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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 ...
Symptoms: Broad hands and feet, wide set eyes, low set ears, drooping lower lip [1] Causes: Genetic (X-linked recessive) [1] Deaths: 2018: two deaths, one patient aged 66 years, another aged 62 (also diagnosed with Non-Hodgkin lymphoma). 2019: one death, aged 54. All males from the same family. Named after
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.
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.
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.
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 ...
They all had long and uneven facial features, low-set hairlines, short fingers, and webbing between the second and third fingers and between the second, third, and fourth toes. A year later in 1932, F. Chotzen, a German psychiatrist , described a father and his two sons as having very similar characteristics as the mother and her daughters, as ...
The superior semicircular canal dehiscence syndrome (SSCDS) is a set of hearing and balance symptoms that a rare disease/disorder of the inner ear's superior semicircular canal/duct induces. [ 3 ] [ 4 ] [ 5 ] The symptoms are caused by a thinning or complete absence of the part of the temporal bone overlying the superior semicircular canal of ...