Axenfeld-Rieger syndrome (Axenfeld anomaly)

Introduction

when associated with tooth anomalies, known as Rieger syndrome

Pathology

• posterior corneal embryotoxon
• prominent Schwalbe line
• iris adhesion to the Schwalbe line
• hypoplasia of the malar bones
• congenital absence of some teeth

Genetics

• associated with defects in FOXC1

Clinical manifestations

• hypertelorism (wide spacing of the eyes)
• edentulous
• mental retardation
• glaucoma (50%)

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/601090