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Bilateral microtia-deafness-cleft palate syndrome

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • Q87.0
MeSH -
MedDRA -


Disease definition

This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.


It has been described in four individuals from a consanguineous Iranian family.


The syndrome is caused by point mutations in the HOXA2 gene, a gene that has already been shown to be involved in development of the auditory system in mice.

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