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Definition

An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome.

Acronym

RIEG3

Synonyms

Anterior chamber cleavage syndrome
Anterior segment mesenchymal dysgenesis
Axenfeld anomaly
Axenfeld-Rieger anomaly
Axenfeld-Rieger anomaly with cardiac defects and/or sensorineural hearing loss
Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss
Rieger anomaly
Rieger syndrome type 3

Keywords

Deafness

 
Disclaimer

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