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Microcephaly deafness syndrome is an extremely rare genetic disorder which consists of microcephaly, congenital hearing loss, mild intellectual disability, speech delay, low height, and facial dysmorphisms (such as low-set cup-shaped ears, protruding lower lips, micrognathia, epicanthal folds, drooping lower lip, and a rather big distance between both eyebrows).
Low-set ears are defined as the outer ears being positioned two or more standard deviations lower than the population average. [1] Clinically, if the point at which the helix (curved upper part) of the outer ear meets the cranium is at or below the line connecting the inner canthi of eyes (the bicanthal plane), the ears are considered low set ...
In Saethre–Chotzen syndrome, the ears may be low set, posteriorly rotated, have other minor anomalies and there may be a presence of a conductive hearing loss or a mixed hearing loss (Perterson-Falszone, 2001). Hearing loss in this group can also be caused by middle ear disease when a cleft palate is present. [1]
Minor physical anomalies (MPAs) are relatively minor (typically painless and, in themselves, harmless) congenital physical abnormalities consisting of features such as low-set ears, single transverse palmar crease, telecanthus, micrognathism, macrocephaly, hypotonia and furrowed tongue.
Small, low-set ears that may be rotated somewhat backwards and has a prominent (bulging) pinna [4] Beaked nose (slightly bent downward at tip) that is slightly off center and contains a deviated septum [ 2 ]
For low frequencies, it behaves similarly to a reflector dish, directing sounds toward the ear canal. For high frequencies, however, its value is thought to be more sophisticated. While some of the sounds that enter the ear travel directly to the canal, others reflect off the contours of the pinna first: these enter the ear canal after a very ...
The outer ear, external ear, or auris externa is the external part of the ear, which consists of the auricle (also pinna) and the ear canal. [1] It gathers sound energy and focuses it on the eardrum ( tympanic membrane ).
Raine syndrome (RNS), also called osteosclerotic bone dysplasia, is a rare autosomal recessive congenital disorder characterized by craniofacial anomalies including microcephaly, noticeably low set ears, osteosclerosis, a cleft palate, gum hyperplasia, a hypoplastic nose, and eye proptosis. It is considered to be a lethal disease, and usually ...