Gorham–Stout syndrome

Also known as: Vanishing bone disease

Progressive osteolysis with lymphatic proliferation.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Bone and mineral disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: KRAS, NRAS

Etiology & mechanism

Lymphatic endothelial proliferation drives bone resorption.

Gene(s) involved (2)

KRASNRAS

Symptoms & signs (5)

bone painchylothoraxlimb swellingpathologic fracturesprogressive bone loss

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