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A new disease profile is added to our database – Rieger syndrome. Rieger syndrome is a genetic disease with eye anomalies (Rieger anomaly), hypodontia, facial, kidney, intestinal and ear malformations, mental retardation. Mutations in a homeobox transcription factor gene, PITX2 localized in the long arm of chromosome 4: 4q25-26 (Rieger syndrome type 1). Linkage studies indicated that Rieger syndrome type 2 maps to the long arm of chromosome 13 (13q14).To receive more detailed information about the disease, please click here and send us a request. The profile was written by our consultant in medical genetics – Dr. Radka Stoeva, MD