Microtia: Epidemiology and Genetics

Daniela V Luquetti, Carrie L Heike, Anne V Hing, Michael L Cunningham, Timothy Chilton Cox

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120 Citations (Scopus)


Microtia is a congenital anomaly of the ear that ranges in severity from mild structural abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as part of a spectrum of anomalies or a syndrome. Microtia is often associated with hearing loss and patients typically require treatment for hearing impairment and surgical ear reconstruction. The reported prevalence varies among regions, from 0.83 to 17.4 per 10,000 births, and the prevalence is considered to be higher in Hispanics, Asians, Native Americans, and Andeans. The etiology of microtia and the cause of this wide variability in prevalence are poorly understood. Strong evidence supports the role of environmental and genetic causes for microtia. Although some studies have identified candidate genetic variants for microtia, no causal genetic mutation has been confirmed. The application of novel strategies in developmental biology and genetics has facilitated elucidation of mechanisms controlling craniofacial development. In this paper we review current knowledge of the epidemiology and genetics of microtia, including potential candidate genes supported by evidence from human syndromes and animal models. We also discuss the possible etiopathogenesis in light of the hypotheses formulated to date: Neural crest cells disturbance, vascular disruption, and altitude.
Original languageEnglish
Pages (from-to)124 - 139
Number of pages16
JournalAmerican Journal of Medical Genetics Part A
Issue number1
Publication statusPublished - 2012
Externally publishedYes

Cite this

Luquetti, D. V., Heike, C. L., Hing, A. V., Cunningham, M. L., & Cox, T. C. (2012). Microtia: Epidemiology and Genetics. American Journal of Medical Genetics Part A, 158A(1), 124 - 139. https://doi.org/10.1002/ajmg.a.34352