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Bilateral microtia - deafness - cleft palate

Orpha number ORPHA140963
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.0
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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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