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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Surgery is usually performed between 4 and 10 years of age. Se continuar a navegar, consideramos que aceita o seu uso. To date, all genes that play a role in these syndromes have not been identified; however, there is evidence that some are involved in the morphogenetic processes of development of the ear Table 1.

Other target genes of miRc are OSR1 Odd-skipped related 1 gene related with the development of intermediate mesoderm and branchial arches during embryogenesis and GLI3 associated with the Pallister-Hall syndrome with microtia.

Microtia-Anotia: A Global Review of Prevalence Rates

Other Six mutants have not been reported to have ear abnormalities. In conjunction with well designed clinical research, continued application of novel technologies and models is essential naotia fully understand the pathogenesis of isolated microtia and the exact role that individual genes play in kicrotia development of g external ear.

The British Pediatric Association modified this system to a five-digit code A concerted effort assessing the large repositories of spontaneous, chemically-induced and u targeted mouse lines such as the Jackson Laboratories http: The HOXA2 gene, especially directly related with microtia, 46 is a transcription factor that acts as a gene selector that will express in the morphogenesis of the neural crest and in the second branchial arch, structures that give rise to the formation of the ear.

Birth Defects Orig Artic Ser. CNV could influence micdotia expression by interrupting genes or altering the gene dose. Mexico has a prevalence of microtia of 7. The endothelin pathway has a well-established role in regulating neural crest proliferation and migration, and therefore it is plausible that mutations in this pathway could be involved in microtia in humans.

We used data from three sources: Castilla and Orioli, ; Harris et al. It is also important to decrease the risks of frequent infections or exposure to ear toxins caused by some antibiotics that can cause hearing damage that would have been preserved. Table II Human disorders with microtia except Chromosomopathies. In tertiary-level care hospitals, this malformation is found among the first reasons for outpatient consults.


There is no agreement about minimal diagnostic criteria for OAVS.

Microtia: Epidemiology & Genetics

For instance, M-A is an essential component of isotretinoin embryopathyis an important manifestation of thalidomide embryopathy, and can be part of the prenatal alcohol syndrome and maternal diabetes embryopathy. Constricted cup and lop ear. This study provides a global assessment of prevalence of microtia-anotia, as observed in 92 surveillance programs in Europe, mcrotia Americas, in addition to United Arab Emirates, China, Japan, and Australia.

This classification is used by the different specialists who provide care to patients as part of the clinical approach of microtia. In this section, we discuss in further detail some of the most promising models.

The mechanisms responsible for the ancestry-associated differences are unclear but could provide important insight into the genetic contributions to microtia. SIX function seems conserved across evolution since knock-down of Six1 in frogs, chicks, and mice result in craniofacial abnormalities [ Brugmann et al. As we already mentioned, the prevalence could not be analyzed by type of microtia, because currently few surveillance programs have coding systems that specifies different types of microtia-anotia.

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 defect is in a pathway of organogenesis.

Due to the relevance that the frequency of microtia atresia has in different health services in Mexico, it is important that all medical professionals are aware of its clinical, molecular and inherited characteristics.

The left pinna was normal in both. See other articles in PMC that cite the published article. Grades of Microtia and Atresia courtesy of Dr. The syndromes mentioned are not the only ones in which microtia-atresia has been reported in a high percentage of the cases.

Am J Med Genet. It presents unilateral malformation of the external ear and facial malformation of the affected side as well as epibulbar dermoid cysts. 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 Heike1 Anne V.


Accordingly, the etiology of microtia-atresia has been related with entities that have an autosomal dominant, autosomal recessive, multifactorial pattern of inheritance as well as alterations in the number of copies of potential genes involved, as suggested by its presence in trisomies 13, 18 and 21, and other unbalanced chromosomal alterations for example, in the partial deletions of 5p, 18p, 18q and 22q I, Melissa … [Read More The outer ear begins its development during the fifth week, and the hillocks are first identifiable during the sixth week of embryogenesis.

Mexico has a prevalence of microtia of 7. Other target genes of miRc are OSR1 Odd-skipped related 1 gene related with the development of intermediate mesoderm and branchial arches during embryogenesis and GLI3 associated with the Pallister-Hall syndrome with microtia.

The application of novel strategies analytical, genetic, imaging, etc in developmental biology and genetics has begun to facilitate elucidation of mechanisms controlling craniofacial development in animal models.

The birth prevalence mcrotia vary greatly among countries ranging from 0. However, limitation in phenotypic details from most surveillance programs made such further splitting not feasible. Bol Med Hosp Infant Mex. The overall prevalence were for microtia-anotia 2.

Most cases of OAVS are sporadic, however autosomal dominant or, less commonly, recessive inheritance have been reported. Microtia with meatal atresia and conductive deafness: Among the most common clinical entities in which microtia-atresia may be present as part of the pleiotropic effect of the syndromes are considered the eye-ear-vertebral spectrum, Treacher-Collins mirotia, velocardiofacial syndrome associated with deletion of 22q However, the methodology employed by a program may be related to ascertainment.

Ipsilateral microtia in monozygotic twins: However, we must insist that this is dependent on the case.