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Microtia is a congenital deformity where the auricle (external ear) is underdeveloped. A completely undeveloped auricle is referred to as anotia . Because microtia and anotia have the same origin, it can be referred to as microtia-anotia . [ 1 ]
Individuals with Treacher Collins syndrome often have both cleft palate and hearing loss, in addition to other disabilities. Hearing loss is often secondary to absent, small or unusually formed ears ( microtia ) and commonly results from malformations of the middle ear .
The congenital defect microtia, deformed or unformed outer ear, can be associated with partial or complete conductive deafness, depending upon the severity of the deformity and whether the middle ear is also affected. It can also be associated with abnormalities of the inner ear giving rise to an additional sensorineural component to the ...
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Microtia is a congenital deformity where the auricle (external ear) is underdeveloped. A completely undeveloped pinna is referred to as anotia. Because microtia and anotia have the same origin, it can be referred to as microtia-anotia. [16] Microtia can be unilateral (one side only) or bilateral (affecting both sides).
Johnson–McMillin syndrome, also known as Johnson neuroectodermal syndrome, is a neuroectodermal syndrome characterized by conductive hearing loss and alopecia, microtia, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism. [2] [3]
This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information.
Syndromic microphthalmia is a class of rare congenital anomalies characterized by microphthalmia along with other non-ocular malformations. [2] Syndromic microphthalmia accounts for 60 to 80% of all cases of microphthalmia. [2]