Axenfeld-Rieger syndrome type 2

info · Eye · ICD-10: Q13.8

An Axenfeld-Rieger syndrome characterized by bnormal development of the anterior segment of the eye, which results in blindness from glaucoma in approximately 50% of affected individuals that has_material_basis_in deletions in the region 13q14.

Signs and symptoms

Anal stenosis
Opacification of the corneal stroma
Hearing impairment
Wide nasal bridge
Inguinal hernia
Everted lower lip vermilion
Microcornea
Microdontia
Telecanthus
Blindness

Also known as: RIEG2; Rieger syndrome type 2