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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Different signaling mjcrotia and proteins are involved in the morphogenetic process and in the differentiation of the outer ear. It is more often unilateral and on the right side.

This term includes microtia types I to IV. When dealing with mutations of only one gene, there is familial aggregation and different forms of Mendelian inheritance are observed, autosomal recessive, autosomal dominant and X-linked. Prominent ear Weerda, Hunter et al, First degree dysplasia. The outer ear is formed from six midrotia mounds coming from the tissue of the pharyngeal arches I and II.

J Obstet Gynaecol Can.

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. External ear morphology in a d anencephalic fetus. Some examples are syndromes of microdeletion or microduplication but also can be associated with complex characteristics or diseases.

However, the methodology employed by a program may be related to ascertainment. The journal receives and publishes original articles in Spanish and in English relating to paediatrics in the following areas: Such data would increase the likelihood of micrptia for larger studies and thus, advance the knowledge of the etiology of microtia.


Allograftic and alloplastic auricular reconstruction. Other familial cases with syndromic microtia have also been reported.

Hemifacial microsomia and variants: Comparison of characteristics in different populations. Exome sequencing can identify coding variants specific to each individual studied and some functional annotation can usually be ascribed to the findings.

Diseases and Conditions Identified in Children

Microtia and associated anomalies: Click here to view a larger image. Reports of higher prevalence of microtia-anotia in Navajos Aase and Tegtmeier, ; Jaffe,anoti second largest Native American tribe of Northern America and the fact that Mexicans, largest percentage of persons of Hispanic descent in the US, have a high proportion of Native ancestry in their population could indicate that Native ancestry may be confounding the association of Hispanic ethnicity and prevalence of microtia-anotia reported in US wnotia.

Prenatal exposure to misoprostol and vascular disruption defects: Who’s Online 6 visitors online now. Clinical classification InHermann Marx published the first classification system for congenital anomalies of the external ear, which is one of the most used currently.

Microtia: Epidemiology & Genetics

Birth Defects Orig Artic Ser. A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo. Hoxa1 and Hoxb1 synergize in patterning the hindbrain, cranial nerves and second pharyngeal arch. Understanding the factors that are more common among babies with a birth defect will help us learn more about the causes.

Ear Community Microtia, Atresia, and hearing loss information and support. Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: When TRPS1 acts, it represses the transcription of genes that have been implicated in multiple functions and in the proliferation of chondrocytes, important cells in the development of the external ear, as abnormal development of the cartilage is a central characteristic in microtia.


Retinoid and diabetic embryopathy have been associated with apoptosis of NCC before migration into the pharyngeal arches, and disturbance of NCC differentiation after arrival in the pharyngeal arches. The development of the antia hillocks into an auricle anohia slowly over several months and takes place largely during fetal stages.

Advances in the treatment of microtia. Nevertheless, in a preliminary analysis of the database from ECLAMC, using data from toand analyzing only isolated cases, the trend in prevalence remained the same across the countries Luquetti et al. Because the severity of microtia ranges from mild to severe, researchers have a hard time estimating how many babies in the United States are affected.

Exome sequencing techniques are limited by the fact that they do not identify functional noncoding, nor structural, mutations; however, the recent development of analysis of copy number variation data derived from exome sequencing could partially overcome this limitation.


We are determined to keep this website freely accessible. There anotiaa few published studies on microtia-anotia frequency. Small ear that retains all of its anatomic components, but the length is 2 standard deviations SD below the mean.

Neural crest cells disturbance Defects in NCC function have been associated with numerous craniofacial syndromes [ Passos-Bueno et al.