Marshall syndrome

Also known as: Marshall–Stickler overlap

Stickler-like syndrome with prominent eyes and short stature.

Medical specialty: Ophthalmology
Subspecialty: Ophthalmology / Congenital malformation
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: COL11A1

Etiology & mechanism

COL11A1 splice-site mutations.

Gene(s) involved (1)

COL11A1

Symptoms & signs (6)

cataractfrontal bossinghearing losshigh myopiasaddle noseshort stature

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