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Genetics of Microtia and Associated Syndromes
  1. Fatemeh Alasti (fatemeh.alasti{at}
  1. The University of Antwerp, Belgium
    1. Guy Van Camp (guy.vancamp{at}
    1. The University of Antwerp, Belgium


      Microtia is a congenital anomaly, characterized by a small, abnormally shaped auricle (pinna). It is usually accompanied by a narrow, blocked or absent ear canal. Microtia can occur as the only clinical abnormality or as part of a syndrome. The estimated prevalence of microtia is 0.8-4.2/10,000 births and it is more common in males. Microtia can have a genetic or environmental predisposition. Mendelian hereditary forms of microtia with an autosomal dominant or recessive mode of inheritance as well as forms due to chromosomal aberrations have been reported. Several responsible genes have been identified, most of them being homeobox genes. Mouse models have been very useful to study these genes, providing valuable information on the development of the auditory system. In this article, we review the epidemiological characteristics of microtia, and the environmental causes involved. In addition, we discuss the development of the auditory system, specifically on relevant aspects of external and middle ear development. The focus of this review is to discuss the genetic aspects of microtia and associated syndromes. The clinical aspects of different disorders involving microtia are also discussed in relation to the genes that are causing them.

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