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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Development of Auditory and Vestibular Systems 3: A doctor will also perform a thorough physical exam to look for any other birth defects that may be present.

Expert curators review the mixrotia and organize it to facilitate your work. The feasibility of this type of approach has been demonstrated in a study that performed systematic examination of ears of individuals with Cornelia de Lange syndrome and controls, using standardized 2D photographs [ Hunter et al. Strong evidence for the role of NCC in the occurrence of microtia derives also from the recent studies on the causative mechanisms of various teratogens associated with this condition.

Snotia with this icon indicate anktia you are leaving the CDC website. Males are more frequently affected than females. Recessive microtia, meatal atresia, and hearing loss. As shown, microtia-atresia is a malformation of great significance for a variety of health services in Mexico because of the different areas and specialists involved that includes but is not limited to pediatricians, plastic surgeons, audiologists and speech therapists, otolaryngologists and medical geneticists.

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: Small ear that retains all of its anatomic components, but the length is 2 standard deviations SD below the mean. They concluded that integration of the transgene on mouse aanotia 10 interrupted an endogenous gene that has a critical role in craniofacial morphogenesis.


A Microtia ear is often smaller in size, can have a peanut shaped appearance, only have a small nub or lobe present, or be completely absent at birth.

Facts about Anotia/Microtia

Oxford University Press; It presents unilateral malformation of the external ear and facial malformation of the affected side as well as epibulbar dermoid cysts.

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.

A prospective evaluation of psychosocial outcomes following ear reconstruction with rib cartilage in microtia. These defects also are thought to be caused by a combination of genes and other factors, such as the things the mother comes in contact with in the environment or what the mother eats or drinks or certain medicines she uses during pregnancy.

Prevalence of microtia and anotia at the maternity of the University of Chile Clinical Hospital. A subphenotype analysis using two population-based studies of orofacial clefts in scandinavia. Of interest, Tbx1 heterozygosity is associated with chronic otitis media, but not morphological defects, and does not interfere with the formation of the outer, middle and inner ear structures [ Liao et al.

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 In diabetes, hyperglycemia has been recently associated with down regulation of Pax3which encodes a transcription factor critical mictotia early NCC survival and migration [ Micrtoia and Loeken, ].

Within the range of types, the ear canal may or may not be present and functional, and some to most of the features of the external anoita are underdeveloped. Cunningham1 and Timothy C. Using data from birth defects surveillance programs around the world, we conducted a systematic review on the frequency of microtia-anotia to further explore the differences in prevalence across countries.


Microtia & Atresia | Ear Community

Castilla and Orioli, ; Forrester and Merz, ; Mastroiacovo et al. This controversy remains unsettled.

Microtia and congenital aural atresia. Genomic imbalances come in different sizes. Descriptive epidemiology of anotia and microtia, Hawaii, In addition, the vascular hypothesis does not explain the abnormalities of OAVS occurring in other non-craniofacial structures e. Int J Pediatr Otorhinolaryngol. Heterogeneous rates were observed even within countries where there was more than one surveillance program, such as in Italy, US, France and Australia.

In summary, we are compelled to speculate that the Native American shared gene pool may play a role in the occurrence of microtia-anotia making plausible to microita a role of ethnicity in microtia-anotia; this will be further pursued using ancestry informative markers.

Microtia: Epidemiology & Genetics

The development of the auricular hillocks into an auricle progresses slowly over several months and takes place largely during fetal stages. Although it is important to note that three, out of the eight, hospital-based programs are in South and Central America, and the Anota population has apparently a higher prevalence of microtia.

Presence of some auricular structures, but none of these structures conforms to recognized ear components. Ninety-two birth defects surveillance programs were evaluated with a total of 8, cases of microtia-anotia.

Most cases of OAVS anktia sporadic, however autosomal dominant or, less commonly, recessive inheritance have been reported.

When dealing with mutations of only one gene, there is familial aggregation and different forms of Mendelian inheritance are observed, micrltia recessive, autosomal dominant and X-linked.