Axenfeld–Rieger syndrome

Also known as: Axenfeld–Rieger anomaly

Anterior segment dysgenesis with glaucoma and systemic anomalies.

Medical specialty: Ophthalmology
Subspecialty: Ophthalmology / Glaucoma
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: FOXC1, FOXO1, PITX2, PRDM5

Etiology & mechanism

Neural crest developmental defect.

Gene(s) involved (4)

FOXC1FOXO1PITX2PRDM5

Symptoms & signs (7)

dental hypodontiafacial flatteningglaucomairis hypoplasiapolycoriaposterior embryotoxonumbilical anomalies

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