Autosomal dominant malformative disease.
Types
Rieger syndrome type 1 (RIEG1)
Rieger syndrome type 2 (RIEG2)
Synopsis
maxillary hypoplasia
short philtrum
prominent supraorbital ridges
iris dysplasia (goniodysgenesis)
iris hypoplasia
prominent Schwalbe line (posterior embryotoxon)
glaucoma
displaced pupils
dyscoria
polycoria
aniridia
microcornea
megalocornea
strabismus
broad nasal bridge
mouth
thin upper lip
hypodontia (maxillary incisors)
umbilical defect (redundant periumbilical skin)
Imperforate anus
anal stenosis
hypospadias
growth hormone deficiency
variable expressivity
Etiology
germline mutations in the gene PITX2 coding for paired-like homeodomain transcription factor-2