Arhinia- choanal atresia- and microphthalmia

Synonyms

3

Overview

A very rare syndrome characterized by small eyes, choanal atresia (blocked nasal passages) and arhinia (absence of nose and parts of the olefactory system)

Symptoms

  • Blocked nasal passages
  • Small eyes
  • Widely spaced eyes
  • Absent nose
  • Inability to smell
  • Abnormality of the sense of smell
  • Absent nares
  • Aplasia/Hypoplasia affecting the eye
  • Aplasia/Hypoplasia involving the nose
  • Cataract
  • Hernia of the abdominal wall
  • Hypoplasia of penis
  • Malar flattening

Resources

  • NIH