Multiple hereditary exostoses syndrome

Also known as: Hereditary multiple osteochondromas

Multiple osteochondromas.

Medical specialty: Orthopedics
Subspecialty: Orthopedics / Bone tumors
Sex & age distribution: Male: affected, male predominance; Female: affected, reduced penetrance; Children: yes, noticed in childhood
Gene(s) involved: EXT1, EXT2

Etiology & mechanism

Loss of EXT1 or EXT2 heparan sulfate synthesis.

Gene(s) involved (2)

EXT1EXT2

Symptoms & signs (6)

chondrosarcoma risklimb deformitymultiple bony lumpsnerve compressionpainshort stature

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