Aniridia renal agenesis psychomotor retardation

Synonyms

4

Overview

A rare genetic disorder characterized by missing irises of the eye, kidney developmental problems and mental retardation.

Symptoms

  • Underdeveloped kidneys
  • Anteverted nostrils
  • Absent iris
  • Depressed nasal bridge
  • Down turned corners of mouth
  • Glaucoma
  • Mental retardation
  • Short stature
  • Squint
  • Telecanthus
  • Premature closure of a skull bone
  • Communicating hydrocephaly
  • Corneal clouding
  • Frontal bossing
  • Corneal opacity
  • Hypotonia
  • Small jaw
  • Recessed jaw
  • Cognitive impairment
  • Craniosynostosis
  • Renal hypoplasia/aplasia
  • Strabismus

Resources

  • NIH