[MIM 180 500, 601 449, 602 482]

(iridogoniodysgenesis-hypodontia, iridogonodysgenesis with somatic anomalies, Axenfeld syndrome, Axenfeld-Rieger syndrome, )

Rare: prevalence 1/200,000. Autosomal dominant transmission. Several mutations may be the cause:  RIEG1 gene on 13q 14, PITX2 gene on 4q 25,  FOX-C1 gene on 6p25, PAX6 gene on chromosome 11.

Association of:

-        ocular anomalies: hypoplasia of iris and chordae that connect the iris to the peripheral cornea, opaque ring at the periphery of the iris, off-centre pupilla, posterior embryotoxon; sometimes microcornea. Progression to glaucoma in 50% of cases.

-        hypodontia, microdontia, or partial adontia

-        craniofacial anomalies: hypertelorism, flattened base of the nose, maxillary hypoplasia (the face appears flat)

Sometimes: anal stenosis, umbilical hernia (or excess of periumbilical skin).

Rarely: hydrocephalus, cardiac anomalies, deafness.

In a few cases: association with myotonic dystrophy (Steinert's disease) (see this term)

Anesthetic implications:

eye protection, risk of glaucoma, fragile teeth

References : 

-        Cok OY, Ozkose Z, Atabekoglu S, Yardim S.
Intravenous patient-controlled analgesia using remifentanil in a child with Axenfeld-Rieger syndrome.
Pediatr Anesth 2005; 15: 162-6.

Updated: August 2016