Disease - Axenfeld-Rieger syndrome 3
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
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
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.
