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 (microtia), 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).

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).

Mondini dysplasia, also known as Mondini malformation and Mondini defect, is an abnormality of the inner ear that is associated with sensorineural hearing loss.

This deformity was first described in 1791 by Mondini after examining the inner ear of a deaf boy. The Mondini dysplasia describes a cochlea with incomplete partitioning and a reduced number of turns, an enlarged vestibular aqueduct and a dilated vestibule. A normal cochlea has two and a half turns, a cochlea with Mondini dysplasia has one and a half turns; the basal turns being normally formed with a dilated or cystic apical turn to the cochlear. The hearing loss can deteriorate over time either gradually or in a step-wise fashion, or may be profound from birth.

Hearing loss associated with Mondini dysplasia may first become manifest in childhood or early adult life. Some children may pass newborn hearing screen to lose hearing in infancy but others present with a hearing loss at birth. Hearing loss is often progressive and because of the associated widened vestibular aqueduct may progress in a step-wise fashion associated with minor head trauma. Vestibular function is also often affected. While the hearing loss is sensorineural a conductive element may exist probably because of the third window effect of the widened vestibular aqueduct. The Mondini dysplasia can occur in cases of Pendred Syndrome and Branchio-oto-renal syndrome and in other syndromes, but can occur in non-syndromic deafness.

"20% to 40% of children with microtia/anotia will have additional defects that could suggest a syndrome."

Treacher-Collins Syndrome: (TCS) A congenital disorder caused by a defective protein known as treacle, and is characterized by craniofacial deformities; malformed or absent ears are also seen in this syndrome. The effects may be mild, undiagnosed to severe, leading to death. Because the ear defects are much different in this disorder and not only affect the outer ear, but the middle ear as well, reconstructive surgery may not help with the child's hearing and in this case a Bone Anchored Hearing Aid would be best. BAHA will only work, however if the inner ear and nerve are intact.

Goldenhar Syndrome: A rare congenital birth defect that causes abnormalities of facial development. also known as Oculoauricular Dysplasia. The facial anomalies include underdeveloped, asymmetric half of the face. The defect is capable of affecting tissue, muscle, and the underlying bone structure of the side of the face with the abnormality.

Ablepharon-macrostomia Syndrome: (AMS) A rare genetic disorder characterized by various physical anomalies which affect the craniofacial area, the skin, the fingers, and the genitals.

There are four grades of microtia:

- Grade I: A less than complete development of the external ear with identifiable structures and a small but present external ear canal

- Grade II: A partially developed ear (usually the top portion is underdeveloped) with a closed [stenotic] external ear canal producing a conductive hearing loss.

- Grade III: Absence of the external ear with a small peanut-like vestige structure and an absence of the external ear canal and ear drum. Grade III microtia is the most common form of microtia.

- Grade IV: Absence of the total ear or anotia.

The goal of medical intervention is to provide the best form and function to the underdeveloped ear.

Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Genetic changes are related to the following types of nonsyndromic deafness.

- DFNA: nonsyndromic deafness, autosomal dominant

- DFNB: nonsyndromic deafness, autosomal recessive

- DFNX: nonsyndromic deafness, X-linked

- nonsyndromic deafness, mitochondrial

Each type is numbered in the order in which it was described. For example, DFNA1 was the first described autosomal dominant type of nonsyndromic deafness. Mitochondrial nonsyndromic deafness involves changes to the small amount of DNA found in mitochondria, the energy-producing centers within cells.

Most forms of nonsyndromic deafness are associated with permanent hearing loss caused by damage to structures in the inner ear. The inner ear consists of three parts: a snail-shaped structure called the cochlea that helps process sound, nerves that send information from the cochlea to the brain, and structures involved with balance. Loss of hearing caused by changes in the inner ear is called sensorineural deafness. Hearing loss that results from changes in the middle ear is called conductive hearing loss. The middle ear contains three tiny bones that help transfer sound from the eardrum to the inner ear. Some forms of nonsyndromic deafness involve changes in both the inner ear and the middle ear; this combination is called mixed hearing loss.

The severity of hearing loss varies and can change over time. It can affect one ear (unilateral) or both ears (bilateral). Degrees of hearing loss range from mild (difficulty understanding soft speech) to profound (inability to hear even very loud noises). The loss may be stable, or it may progress as a person gets older. Particular types of nonsyndromic deafness often show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low tones.

Nonsyndromic deafness can occur at any age. Hearing loss that is present before a child learns to speak is classified as prelingual or congenital. Hearing loss that occurs after the development of speech is classified as postlingual.

SSHL is diagnosed via pure tone audiometry. If the test shows a loss of at least 30db in three adjacent frequencies, the hearing loss is diagnosed as SSHL. For example, a hearing loss of 30db would make conversational speech sound more like a whisper.

Since the inner ear is not directly accessible to instruments, identification is by patient report and audiometric testing. Of those who present to their doctor with sensorineural hearing loss, 90% report having diminished hearing, 57% report having plugged feeling in ear, and 49% report having ringing in ear (tinnitus). About half report vestibular (vertigo) problems.

For a detailed exposition of symptoms useful for screening, a self-assessment questionnaire was developed by the American Academy of Otolaryngology, called the Hearing Handicap Inventory for Adults (HHIA). It is a 25-question survey of subjective symptoms.

Although large vestibular aqueducts are a congenital condition, hearing loss may not be present from birth. Age of diagnosis ranges from infancy to adulthood, and symptoms include fluctuating and sometimes progressive sensorineural hearing loss and disequilibrium.

The vestibular aqueduct acts as a canal between the inner ear and the cranial cavity. Running through it is a tube called the endolymphatic duct, which normally carries a fluid called endolymph from the inner ear to the endolymphatic sac in the cranial cavity. When the endolymphatic duct and sac are larger than normal, as is the case in large vestibular aqueduct syndrome, endolymph is allowed to travel back from the endolymphatic sac into the inner ear. This often results fluctuations in hearing levels. Enlarged vestibular aqueducts often occur with other inner ear development problems, such as cochlear deformities. Enlarged vestibular aqueducts are part of the classic Mondini deformity. Enlarged vestibular aqueducts with enlarged endolymphatic sacs occur in Pendred syndrome which is caused by a defect on chromosome 7q31.. Enlarged vestibular aqueducts can also occur in Branchio-oto-renal syndrome, CHARGE syndrome and Renal Tubular Acidosis.

Enlarged vestibular aqueducts can be bilateral or unilateral.

Hearing loss caused by large vestibular aqueduct syndrome is not inevitable, although people with the syndrome are at a much higher risk of developing hearing loss than the general population. Hearing loss is very likely.

Anotia ("no ear") describes a rare congenital deformity that involves the complete absence of the pinna, the outer projected portion of the ear, and narrowing or absence of the ear canal. This contrasts with microtia, in which a small part of the pinna is present. Anotia and microtia may occur unilaterally (only one ear affected) or bilaterally (both ears affected). This deformity results in conductive hearing loss, deafness.

Conductive hearing loss makes all sounds seem faint or muffled. The hearing loss is worse in low frequencies.

Congenital conductive hearing loss is usually identified through newborn hearing screening or may be identified because the baby has microtia or other facial abnormalities. Conductive hearing loss developing during childhood is usually due to otitis media with effusion and may present with speech and language delay or difficulty hearing. Later onset of conductive hearing loss may have an obvious cause such as an ear infection, trauma or upper respiratory tract infection or may have an insidious onset related to chronic middle ear disease, otosclerosis or a tumour of the naso-pharynx. Earwax is a very common cause of a conductive hearing loss which may present suddenly when water gets behind the wax and this blocks the ear canal.

Congenital hearing loss is a hearing loss present at birth. It can include hereditary hearing loss or hearing loss due to other factors present either in-utero (prenatal) or at the time of birth.

Conductive hearing loss occurs when there is a problem conducting sound waves anywhere along the route through the outer ear, tympanic membrane (eardrum), or middle ear (ossicles).

This type of hearing loss may occur in conjunction with sensorineural hearing loss (mixed hearing loss) or alone.

Symptoms in people with Treacher Collins syndrome vary. Some individuals are so mildly affected that they remain undiagnosed, while others have moderate to severe facial involvement and life-threatening airway compromise. Most of the features of TCS are symmetrical and are already recognizable at birth.

The most common symptom of Treacher Collins syndrome is underdevelopment of the lower jaw and underdevelopment of the zygomatic bone. This can be accompanied by the tongue being retracted. The small mandible can result in a poor occlusion of the teeth or in more severe cases, trouble breathing or swallowing. Underdevelopment of the zygomatic bone gives the cheeks a sunken appearance.

The external ear is sometimes small, rotated, malformed, or absent entirely in people with TCS. Symmetric, bilateral narrowing or absence of the external ear canals is also described. In most cases, the bones of the middle ear and the middle ear cavity are misshapen. Inner ear malformations are rarely described. As a result of these abnormalities, a majority of the individuals with TCS have conductive hearing loss.

Most affected people also experience eye problems, including colobomata (notches) in the lower eyelids, partial or complete absence of eyelashes on the lower lid, downward angled eyelids, drooping of upper and lower eyelids, and narrowing of the tear ducts. Vision loss can occur and is associated with strabismus, refractive errors, and anisometropia. It can also be caused by severely dry eyes, a consequence of lower eyelid abnormalities and frequent eye infections.

Although an abnormally shaped skull is not distinctive for Treacher Collins syndrome, brachycephaly with bitemporal narrowing is sometimes observed. Cleft palate is also common.

Dental anomalies are seen in 60% of affected people, including tooth agenesis (33%), discoloration (enamel opacities) (20%), malplacement of the maxillary first molars (13%), and wide spacing of the teeth. In some cases, dental anomalies in combination with mandible hypoplasia result in a malocclusion. This can lead to problems with food intake and the ability to close the mouth.

Less common features of TCS may add to an affected person's breathing problems, including sleep apnea. Choanal atresia or stenosis is a narrowing or absence of the choanae, the internal opening of the nasal passages. Underdevelopment of the pharynx, can also narrow the airway.

Features related to TCS that are seen less frequently include nasal deformities, high-arched palate, macrostomia, preauricular hair displacement, cleft palate, hypertelorism, notched upper eyelid, and congenital heart defects.

The general public may associate facial deformity with developmental delay and intellectual disability, but more than 95% of people affected with TCS have normal intelligence. The psychological and social problems associated with facial deformity can affect quality of life in people with TCS.

This is an inherited disease. The primary form of hearing loss in otosclerosis is conductive hearing loss (CHL) whereby sounds reach the ear drum but are incompletely transferred via the ossicular chain in the middle ear, and thus partly fail to reach the inner ear (cochlea). This usually will begin in one ear but will eventually affect both ears with a variable course. On audiometry, the hearing loss is characteristically low-frequency, with higher frequencies being affected later.

Sensorineural hearing loss (SNHL) has also been noted in patients with otosclerosis; this is usually a high-frequency loss, and usually manifests late in the disease. The causal link between otosclerosis and SNHL remains controversial. Over the past century, leading otologists and neurotologic researchers have argued whether the finding of SNHL late in the course of otosclerosis is due to otosclerosis or simply to typical presbycusis.

Most patients with otosclerosis notice tinnitus (head noise) to some degree. The amount of tinnitus is not necessarily related to the degree or type of hearing impairment. Tinnitus develops due to irritation of the delicate nerve endings in the inner ear. Since the nerve carries sound, this irritation is manifested as ringing, roaring or buzzing. It is usually worse when the patient is fatigued, nervous or in a quiet environment.

Other causes of congenital hearing loss that are not hereditary in nature include prenatal infections, illnesses, toxins consumed by the mother during pregnancy or other conditions occurring at the time of birth or shortly thereafter. These conditions typically cause sensorineural hearing loss ranging from mild to profound in degree.

Patients with unilateral hearing loss have difficulty in

- hearing conversation on their impaired side

- localizing sound

- understanding speech in the presence of background noise.

- interpersonal and social relations

- difficulty concentrating in large, open environments

In quiet conditions, speech discrimination is no worse than normal hearing in those with partial deafness; however, in noisy environments speech discrimination is almost always severe.

There are four main types of hearing loss, conductive hearing loss, sensorineural hearing loss, central deafness and combinations of conductive and sensorineural hearing losses which is called mixed hearing loss. An additional problem which is increasingly recognised is auditory processing disorder which is not a hearing loss as such but a difficulty perceiving sound.

- Conductive hearing loss

Conductive hearing loss is present when the sound is not reaching the inner ear, the cochlea. This can be due to external ear canal malformation, dysfunction of the eardrum or malfunction of the bones of the middle ear. The ear drum may show defects from small to total resulting in hearing loss of different degree. Scar tissue after ear infections may also make the ear drum dysfunction as well as when it is retracted and adherent to the medial part of the middle ear.

Dysfunction of the three small bones of the middle ear – malleus, incus, and stapes – may cause conductive hearing loss. The mobility of the ossicles may be impaired for different reasons and disruption of the ossicular chain due to trauma, infection or ankylosis may also cause hearing loss.

- Sensorineural hearing loss

Sensorineural hearing loss is one caused by dysfunction of the inner ear, the cochlea or the nerve that transmits the impulses from the cochlea to the hearing centre in the brain. The most common reason for sensorineural hearing loss is damage to the hair cells in the cochlea. Depending on the definition it could be estimated that more than 50% of the population over the age of 70 has impaired hearing.

- Central deafness

Damage to the brain can lead to a central deafness. The peripheral ear and the auditory nerve may function well but the central connections are damaged by tumour, trauma or other disease and the patient is unable to hear.

- Mixed hearing loss

Mixed hearing loss is a combination of conductive and sensorineural hearing loss. Chronic ear infection (a fairly common diagnosis) can cause a defective ear drum or middle-ear ossicle damages, or both. In addition to the conductive loss, a sensory component may be present.

- Central auditory processing disorder

This is not an actual hearing loss but gives rise to significant difficulties in hearing. One kind of auditory processing disorder is King-Kopetzky syndrome, which is characterized by an inability to process out background noise in noisy environments despite normal performance on traditional hearing tests.

Primary symptoms:

- sounds or speech becoming dull, muffled or attenuated

- need for increased volume on television, radio, music and other audio sources

- difficulty using the telephone

- loss of directionality of sound

- difficulty understanding speech, especially women and children

- difficulty in speech discrimination against background noise (cocktail party effect)

Secondary symptoms:

- hyperacusis, heightened sensitivity to certain volumes and frequencies of sound, resulting from "recruitment"

- tinnitus, ringing, buzzing, hissing or other sounds in the ear when no external sound is present

- vertigo and disequilibrium

Usually occurs after age 50, but deterioration in hearing has been found to start very early, from about the age of 18 years. The ISO standard 7029 shows expected threshold changes due purely to age for carefully screened populations (i.e. excluding those with ear disease, noise exposure etc.), based on a meta-analysis of published data. Age affects high frequencies more than low, and men more than women. One early consequence is that even young adults may lose the ability to hear very high frequency tones above 15 or 16 kHz. Despite this, age-related hearing loss may only become noticeable later in life. The effects of age can be exacerbated by exposure to environmental noise, whether at work or in leisure time (shooting, music, etc.). This is noise-induced hearing loss (NIHL) and is distinct from presbycusis. A second exacerbating factor is exposure to ototoxic drugs and chemicals.

Over time, the detection of high-pitched sounds becomes more difficult, and speech perception is affected, particularly of sibilants and fricatives. Patients typically express a decreased ability to understand speech. Once the loss has progressed to the 2-4kHz range, there is increased difficulty understanding consonants. Both ears tend to be affected. The impact of presbycusis on communication depends on both the severity of the condition and the communication partner.

Hearing loss is sensory, but may have accompanying symptoms:

- pain or pressure in the ears

- a blocked feeling

There may also be accompanying secondary symptoms:

- hyperacusis, heightened sensitivity to certain volumes and frequencies of sound, sometimes resulting from "recruitment"

- tinnitus, ringing, buzzing, hissing or other sounds in the ear when no external sound is present

- vertigo and disequilibrium

- tympanophonia, abnormal hearing of one's own voice and respiratory sounds, usually as a result of a patulous eustachian tube or dehiscent superior semicircular canals

- disturbances of facial movement (indicating possible tumour or stroke)

Hearing loss is classified as mild, moderate, severe or profound. Pure-tone audiometry for air conduction thresholds at 500, 1000 and 2000 Hz is traditionally used to classify the degree of hearing loss in each ear. Normal hearing thresholds are considered to be 25 dB sensitivity, though it has been proposed that this threshold is too high, and that 15 dB (about half as loud) is more typical. Mild hearing loss is thresholds of 25–45 dB; moderate hearing loss is thresholds of 45–65 dB; severe hearing loss is thresholds of 65–85 dB; and profound hearing loss thresholds are greater than 85 dB.

Tinnitus occurring in only one ear should prompt the clinician to initiate further evaluation for other etiologies. In addition, the presence of a pulse-synchronous rushing sound may require additional imaging to exclude vascular disorders.

Otosclerosis is traditionally diagnosed by characteristic clinical findings, which include progressive conductive

hearing loss, a normal tympanic membrane, and no evidence of middle ear inflammation. The cochlear promontory may have a faint pink tinge reflecting the vascularity of the lesion, referred to as the Schwartz sign.

Approximately 0.5% of the population will eventually be diagnosed with otosclerosis. Post-mortem studies show that as many as 10% of people may have otosclerotic lesions of their temporal bone, but apparently never had symptoms warranting a diagnosis. Caucasians are the most affected race, with the prevalence in the Black and Asian populations being much lower. In clinical practice otosclerosis is encountered about twice as frequently in females as in males, but this does not reflect the true sex ratio. When families are investigated it is found that the condition is only slightly more common in women. Usually noticeable hearing loss begins at middle-age, but can start much sooner. The hearing loss was long believed to grow worse during pregnancy, but recent research does not support this belief.

Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree a person is affected, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. Those affected generally have a normal intelligence.

TCS is usually autosomal dominant. More than half the time it occurs as a result of a new mutation rather than being inherited from a person's parents. The involved gene may include "TCOF1", "POLR1C", or "POLR1D". Diagnosis is generally suspected based on symptoms and X-rays, and potentially confirmation by genetic testing.

Treacher Collins syndrome is not curable. Symptoms may be managed with reconstructive surgery, hearing aids, speech therapy, and other assistive devices. Life expectancy is generally normal. TCS occurs in about one in 50,000 people. The syndrome is named after Edward Treacher Collins, an English surgeon and ophthalmologist, who described its essential traits in 1900.