Axenfeld-Rieger syndrome
Findings
No curated finding names Axenfeld-Rieger syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.
Definition from the Mondo Disease Ontology (MONDO:0019187), read 2026-09-29. CC BY 4.0.
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal anterior chamber morphologyHPOHP:0000593
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the irisHPOHP:0008053
- Very frequent (80% to 99% of cases)
- Posterior embryotoxonHPOHP:0000627
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Frequent (30% to 79% of cases)
- GlaucomaHPOHP:0000501
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- Midface retrusionHPOHP:0011800
- Frequent (30% to 79% of cases)
- Abnormality of the hypothalamus-pituitary axisHPOHP:0000864
- Occasional (5% to 29% of cases)
- Anal stenosisHPOHP:0002025
- Occasional (5% to 29% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Occasional (5% to 29% of cases)
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
Show the remaining 9
- HypertelorismHPOHP:0000316
- Occasional (5% to 29% of cases)
- HypodontiaHPOHP:0000668
- Occasional (5% to 29% of cases)
- Hypoplasia of the maxillaHPOHP:0000327
- Occasional (5% to 29% of cases)
- HypospadiasHPOHP:0000047
- Occasional (5% to 29% of cases)
- MicrodontiaHPOHP:0000691
- Occasional (5% to 29% of cases)
- Prominent foreheadHPOHP:0011220
- Occasional (5% to 29% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
4 names
Resolves to: Axenfeld-Rieger syndrome
- Also called
- ARSAxenfeld syndromeAxenfeldt-Rieger syndromeRieger syndrome