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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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

The Human Phenotype Ontology provides the following list of signs and symptoms for Axenfeld-Rieger syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the anterior chamber 90%
Aplasia/Hypoplasia of the iris 90%
Posterior embryotoxon 90%
Glaucoma 50%
Hearing impairment 50%
Malar flattening 50%
Malformation of the heart and great vessels 50%
Abnormality of the hypothalamus-pituitary axis 7.5%
Cutis laxa 7.5%
Depressed nasal bridge 7.5%
Displacement of the external urethral meatus 7.5%
Frontal bossing 7.5%
Hypertelorism 7.5%
Microdontia 7.5%
Reduced number of teeth 7.5%
Telecanthus 7.5%
Urogenital fistula 7.5%
Abnormality of the abdominal wall -
Abnormally prominent line of Schwalbe -
Anal atresia -
Anal stenosis -
Aniridia -
Autosomal dominant inheritance -
Autosomal dominant inheritance -
Cerebellar vermis hypoplasia -
Concave nasal ridge -
Defect in the atrial septum -
Ectopia pupillae -
Glaucoma -
Glaucoma -
Growth hormone deficiency -
Heterogeneous -
Hypertelorism -
Hypodontia -
Hypodontia -
Hypoplasia of the iris -
Hypoplasia of the iris -
Hypoplasia of the maxilla -
Hypospadias -
Malar flattening -
Megalocornea -
Microcornea -
Microdontia -
Patent ductus arteriosus -
Polycoria -
Posterior embryotoxon -
Posterior embryotoxon -
Prominent supraorbital ridges -
Proptosis -
Rieger anomaly -
Short philtrum -
Strabismus -
Variable expressivity -
Wide nasal bridge -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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.