Hearing loss with craniofacial syndromes
Encyclopedia
Hearing loss with craniofacial syndromes is a common occurrence. Many of these multianomaly disorders involve structural malformations of the outer
or middle ear
, making a significant hearing loss highly likely.
), and commonly results from malformations of the middle ear
. Researchers have found that most patients with Treacher Collins syndrome have symmetric external ear canal abnormalities and symmetrically dysmorphic or absent ossicles
in the middle ear
space. Inner ear
structure is largely normal. Most patients show a moderate hearing impairment
or greater, and the type of loss is generally a conductive hearing loss
. Patients with Treacher Collins syndrome exhibit hearing losses similar to those of patients with malformed or missing ossicles (Pron et al., 1993).
, indicating that the source of the deficit lies in the inner ear
, the vestibulocochlear nerve
, or the processing centers of the brain. Szymko-Bennett et al. (2001) found that the overall hearing loss in Type I Stickler Syndrome is generally mild and is not significantly progressive. Hearing loss is more common in the higher frequencies, from about 4000-8000 Hz (Szymko-Bennett et al., 2001). This mildly progressive sensorineural loss, or more significant losses (associated with Types II and III Stickler syndrome) is present in about 80% of patients with Stickler syndrome. However, other patients are also susceptible to conductive losses, similar to nonsyndromic cleft patients (Peterson-Falzone et al., 2001).
have a high occurrence of middle ear disease, otitis media
and conductive hearing loss
(Perterson-Fazone et al., 2001). Conductive hearing loss is frequently seen in this population due to almost constant middle ear disease (Gould et al., 1982).
caused by middle ear effusion (or fluid in the middle ear) and perforation to ossicular fixation (ossicles
), intratympanic bony masses (tympanic membrane), ossicular anomalies, and closure of the oval window
. Patients with a sensorineural hearing loss
have also been reported, but are less likely to occur.
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).
has been reported by many with ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome in association with a cleft palate (Perterson-Falzone, 2001).
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 (http://www.worldcf.org/chotzen.cfm).
because of the presence of a cleft
or other form of velopharyngeal inadequacy
. The hearing loss associated with VCFS is conductive when otitis media
is present (Peterson-Falzone et al., 2001). There are also sporadic reports of sensorineural hearing loss
and a mixed hearing loss. Of individuals with VCFS who have a hearing loss, only 11% had a sensorineural loss and 5% a mixed loss (Reyes et al., 1999).
can be present, typically ranging from mild to severe. There are also reported cases of cochlear
involvement and sensorineural hearing loss
. Rahbar et al. (2001) found that 86% of patients with Hemifacial Microsomia have a conductive hearing loss and 10% have a sensorineural hearing loss. There is no correlation between the severity of dysmorphic features and the degree of hearing loss, meaning individuals with mild malformations can have severely impaired hearing.
. These malformations were found in 80% of individuals with Nager syndrome. Inner ear malformations, however, are not typically seen in this population. Middle ear disease is common among individuals with Nager syndrome. Chronic otitis media
and Eustachian tube
deformity can result in conductive hearing loss
. For this reason, early detection and treatment for middle ear disease is crucial in this population. Sensorineural hearing loss is not a typical characteristic of Nager syndrome; however, a subset of individuals present with a mixed hearing loss, due to a progressive sensorineural component combined with the typical conductive hearing loss (Herrman et al., 2005).
Outer ear
The outer ear is the external portion of the ear, which consists of the pinna, concha, and external auditory meatus. It gathers sound energy and focuses it on the eardrum . One consequence of the configuration of the external ear is to selectively boost the sound pressure 30- to 100-fold for...
or middle ear
Middle ear
The middle ear is the portion of the ear internal to the eardrum, and external to the oval window of the cochlea. The mammalian middle ear contains three ossicles, which couple vibration of the eardrum into waves in the fluid and membranes of the inner ear. The hollow space of the middle ear has...
, making a significant hearing loss highly likely.
Treacher Collins syndrome
Individuals with Treacher Collins syndrome often have both cleft palate and hearing loss, in addition to other disabilities. Hearing loss is often secondary to absent, small, or unusually formed ears (microtiaMicrotia
Microtia, also called microtia-anotia, is a congenital deformity where the pinna is very small and underdeveloped or absent . It can be unilateral or bilateral . It occurs in 1 out of about 8,000–10,000 births. In unilateral microtia, the right ear is most commonly affected...
), and commonly results from malformations of the middle ear
Middle ear
The middle ear is the portion of the ear internal to the eardrum, and external to the oval window of the cochlea. The mammalian middle ear contains three ossicles, which couple vibration of the eardrum into waves in the fluid and membranes of the inner ear. The hollow space of the middle ear has...
. Researchers have found that most patients with Treacher Collins syndrome have symmetric external ear canal abnormalities and symmetrically dysmorphic or absent ossicles
Ossicles
The ossicles are the three smallest bones in the human body. They are contained within the middle ear space and serve to transmit sounds from the air to the fluid-filled labyrinth . The absence of the auditory ossicles would constitute a moderate-to-severe hearing loss...
in the middle ear
Middle ear
The middle ear is the portion of the ear internal to the eardrum, and external to the oval window of the cochlea. The mammalian middle ear contains three ossicles, which couple vibration of the eardrum into waves in the fluid and membranes of the inner ear. The hollow space of the middle ear has...
space. Inner ear
Inner ear
The inner ear is the innermost part of the vertebrate ear. In mammals, it consists of the bony labyrinth, a hollow cavity in the temporal bone of the skull with a system of passages comprising two main functional parts:...
structure is largely normal. Most patients show a moderate hearing impairment
Hearing impairment
-Definition:Deafness is the inability for the ear to interpret certain or all frequencies of sound.-Environmental Situations:Deafness can be caused by environmental situations such as noise, trauma, or other ear defections...
or greater, and the type of loss is generally a conductive hearing loss
Conductive hearing loss
Conductive hearing loss occurs when there is a problem conducting sound waves anywhere along the route through the outer ear, tympanic membrane , or middle ear ....
. Patients with Treacher Collins syndrome exhibit hearing losses similar to those of patients with malformed or missing ossicles (Pron et al., 1993).
Pierre Robin sequence
Persons with Pierre Robin sequence (PRS) are at greater risk for hearing impairment than persons with cleft lip and/or palate without PRS. One study showed an average of 83% hearing loss in PRS, compared to 60% in cleft individuals without PRS (Handzic et al., 1995). Similarly, PRS individuals typically exhibit conductive, bilateral hearing losses that are greater in degree than in cleft individuals without PRS. Middle ear effusion is generally apparent, with no middle ear or inner ear malformations. Accordingly, management by ear tubes (myringotomy tubes) is often effective and may restore normal levels of hearing (Handzic et al., 1995).Stickler syndrome
The hearing loss most typical in patients with Stickler syndrome is a sensorineural hearing lossSensorineural hearing loss
Sensorineural hearing loss is a type of hearing loss in which the root cause lies in the vestibulocochlear nerve , the inner ear, or central processing centers of the brain....
, indicating that the source of the deficit lies in the inner ear
Inner ear
The inner ear is the innermost part of the vertebrate ear. In mammals, it consists of the bony labyrinth, a hollow cavity in the temporal bone of the skull with a system of passages comprising two main functional parts:...
, the vestibulocochlear nerve
Vestibulocochlear nerve
The vestibulocochlear nerve is the eighth of twelve cranial nerves, and is responsible for transmitting sound and equilibrium information from the inner ear to the brain...
, or the processing centers of the brain. Szymko-Bennett et al. (2001) found that the overall hearing loss in Type I Stickler Syndrome is generally mild and is not significantly progressive. Hearing loss is more common in the higher frequencies, from about 4000-8000 Hz (Szymko-Bennett et al., 2001). This mildly progressive sensorineural loss, or more significant losses (associated with Types II and III Stickler syndrome) is present in about 80% of patients with Stickler syndrome. However, other patients are also susceptible to conductive losses, similar to nonsyndromic cleft patients (Peterson-Falzone et al., 2001).
Apert Syndrome
Patients with Apert syndromeApert syndrome
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial arch, the precursor of the maxilla and mandible...
have a high occurrence of middle ear disease, otitis media
Otitis media
Otitis media is inflammation of the middle ear, or a middle ear infection.It occurs in the area between the tympanic membrane and the inner ear, including a duct known as the eustachian tube. It is one of the two categories of ear inflammation that can underlie what is commonly called an earache,...
and conductive hearing loss
Conductive hearing loss
Conductive hearing loss occurs when there is a problem conducting sound waves anywhere along the route through the outer ear, tympanic membrane , or middle ear ....
(Perterson-Fazone et al., 2001). Conductive hearing loss is frequently seen in this population due to almost constant middle ear disease (Gould et al., 1982).
Crouzon Syndrome
Patients with Crouzon syndrome sometimes exhibit malformations of the external ear and/or the middle ear, such as malalignment of the pinna (Peterson-Falzone et al., 2001). Literature has suggested that persons with Crouzon syndrome typically have conductive hearing lossConductive hearing loss
Conductive hearing loss occurs when there is a problem conducting sound waves anywhere along the route through the outer ear, tympanic membrane , or middle ear ....
caused by middle ear effusion (or fluid in the middle ear) and perforation to ossicular fixation (ossicles
Ossicles
The ossicles are the three smallest bones in the human body. They are contained within the middle ear space and serve to transmit sounds from the air to the fluid-filled labyrinth . The absence of the auditory ossicles would constitute a moderate-to-severe hearing loss...
), intratympanic bony masses (tympanic membrane), ossicular anomalies, and closure of the oval window
Oval window
The oval window is a membrane-covered opening which leads from the middle ear to the vestibule of the inner ear.Vibrations that come into contact with the tympanic membrane travel through the three ossicles and into the inner ear...
. Patients with a sensorineural hearing loss
Sensorineural hearing loss
Sensorineural hearing loss is a type of hearing loss in which the root cause lies in the vestibulocochlear nerve , the inner ear, or central processing centers of the brain....
have also been reported, but are less likely to occur.
Pfeiffer syndrome
A conductive hearing lossConductive hearing loss
Conductive hearing loss occurs when there is a problem conducting sound waves anywhere along the route through the outer ear, tympanic membrane , or middle ear ....
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
Atresia
Atresia is a condition in which a body orifice or passage in the body is abnormally closed or absent.Examples of atresia include:* Imperforate anus - malformation of the opening between the rectum and anus....
of the auditory canal, middle ear hypoplasia, and ossicular hypoplasia (Vallino-Napoli, 1996).
Ectrodactyly-ectrodermal dysplasia-cleft syndrome
Conductive hearing lossConductive hearing loss
Conductive hearing loss occurs when there is a problem conducting sound waves anywhere along the route through the outer ear, tympanic membrane , or middle ear ....
has been reported by many with ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome in association with a cleft palate (Perterson-Falzone, 2001).
Saethre-Chotzen 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 lossConductive hearing loss
Conductive hearing loss occurs when there is a problem conducting sound waves anywhere along the route through the outer ear, tympanic membrane , or middle ear ....
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 (http://www.worldcf.org/chotzen.cfm).
Velocardiofacial Syndrome
About 70% of individuals with velocardiofacial syndrome (VCFS) have minor auricular malformations, or malformations of the ear. In this syndrome, the ears are typically low-set and somewhat posteriorly rotated. In addition to external malformations, individuals with VCFS are more vulnerable to otitis mediaOtitis media
Otitis media is inflammation of the middle ear, or a middle ear infection.It occurs in the area between the tympanic membrane and the inner ear, including a duct known as the eustachian tube. It is one of the two categories of ear inflammation that can underlie what is commonly called an earache,...
because of the presence of a cleft
Cleft
Cleft lip and cleft palate , which can also occur together as cleft lip and palate, are variations of a type of clefting congenital deformity caused by abnormal facial development during gestation. A cleft is a fissure or opening—a gap. It is the non-fusion of the body's natural structures that...
or other form of velopharyngeal inadequacy
Velopharyngeal inadequacy
Velopharyngeal inadequacy is a malfunction of a velopharyngeal mechanism.The velopharyngeal mechanism is responsible for directing the transmission of sound energy and air pressure in both the oral cavity and the nasal cavity. When this mechanism is impaired in some way, the valve does not fully...
. The hearing loss associated with VCFS is conductive when otitis media
Otitis media
Otitis media is inflammation of the middle ear, or a middle ear infection.It occurs in the area between the tympanic membrane and the inner ear, including a duct known as the eustachian tube. It is one of the two categories of ear inflammation that can underlie what is commonly called an earache,...
is present (Peterson-Falzone et al., 2001). There are also sporadic reports of sensorineural hearing loss
Sensorineural hearing loss
Sensorineural hearing loss is a type of hearing loss in which the root cause lies in the vestibulocochlear nerve , the inner ear, or central processing centers of the brain....
and a mixed hearing loss. Of individuals with VCFS who have a hearing loss, only 11% had a sensorineural loss and 5% a mixed loss (Reyes et al., 1999).
Hemifacial microsomia
Individuals with hemifacial microsomia, also called oculoauriculo-vertebral spectrum, often have ear malformations. These malformations can be in the form of preauricular ear pits, complete absence of the auricle, stenosis or atresia of the external auditory canal, ossicular malformations, middle ear deformities, and incomplete pneumatization of the temporal bone. Rahbar et al. (2001) found that 95% of individuals with this syndrome have an ear malformation of some type. In addition to ear malformations, a conductive hearing lossConductive hearing loss
Conductive hearing loss occurs when there is a problem conducting sound waves anywhere along the route through the outer ear, tympanic membrane , or middle ear ....
can be present, typically ranging from mild to severe. There are also reported cases of cochlear
Cochlear
Cochlear, the adjective form of cochlea, may refer to:* Cochlear implant, a sensory aid for the deaf* Cochlear nuclei, the ventral cochlear nucleus and the dorsal cochlear nucleus...
involvement and sensorineural hearing loss
Sensorineural hearing loss
Sensorineural hearing loss is a type of hearing loss in which the root cause lies in the vestibulocochlear nerve , the inner ear, or central processing centers of the brain....
. Rahbar et al. (2001) found that 86% of patients with Hemifacial Microsomia have a conductive hearing loss and 10% have a sensorineural hearing loss. There is no correlation between the severity of dysmorphic features and the degree of hearing loss, meaning individuals with mild malformations can have severely impaired hearing.
Nager syndrome
Individuals with Nager syndrome typically have the malformations of the auricle, external auditory canal, and middle ear, including the ossiclesOssicles
The ossicles are the three smallest bones in the human body. They are contained within the middle ear space and serve to transmit sounds from the air to the fluid-filled labyrinth . The absence of the auditory ossicles would constitute a moderate-to-severe hearing loss...
. These malformations were found in 80% of individuals with Nager syndrome. Inner ear malformations, however, are not typically seen in this population. Middle ear disease is common among individuals with Nager syndrome. Chronic otitis media
Otitis media
Otitis media is inflammation of the middle ear, or a middle ear infection.It occurs in the area between the tympanic membrane and the inner ear, including a duct known as the eustachian tube. It is one of the two categories of ear inflammation that can underlie what is commonly called an earache,...
and Eustachian tube
Eustachian tube
The Eustachian tube is a tube that links the nasopharynx to the middle ear. It is a part of the middle ear. In adult humans the Eustachian tube is approximately 35 mm long. It is named after the sixteenth-century anatomist Bartolomeo Eustachi...
deformity can result in conductive hearing loss
Conductive hearing loss
Conductive hearing loss occurs when there is a problem conducting sound waves anywhere along the route through the outer ear, tympanic membrane , or middle ear ....
. For this reason, early detection and treatment for middle ear disease is crucial in this population. Sensorineural hearing loss is not a typical characteristic of Nager syndrome; however, a subset of individuals present with a mixed hearing loss, due to a progressive sensorineural component combined with the typical conductive hearing loss (Herrman et al., 2005).
External links
- Cleft Palate-Craniofacial Journal Online for scholarly, peer-reviewed articles on topics related to clefting.
- Forum for families who have children with Treacher Collins syndrome
- For more information on Apert Syndrome