Axenfeld-Rieger syndrome type 3

Term ID

DOID:0110122

Synonyms

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

Definition

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. https://www.ncbi.nlm.nih.gov/pubmed/9792859

References

• ICD10CM:Q13.8
• MIM:602482

Ontology

Human Disease   ( DOID:0110122 )