- Cholesteatoma Presence of keratinised squamous epithelium in the middle ear cleft. This can be either acquired or congenital.
- Otitis Media Inflammation of the middle ear cleft. This can either be acute, recurrent acute or chronic and can be with or without effusion
- Vestibular Schwannoma A vestibular schwannoma (VS) is a benign tumor arising from the myelin producing Schwann cells of the vestibular nerve. It most commonly arises at the medial aspect of the IAM (porus acousticus) and is sporadic in 95% of cases but can be linked to Neurofibromatosis Type 2 (NF2)
- Otosclerosis This is a bony dyscrasia of the otic capsule that most commonly affects the fissula ante fenestram leading to fixation of the stapes with a resultant conductive hearing loss
- Superior Canal Dehiscence Abnormal opening in the superior semi-circular canal, presenting with typical symptoms of vertigo triggered by loud sounds (Tullio’s Phenomenon), hearing eye movements, autophony, oscillopsia.
- Vertigo The hallucination of motion of the body or environment which may be rotatory or linear.
- Necrotising otitis externa Progressive infection of external ear canal that develops into osteomyelitis of the canal and spreads along the skull base. Infection can also spread through fissure of santorini to the parotid or foramen of Huschke to the TMJ or infratemporal fossa
- Paraganglioma Benign neuroendocrine tumour of chromaffin cells. In the head and neck these can be jugular, tympanic, vagal and carotid body tumours. 80% are sporadic whilst 20% are inherited (most commonly a defect in the SDHB, SDHC, and SDHD genes though some are strongly associated with von Hippel Lindau and MEN2
- Bell's Phenomenon Bell's phenomenon is a normal defense reflex present in about 75% of the population, resulting in elevation of the globes on closure of the eyes and becomes evident in facial nerve palsy due to weakness of orbicularis oculi
- OscillopsiaOscillopsia is the sensation that the surrounding environment is constantly in motion when it is stationary.
- Cleft lip & palate A facial birth defect with an incidence of 1 in 700 newborns and is caused by an embryological disruption of the fusion of the frontonasal prominence, the paired right and left maxillary and mandibular prominences between 4th and 9th weeks gestation.
- Choanal Atresia Congenital choanal obstruction with an incidence of 1:7000 and is due to failed recanalization of the nasal fossae. Can be membranous, bony or mixed. Unilateral or bilateral. Females > Males.
- Treacher Collins Syndrome Genetic disorder that is mostly autosomal dominant, caused by TCOF1 gene mutation. Gives rise to characteristic facial features: downslanting palpebral fissures, maxillary and mandibular hypoplasia, microtia and aural atresia.
- Laryngmalacia There are a number of aetiologies at play including reduced neuromuscular tone and coordination as well as the impact of gastrooesophageal reflux disease on immature cartilage.
- Drooling Excess saliva production or reduction in saliva clearance. Can be physiological before the age of 4.
- Haemangioma Congenital vascular anomaly comprised of endothelial cells. There are 3 recognised stages: proliferative, involuting, and involuted. Normally present at 2 weeks and fully involute by 7-12 years.
- Kasabach-Merrit Combination of vascular tumour and consumptive thrombocytopenia. Usually caused by kaposiform haemangioendotheliomas.
- Vascular malformations Localised or diffuse abnormalities in normal vasculogenesis leading to anomalous capillary, lymphatic, venous, arterial or mixed vascular channels. They can be classified as low-flow or high-flow malformations. They are present at birth, never proliferate, never involute, and grow with the child. Rapid enlargement can be due to hormonal changes, infection or trauma.
- Lymphangioma A benign slow growing tumour of lymphatic vessels. Can be classified based on the ultrasonographic appearance into three different subtypes: macrocystic, mixed and microcystic lymphangiomas. Generally macrocystic respond best to sclerotherapy with OK432 or bleomycin
- Atypical croup (No formal definition) A documented history of episodes of stridor and barking cough in a child ≤ 6 months or > 3 years or with recurrent episodes of croup (4 or more episodes in total)
- Craniosynostosis Premature fusion of the sutures of the skull preventing normal skull expansion and results in deformity of the skull. Microcephaly occurs when there is fusion of all sutures prematurely.
- Pyriform aperture stenosis This is narrowing of the nasal airway anteriorly and is believed to be due to overgrowth of maxillary ossification at the pyriform aperture leading to bony stenosis. Repair involves drilling of the pyriform aperture usually in a sub-labial approach
- CHARGE An autosomal dominant condition affecting the CHD7 gene on Chromosome 8 characterised by a number of congenital anomalies including coloboma, choanal atresia, ear anomalies, deafness, facial anomalies, heart defects, genital hypoplasia, growth retardation, and developmental delay
- Treacher Collins An autosomal dominant disorder of craniofacial development most commonly affecting the TCOF1 gene on Chromosome 5. The major features of the disease include midface hypoplasia, micrognathia, microtia, conductive hearing loss and cleft palate and bilateral, symmetric downslanting palpebral fissures
- Pierre Robin Sequence This is a congenital birth defect characterized by primary mandibular hypoplastia leading to glossoptosis leading to incomplete palatal fusion and cleft palate
- Wardenburg syndrome This is the most common autosomal dominant congenital cause of hearing loss. There are 4 types with type 1 & 2 being most common and it is characterised by the major diagnostic criteria of dystopia canthorum, white forelock, heterochromia iridis and a family history of WS. The most commonly affected genes are the PAX3 and SOX10
- Branchio-oto-renal syndrome Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder of the EYA1 gene on chromosome 8 characterized by hearing loss, congenital malformations of the ears, branchial arch anomalies and renal anomolies
- VACTERL This is a nonrandom association of birth defects that affect multiple anatomical structures. They may present to ENT with tracheo-oesophageal fistulae and choanal atresia however have other defects including verterbral abnormalities, anal atresia, renal anomolies and limb defects
- PHACES This is a nonrandom association of birth defects that affect multiple anatomical structures. They may present to ENT with large facial hemangiomas, arterial and cardiac anomalies, eye abnormalities and sternal cleft
- Crouzon Congenital autosomal dominant craniosynostosis caused by FGFR2 mutation (Chromosome 10) characterised by brachycephaly, exophthalmos, hypertelorism, maxillary hypoplasia and low set ears
- Apert Similar to Crouzon but with syndactyl
- Pfeiffer Congenital autosomal dominant craniosynostosis caused by FGFR2 and FGFR1 mutation (Chromosome 10 & 8). There are 3 types all of which are characterised by broad thumbs, broad great toes, brachydactyly and syndactyly.
- Achondroplasia An autosomal dominant condition characterised by dwarfism caused by defect in the FGFR3. ENT manifestation include macrocephaly and a prominent forehead, midface hypoplasia and a depressed nasal bridge. These can contribute to nasal and upper airway obstruction which along with adenotonsillar hypertrophy can lead to Obstructive sleep apnoea. Foramen magnum stenosis can cause Central sleep apnoea.
- Usher's This is the most common autosomal recessive cause of hearing loss and most common cause of deaf-blind. There are 3 types
- Cahart notch Artefactual dip in bone conduction at 2Khz found in conductive hearing loss (CLH), which resolves on resolution of the CHL. It is believed to be due to the natural resonance of middle ear structures.
- Tinnitus Perception of sound or noise in the ear without an external source.
- Tympanometry Tympanometry is an objective test of impedance and admittance of the tympanic ossicular system under pressure in response to a continuous tone normally at 226Hz
- ECochG Electrocochleaography is an objective test that measures the electrical output of the cochlea and auditory nerve in response to an auditory stimulus
- CERA Cortical evoked response audiometry is an objective is an electrophysiological test that records the signals from the auditory cortex in response to sound (normally tone bursts)
- Stenger test Stenger test is a test of hearing, primarily used to confirm non-organic hearing loss. This can be done with tuning forks or pure tones. The individual is blindfolded and two tuning forks of the same frequency are struck and kept at a distance of 25 cm from each ear. The individual will claim to hear it in the normal ear. The tuning fork is brought closer to the feigned ear while maintaining the tuning fork at the normal side at the same distance. The individual will deny hearing anything if he/she is a malingerer.
- cVEMP cVEMP testing is based on the sound-responsive vestibular cells, mainly within the inner ear saccule, momentarily inhibiting ipsilateral muscle tone via the cervical vestibulo-spinal/collic pathway. It is performed by applying sound stimulation (generally using 95–100 dB loud, short tones with a frequency of 500–1,000 Hz) to 1 ear while recording surface EMG over the ipsilateral sternocleidomastoid muscle. In Meniere's, there is increased impedence to flow (endolymphatic hydrops) leading to decreased amplitude and a higher threshold. In superior semicircular canal dehisence (SSCCD) there is decreased impedence and increased amplitude and decreased threshold
- Pure tone audiometry Pure tone audiometry is a subjective hearing test that should be done as per the British Society of Audiology guidelines in a soundproof room starting with the better hearing ear. A 40db tone is initially presented at 1KHz and increased until a response occurs. Following a satisfactory positive response, the level of the tone is reduced in 10-dB steps until no further response occurs. The level of the tone is then increased in 5-dB steps until a response occurs. This process is repeated until the subject responds at the same level 50 % or more times which is the hearing threshold level.
- Cochlear implant Electrical device that transforms sound into electrical signal which stimulates the ganglion cells and cochlear nerve. It is made up of an external and internal component (External - microphone, sound processor, transmitter coil. Internal - receiver stimulator, electrode array)
- Presbycusis Age-related hearing loss. Sensory (organ of Corti), Neural (1st order neurone loss, poor speech discrimination), Strial (flat audiogram, good speech discrimination), Cochlear conductive
- Otoacoustic emissions Sounds originating emitted by the cochlea from the electromotility of outer hair cells as they respond to auditory stimulation. This makes up the first part of the neonatal nearing screening programme. Test involves a right fitting ear canal probe containing 1. loudspeaker 2. microphone 3. signal separating processor to distinguish OAE from other noise. Stimuli vary from none to clicks or tones
- Meniere's Syndrome Disease of membranous inner ear which has a pathological correlate of endolymphatic hydrops. AAO: definite (audio confirmation + probable) and probable (2 or more episodes of vertigo lasting 20mins-12hrs, fluctuating hearing loss, tinnitus or pressure, and no better explanation)
- Temporary threshold shift Noise induced SNHL which resolves within 48hours, can lead to permanent threshold shift if repeated
- Autoimmune inner ear disease (AIED) AIED is characterised by bilateral progressive SNHL due to a systemic inflammatory disease. Autoantibodies that target inner ear-specific antigens have been identified (anti-68kD) associating SNHL and autoimmune processes such as Cogan syndrome, rheumatoid arthritis, and systemic lupus erythematosus