Axenfeld-Rieger syndrome
MeSH: C535679ORPHA: 782
Overview
autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Axenfeld-Rieger syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal anterior chamber morphologyPosterior embryotoxonAplasia/Hypoplasia of the irisEverted lower lip vermilionHearing impairmentGlaucomaMidface retrusionAbnormal cardiovascular system morphologyHypospadiasHypertelorismHypoplasia of the maxillaWide nasal bridgeTelecanthusHypodontiaMicrodontiaAbnormality of the hypothalamus-pituitary axisGrowth delayRedundant skinAnal stenosisDepressed nasal bridgeProminent forehead
Classification & Codes
MeSH Code
C535679Orphanet Code
ORPHA:782Axenfeld-Rieger syndrome
| MeSH | C535679 |
| Orphanet | ORPHA:782 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO