Weill–Marchesani syndrome

Also known as: WMS

Microspherophakia with short stature and brachydactyly.

Medical specialty: Ophthalmology
Subspecialty: Ophthalmology / Congenital malformation
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: ADAMTS10, ADAMTS17, FBN1, LTBP2

Etiology & mechanism

Fibrillin-1 microfibril and ADAMTS defects.

Gene(s) involved (4)

ADAMTS10ADAMTS17FBN1LTBP2

Symptoms & signs (7)

brachydactylyglaucomahigh myopialens dislocationmicrospherophakiashort staturestiff joints

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