Peters plus syndrome

Also known as: Krause–Kivlin syndrome

Peters anomaly with short stature and brachydactyly.

Medical specialty: Ophthalmology
Subspecialty: Ophthalmology / Glaucoma
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: B3GLCT, CYP1B1, FOXC1, PAX6, PITX2

Etiology & mechanism

Defective O-fucosylation by B3GLCT.

Gene(s) involved (5)

B3GLCTCYP1B1FOXC1PAX6PITX2

Symptoms & signs (6)

brachydactylycentral corneal opacitycleft lip and palatedevelopmental delayglaucomashort stature

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