Gorham syndrome

Also known as: Gorham–Stout syndrome

Massive osteolysis due to lymphatic proliferation.

Medical specialty: Orthopedics
Subspecialty: Orthopedics / Bone tumors
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes
Gene(s) involved: KRAS, PIK3CA

Etiology & mechanism

Lymphatic endothelial cell proliferation in bone.

Gene(s) involved (2)

KRASPIK3CA

Symptoms & signs (4)

chylothoraxpainpathologic fracturesprogressive bone loss

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