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References OMIM Gene GeneReviews HGMD HGNC
last update : 16-06-2021
Symbol MCROT1
Location 7p15.2
Name microtia-anotia 1
Corresponding gene HOXA2
Main clinical features
  • congenital deformity manifesting as an abnormally shaped or absent external ear, with a small, abnormally shaped outer ear
  • lobule, helix, and anti-helix, are present in grade I, the external ear is smaller than normal
  • in grade II, the normal features of the external ear are absent ; a lobule, a helix, and an anti-helix are present, but they are small and not well formed
  • in grade III, the external ear consists of a vertical skin appendage with a malformed lower end of the ear lobe
  • no external ear or auditory canal is called anotia, or microtia grade IV
  • Genetic determination autosomal recessive
    autosomal dominant
    Prevalence 1/9000 births
    Function/system disorder
    Type disease