Langer–Giedion syndrome

Also known as: Trichorhinophalangeal syndrome type II

Deletion of 8q24.1 with multiple exostoses and sparse hair.

Medical specialty: Genetics
Subspecialty: Genetics / Chromosomal disorders
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes
Gene(s) involved: EXT1, TRPS1

Etiology & mechanism

Contiguous deletion of TRPS1 and EXT1.

Gene(s) involved (2)

EXT1TRPS1

Symptoms & signs (5)

cone-shaped epiphysesintellectual disabilitymultiple exostosespear-shaped nosesparse hair

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