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Start free with EleplanAxenfeld-Rieger syndrome
ORPHA:782Malformation syndrome
Also called Axenfeld syndrome · Rieger syndrome
What it is
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.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
3Common30–79%
5Sometimes5–29%
13- Abnormality of the hypothalamus-pituitary axis
- Anal stenosis
- Depressed nasal bridge
- Growth delay
- Hypertelorism
- Hypodontia
- Hypoplasia of the maxilla
- Hypospadias
and 5 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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