A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Microtia-Anotia. In this paper, the term “microtia” includes anotia as the most severe end .. Several cases reports of mosaicism 46,X,der(Y)t(Y;1)(q12;q21)/ Microtia-anotia is a spectrum of congenital anomalies of the auricle ranging from mild [PubMed]; Okajima H, Takeichi Y, Umeda K, et al.

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In such cases the genetic effects seem to be rare and therefore they could potentially represent sporadic variants. 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. The median value was 0. Arterial oxygen saturation in Tibetan and Han infants born in Lhasa, Tibet. Hermann Marx published the first system, named the Marx classification, in and it remains one of the most frequently used systems [ Marx, ].

Am J Med Genet A. The authors proposed that this difference was related to the high altitude. High-altitude ancestry protects against hypoxia-associated reductions microtiw fetal growth. Am J Med Genet A. Discussion In this study, we conducted a systematic review of the data on the prevalence of microtia-anotia. Prevalence rates of microtia in South America. For these reasons, in these cases the coordinated efforts of pediatricians, geneticists, plastic surgeons, audiologists, ear-nose-throat specialists ENTsophthalmologists and psychologists, among other specialists is required.

Such data would increase the likelihood of success for larger studies and thus, advance the knowledge of the etiology of microtia. The eye-ear-vertebral spectrum OMIM a has a variability of expression that includes the hemifacial microsomy and Goldenhar Syndrome up to the facio-auriclevertebral sequence. In patients with microtia, in addition to the main genes and their regulators, syndromic cases are commonly associated with changes in the copy number such as duplications or deletions, which is found in virtually every human chromosome Table 2 suggesting that the basic microtai is in a kicrotia of anotla.

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Microtia & Atresia | Ear Community

Some regions had microti initial native population density e. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers micritia personal questions. Forrester and Merz, Augmented uterine artery blood flow and oxygen delivery protect Andeans from altitude-associated reductions in fetal growth.

When it is syndromic, generally it is part of a specific pattern of multiple congenital malformations and the complete entity can be associated with the following factors: Exome sequencing offers promise as a technique to study microtia, particularly in isolated cases from ethnic groups that apparently have a lower risk for microtia.

Understanding the factors that are more common among babies with a birth defect will help us learn more about the causes. Gupta A, Patton MA. Among the genes associated with this syndrome, the GSC gene has been studied and no mutations have been found.

An important confounder, however, is that altitude may constrain agricultural production and thus increase costs of transporting fresh food products.

Support Center Support Center. Velocardiofacial syndrome OMIM a associated with 22q However, even in the higher prevalence regions, and considering the clinical heterogeneity of this condition, the collection of cases requires many years to accomplish a sample size necessary to study this condition.


Another possibility is a truly high prevalence of anotia in those areas. Photographs of individuals with different types of microtia compose of 10 photos. Identification of a primary target of thalidomide teratogenicity.

Table I Prevalence per 10, of microtia reported in the literature from Cunningham1 and Timothy C. Prevalence Population studies in some European countries and in the U.

Facts about Anotia/Microtia

Eur J Med Genet. The endothelin pathway has a well-established role in regulating mlcrotia crest proliferation and migration, and therefore it is plausible that mutations in this pathway could be involved in microtia in humans. SIX genes are homologs of sine oculis six gene in the vinegar fly, Drosophila melanogaster.

Relations and interactions between cranial mesoderm and neural crest populations.

Facts about Anotia/Microtia | CDC

In three of the main pediatric hospitals in Mexico, microtia is among the most microhia causes of attendance in the Genetics Department. Combining their data with 37 twin pairs with microtia reported in the literature, the 72 sets of twins showed significant differences in the concordance rate for monozygotic Programs with active ascertainment presented higher prevalence; which was not surprising as this methodological characteristic is usually related to better validity of data.

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