View source for Axenfeld syndrome

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{{SK}} Axenfeld-Rieger syndrome; Hagedoom syndrome

==Overview==
'''Axenfeld syndrome''' is the name commonly given to a spectrum of [[autosomal]] [[dominance (genetics)|dominant]] [[developmental disorders]]. It is so named after the German [[ophthalmologist]] Theodor Axenfeld. Although most recognized for its correlation with the onset of [[glaucoma]] in the eye, the AR malformation is itself not limited to the eye but describes a fetal anomaly of bone/tooth development as well as mental retardation.

The [[molecular genetics]] of the disease are poorly understood, and centers on two genes identified by cloning of chromosomal beakpoints from patients.

The most characteristic feature is a distinct posterior arcuate ring, known as an "embryotoxon". The iris is commonly adherent to the [[Schwalbe's line]] (posterior surface of the cornea).

The condition is heritable as an [[autosomal dominant]] trait.

==References==
* T. Axenfeld: "Embryotoxon cornea posterius", Berichte der Deutschen ophthalmologischen Gesellschaft, 1920, 42: 301.

{{Congenital malformations and deformations of eye, ear, face and neck}}
{{Eye pathology}}

[[Category:health]]
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[[pl:Zespół Axenfelda i Riegera]]
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