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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 ...
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.
Widely spaced eyes, enlarged head, hearing loss, flat cheeks, and low-set ears: FGFR3: Crouzon syndrome: Widely spaced eyes, short-broad head, hearing loss, bulging eyes, beaked nose, low-set ears, strabismus, protruding chin, and short humerus and femur: FGFR2 & FGFR3: Pfeiffer syndrome
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]
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 ...
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.
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]
Low-set ears are the most common cranial dysmorphism seen in 3C syndrome, and ocular coloboma is the least common of the non-concurrent symptoms (cleft lip co-occurring with cleft palate is the least common). [5] Cranial dysplasias associated with 3C syndrome are also reflected in the brain.