Rieger syndrome
Definition
Rieger syndrome is a rare disorder characterized by absence and/or malformation of certain teeth, mild craniofacial (relating to the head and the face) abnormalities, and various eye abnormalities. The eye abnormalities, referred to as Rieger eye malformations, may be present separately or as a part of Rieger syndrome.
Description
First characterized by Herwigh Rieger, an Austrian ophthalmologist in 1935, Rieger syndrome is a dominantly inherited disease. Disease expression is highly variable, including craniofacial, ocular, and dental malformations. Symptoms may also include myotonic dystrophy (a condition characterized by delay in the ability to relax muscles), umbilical abnormalities...
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