Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.


Genetic and Rare Diseases Information Center (GARD)

Axenfeld-Rieger syndrome

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


Newline Maker

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

Axenfeld-Rieger syndrome is an eye disorder. People with this disorder typically have cornea defects, which is the clear cover on the front of the eye. They may have a cloudy cornea or posterior embryotoxin, which is when you can see an opague ring around the outer edge of the cornea. People with this disorder can also have issues with their iris, which is the colored part of the eye. They typically have iris stands, which is connective tissue that connects the iris with the lens. There may be issues with the pupils as well, which is the black opening in the eye. One of the pupils may be in the wrong location (corectopia), the pupils may be abnormally large or small, or there may be extra pupils (polycoria). Click here to view a diagram of the eye.[1][2][3]

About 50% of people with this syndrome develop glaucoma, which is a serious condition that increases pressure inside of the eye. This may cause vision loss or blindness. People with this syndrome can also have strabismus (cross-eye), cataracts (cloudy lens), macular degeneration (eye disorder that causes vision loss), or coloboma (a hole in a structure in the eye).[1][2][3]

Even though Axenfeld-Rieger syndrome is primarily an eye disorder, people with this syndrome can have symptoms that affect other parts of the body too. These symptoms mostly involve the teeth and facial bones. Symptoms affecting the teeth include cone-shaped teeth (peg-like incisors), missing teeth (oligodontia), small teeth (microdontia), and abnormal spacing of the teeth. Symptoms affecting the facial bones include things such as an underdeveloped jaw, a protruding lower lip, and widely-spaced eyes. Other symptoms include extra folds of skin around the belly button, heart defects, or other more rare birth defects.[1][4][2][3]
Last updated: 1/4/2016

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%
Everted lower lip vermilion 50%
Hearing impairment 50%
Malar flattening 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 -
Atria septal defect -
Autosomal dominant inheritance -
Cerebellar vermis hypoplasia -
Ectopia pupillae -
Glaucoma -
Growth hormone deficiency -
Heterogeneous -
Hypodontia -
Hypoplasia of the iris -
Hypoplasia of the maxilla -
Hypospadias -
Megalocornea -
Microcornea -
obsolete Flat midface -
Patent ductus arteriosus -
Polycoria -
Posterior embryotoxon -
Prominent supraorbital ridges -
Proptosis -
Rieger anomaly -
Sensorineural hearing impairment -
Short philtrum -
Strabismus -
Variable expressivity -
Wide nasal bridge -

Last updated: 7/1/2016

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.

  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. Irak-Dersu I. Secondary Congenital Glaucoma. Medscape. March 14, 2014; Accessed 3/30/2015.
  3. Axenfeld-Rieger syndrome. Genetics Home Reference: June 2012; Accessed 12/28/2015.
  4. 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
  • Rieger syndrome
  • Iridogoniodysgenesis with somatic anomalies
  • Goniodysgenesis hypodontia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.