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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 ...
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.
The development of the ears and auditory system may be affected in people with Noonan's syndrome. This can result in low-set ears (in over 90%), backward-rotated ears (over 90%), thick helix (outer rim) of ear (over 90%), incomplete folding of ears, chronic otitis media (ear infections), and hearing loss.
These features may include microcephaly (small head), which may be combined with brachycephaly (short head); small, deep-set eyes; straight eyebrows; epicanthal folds; a broad, flat nose and nasal bridge; underdevelopment of the midface (midface hypoplasia); a long philtrum; pointed chin; and abnormally shaped, rotated, low-set ears. [4]
[3] [4] Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. [1] About a third of those affected have features of autism such as problems with social interactions and delayed speech. [1] Hyperactivity is common, and seizures occur in about 10%. [1] Males are usually more affected than females. [1]
The first case was reported in 1989 by Wiedemann and colleagues which reported a Caucasian boy with pre- and postnatal growth deficiency, psychomotor delay, and a round and flat face, short nose, widely spaced eyes, long philtrum, short palpebral fissures, low-set ears, and high-arched palate.
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).
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]