Camurati–Engelmann syndrome

Also known as: Progressive diaphyseal dysplasia

Hyperostosis of long bones and skull.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Bone and mineral disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: TGFB1

Etiology & mechanism

TGFB1 activating variants.

Gene(s) involved (1)

TGFB1

Symptoms & signs (6)

bone paincranial hyperostosiscranial nerve compressionfatiguemuscle weaknesswaddling gait

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