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Axenfeld-Rieger anomaly : ウィキペディア英語版 | Axenfeld syndrome
Axenfeld syndrome (also known as Axenfeld-Rieger syndrome or Hagedoom syndrome) is a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region. ==Eponym== It is named after the German ophthalmologist Theodor Axenfeld who studied anterior segment disorders, especially those such as Rieger Syndrome and the Axenfeld Anomaly. The term "Rieger syndrome" is sometimes used to indicate an association with glaucoma. Rieger Syndrome is by medical definition determined by the presence of malformations of the teeth, the underdevelopment of the anterior segment of the eye, along with the manifestations caused by the Axenfeld anomaly. In addition to these occurrences, a prominent Schwalbe's line, an opaque ring around the cornea known as posterior embryotoxon, and hypoplasia of the iris can occur. Glaucoma occurs in up to 50% of patients with Axenfeld-Rieger Syndrome.〔Yoko A Ito, Michael A Walter. Genomics and anterior segment dysgenesis: a review. Clinical and Experimental Ophthalmology 2014; 42: 13–24〕 Other defects such as a lower than average height and stature, a stunt in the development of the mid-facial features and mental deficiencies may be observed.
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