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Rieger anomaly

Orpha number ORPHA91483
Synonym(s) -
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q13.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA
  • 10059198

Summary

Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld’s anomaly (see this term).


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Detailed information

Summary information
Guidance for genetic testing
  • EN (2011,pdf)
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