

Somatic GNAS activating variants.

Gene(s) involved (1)

GNAS

Symptoms & signs (4)

bone painfracturesleg length discrepancysoft tissue mass

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.