It's infectious
Wildcard
In the middle (ear)
I'm a syndrome
The X-factor
100

1. SNHL - likely due to postnatal inflammatory response (varying degrees)

2. Seizures

3. Enlarged liver and spleen

4. Yellowing of skin and whites of eyes (jaundice)

What is toxoplasmosis? 

100

1. Sudden fluctuating HL

2. Tinnitus

3. Fullness in ear

4. Dizziness and vertigo

What is perilymph fistula? 

100

1. Usually bilateral CHL, often requires PE tubes

2. Small lower jaw

3. Cleft palate

4. Glossoptosis (retraction of the tongue)

What is Pierre Robin sequence? 

100
  • All types of hearing loss
  • developmental retardation
  • external ear abnormalities that are often asymmetric
  • heart defects

What is CHARGE syndrome?

100

1. Conductive (due to chronic middle ear infections; 80% of population); SNHL (progressive; 90% of population)

2. Only affects females (missing all or part of the second X chromosome)

3. Infertility

4. Short stature

What is Turner syndrome? 

200

1. SNHL - varies from mild to profound (bilateral symmetrical)

2. Contagious viral infection

3. Characterized by distinctive red rash

4. Associated with encephalitis

What is rubella? 

200
  • Usher syndrome

    1. SNHL (due to gene mutation -- autosomal recessive genetic trait)

    2. Retinitis pigmentosa (a disorder that affects the retina and causes progressive loss of vision) 

    3. Vitiligo (loss of pigment in skin)

    4. Can cause severe balance issues (due to abnormal development of vestibular hair cells)

What is Usher syndrome?

200
  • Conductive hearing loss due to atresia
  • Benign growths of the eye, incomplete development of ear, nose and lips, spinal deformities, and most deformities only affect one side of the body.

What is Goldenhar syndrome?

200
  • 80% CHL, 4‐20% mixed or SNHL possibly associated with unresolved/untreated chronic OM, anomalies of the cochlea, internal auditory canal and EVA
  • cranio-facial abnormalities
  • stenotic or collapsing ear canals
  • small and/or deformed pinna

What is Down Syndrome/Trisomy 21? 

200
  • Progressive hearing loss that starts postlingually and is typically auditory neuropathy
  • X-linked syndrome
  • Cortical deterioration and related cognitive issues
  • Vision problems
  • Muscle dystonia
  • Treatment sometimes includes cochlear implants if the neuropathy is causing significant issues with speech understanding

What is Long QT syndrome? 

300

1. SNHL - might cause deafness

2. Skeletal bone abnormalities 

3. Infant irritability 

4. Failure to gain weight/thrive 

What is syphilis? 

300
  • Associated with sensorineural deafness and temporal processing difficulties.
  • Results in progressive gait ataxia and slurring of speech (patients may appear dizzy or drunk)
  • symptoms usually begin between age 5-15.

What is Friedreich ataxia? 

300
  • Primarily CHL related to auricular anomalies and cleft, ~11‐20% congenital SNHL as well as some cases of EVA. Hearing loss can be unilateral and can be likely related to vascular abnormalities as well as some case reports of labyrinthine anomalies.  
  • cardiac defects
  • Thymus hypoplasia (incomplete or under- development) and/or T cell-mediated immunodeficiency
  • Hypocalcemia and/or absence of parathyroids (endocrine gland that control calcium)

What is DiGeorge sequence? 

300

1. SNHL

2. White forelock (frontal white blaze of hair), pale blue eyes

3. Pigmentation deficiencies in hair, skin and eyes

4. Malformation of arms and hands

What is Waardenburg syndrome? 

300
  • Sensorineural hearing loss (prevalence of 20%) and troubles with auditory processing 
  • Extra x chromosome, phenotypically male 
  • Low levels of testosterone 
  • Hypogonadism and infertility 

What is Klinefelter syndrome (XXY)? 

400
  • progressive SNHL
  • developmental delay
  • psychomotor retardation
  • most common infectious virus; not highly contagious & most people are asymptomatic; when virus is re-activated it is excreted in bodily fluids

What is cytomegalovirus? 

400
  • Sensorineural (possibly hidden) hearing loss
  • motor and sensory neuropathy
  • nephritis (kidney inflammation)
  • foot deformities

What is Charcot-Marie-Tooth? 

400
  • Conductive hearing loss due to atresia
  • Abnormal development of the lower half of the face, this is one of the characteristics of Goldenhar syndrome (often confused with Goldenhar), usually deformities only affect one side of the body.

What is hemifacial microsomia?

400
  • Mild hearing loss at first and slowly progressive (SNHL)
  • Vascular abnormalities in cochlea 
  • Retinal detachment
  • Possible mental retardation

What is Norrie syndrome? 

400
  • Progressive sensorineural hearing loss that starts postlingually and is typically auditory neuropathy
  • X-linked syndrome
  • Cortical deterioration and related cognitive issues
  • Vision problems
  • Muscle dystonia
  • Treatment sometimes includes cochlear implants

What is Mohr-Tranebjaerg syndrome? 

500
  • Sensorineural hearing loss
  • Congenital infection (a serious infection caused typically during birth) 
  • Risk factors: rupture of membranes >6h, chorioamnionitis, cervicitis, vaginal delivery 
  • 3 types: SEM (skin, eyes, mouth), disseminated herpes (most common & lethal; affects internal organs; 80% will die), CNS (affects nervous system & brain; 50% will die; issues include seizures, irritability, poor feeding)

What is herpes? 

500
  • Sensorineural hearing loss: depending on the cause - if neural cause → sensorineural hearing loss and potentially auditory processing problems, if auditory structural abnormalities → potentially conductive or sensorineural loss
  • Stunted growth resulting in short stature
  • Low set ears that rotate to the back in position
  • Can cause blood clotting problems or low platelet count which would result in excessive bleeding if a blood vessel is broken
  • Also known as Turner syndrome in Men

What is Noonan syndrome?

500

1. Conductive (due to increased prevalence of otitis media; genetic)

2. Cleft palate

3. Cardiac anomalies

4. Minor learning problems and speech and feeding problems.

What is velocardiofacial syndrome? 

500
  • Congenital severe bilateral  sensorineural hearing loss
  • 3rd most common autosomal recessive syndrome
  • Long  QT syndrome (electro cardiac problem)
  • Syncopal episodes (fainting)
  • Main features; Heart problems
  • Sudden death

What is Jervell and Lange-Nielsen syndrome? 

500

collagen synthesis disease (alteration in Type IV) characterized by renal disease and eye abnormalities

  • HL: mild to severe SNHL caused by inner ear abnormalities; notch at 2 – 4 kHz; late onset (late teen/young adult), progressive linked to kidney function
  • Features: anterior lenticonus (misshapen lenses), light coloured retina, sclerosis fibrosis (basket weave appearance: thickening of skin) high protein levels in their urine
  • Males have more significant severity of features than females

What is Alport syndrome? 

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