Axenfeld-Rieger syndrome type 3

An Axenfeld-Rieger characterized by an anteriorly displaced Schwalbe line, the presence of another ocular anomaly (hypoplasia of iris stroma, corectopia, or iridocorneal adhesions), and nonocular anomalies including maxillary hypoplasia, hypodontia, microdonti

An Axenfeld-Rieger characterized by an anteriorly displaced Schwalbe line, the presence of another ocular anomaly (hypoplasia of iris stroma, corectopia, or iridocorneal adhesions), and nonocular anomalies including maxillary hypoplasia, hypodontia, microdontia, protuberant periumbilical skin, sensorineural hearing loss, and congenital cardiac or renal anomalies syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.

Signs and symptoms

• Ectopia pupillae
• Posterior embryotoxon
• Hypoplasia of the iris
• Hypertelorism
• Cerebellar vermis hypoplasia
• Midface retrusion
• Sensorineural hearing impairment
• Concave nasal ridge
• Hypodontia
• Patent ductus arteriosus

Also known as: Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss; RIEG3; Rieger syndrome type 3; anterior chamber cleavage syndrome; anterior segment mesenchymal dysgenesis