- Rieger syndrome
- Iridogoniodysgenesis with somatic anomalies
- Goniodysgenesis hypodontia
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).
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.
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.
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.
- 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;
- Irak-Dersu I. Secondary Congenital Glaucoma. Medscape. March 14, 2014; http://www.emedicine.com/oph/topic141.htm. Accessed 3/30/2015.
- Axenfeld-Rieger syndrome. Genetics Home Reference: June 2012; http://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome. Accessed 12/28/2015.
- 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..