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CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder.First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, restricted growth or development, genital or urinary abnormalities, and ear abnormalities and deafness. [1]
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] Microtia can be unilateral (one side only) or bilateral (affecting both sides).
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). Microtia occurs in 1 out of about 8,000–10,000 births. In unilateral microtia, the right ear is most commonly affected.
A conductive hearing loss along with middle ear disease is most commonly seen in patients with Pfeiffer syndrome; although, there have been reports of mixed hearing loss as well. The hearing loss is most typically caused by stenosis or atresia of the auditory canal, middle ear hypoplasia and ossicular hypoplasia (Vallino-Napoli, 1996).
Ear abnormalities are common, including small holes in the skin just in front of the ears (preauricular pits, or sinuses). The external auricle of the ear is typically malformed, with possibly severe microtia with atresia of the external auditory canal present. Deafness may occur, but severe hearing loss is uncommon; the occurrence of mild ...
Child displaying typical facial phenotype of Kabuki syndrome. Specific symptoms for Kabuki syndrome vary, with large differences between affected individuals. [3] Most people with Kabuki syndrome have distinctive facial features that include arched eyebrows, long eyelashes, elongated eyelids with lower lids that turn out, prominent ears, a flat tip of the nose and a downward slant to the mouth.
A mysterious illness, which the Africa Centers for Disease Control and Prevention is calling "disease X," has killed at least 31 people — mostly children — in the remote Panzi region of the ...
An example is hemifacial microsomia, which primarily affects development of the ear, mouth, and mandible. This anomaly may occur bilaterally. Another disease which belongs to this spectrum is Goldenhar syndrome, which includes vertebral abnormalities, epibulbar dermoids and facial deformities. [33]