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Axenfeld-Rieger syndrome (Axenfeld anomaly)
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%)
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 601090
MORBIDMAP 601090
References
OMIM :accession 601090