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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Axenfeld-Rieger syndrome


Other Names for this Disease

  • Goniodysgenesis hypodontia
  • Iridogoniodysgenesis with somatic anomalies
  • Rieger syndrome
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Symptoms

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What are the signs and symptoms of Axenfeld-Rieger syndrome?

Eye symptoms of Axenfeld-Rieger syndrome include posterior embryotoxon, cloudy cornea, iris strands, abnormal location of the pupil, abnormal pupil margins, abnormally large or small pupils, multiple pupils, glaucoma, strabismus, cataract, macular degeneration, and coloboma.[1][2]

Developmental defects associated with Axenfeld-Rieger syndrome most commonly involve the teeth and facial bones. Symptoms involving the teeth include peg-like incisors, missing teeth, and abnormal spacing of teeth. Symptoms of the facial bones include underdevelopment of the upper jaw and protruding lower lip. Another common developmental defect is umbilical protrusion. Cases of wide spaced eyes and empty-sella syndrome have also been reported.[1][3][2]
Last updated: 4/11/2011

References
  1. JD Brandt. Congenital glaucoma. In: M Yanoff, JS Duker, JJ Augsburger, DT Azar, GR Diamond, JJ Dutton, D Miller, NA Rao, ES Rosen, AA Sadun, M Sherwood, J Sugar, JL Wiggs. Yanoff: Ophthalmology, 2nd ed.. St. Louis, MO: Mosby, Inc; 2004;
  2. Inci Irak-Dersu. Glaucoma, Secondary Congenital. eMedicine. 2010; http://www.emedicine.com/oph/topic141.htm. Accessed 4/11/2011.
  3. Traboulsi EI. Malformations of the anterior segment of the eye. In: Traboulsi EI, ed. Genetic Diseases of the Eye. New York, NY. Oxford Publishing Press, Inc.; 1998:81-88..


Other Names for this Disease
  • Goniodysgenesis hypodontia
  • Iridogoniodysgenesis with somatic anomalies
  • Rieger syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.