GTR Home > Conditions/Phenotypes > Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities

Clinical features

  • Strabismus
  • Coxa valga
  • Short stature
  • Abnormal auditory evoked potentials
  • Agenesis of corpus callosum
  • Intellectual disability
  • Large sella turcica
  • Flat face
  • Telecanthus
  • Malar flattening
  • Abnormally prominent line of Schwalbe
  • Proptosis
  • Macrocephaly
  • Brachycephaly
  • Hypertelorism
  • Hypoplasia of the maxilla
  • Sensorineural hearing impairment
  • Rieger anomaly
  • Abnormality of the vertebral column
  • Muscular hypotonia
  • Ventriculomegaly
  • Hip dislocation
  • Absent extraocular muscles
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