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

1. SNHL  (varying degrees)

2. Seizures, hypotonia

3. Enlarged liver and spleen

4. Caused by microscopic parasite that can live inside the cells of humans and animals

What is toxoplasmosis? 

100

1. Sudden fluctuating HL

2. Tinnitus

3. Fullness in ear

4. Dizziness and vertigo

What is a perilymph fistula? 

100

1. Usually bilateral CHL, often requires PE tubes

2. Cleft palate

3. Glossoptosis (retraction of the tongue)

4. A sequence of events caused by underdevelopment of the jaw

What is Pierre Robin sequence? 

100
  • All types of hearing loss but mixed is most common
  • developmental retardation
  • external ear abnormalities that are often asymmetric
  • genital/urinary abnormalities
  • 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

5. Renal abnormalities 

What is Turner syndrome? 

200
  • Sensorineural hearing loss
  • Cataracts
  • Microphthalmia (eyeballs smaller than normal)
  • cardiac/respiratory defects
  • Cerebral palsy
  • Significant cognitive delay

What is rubella? 

200

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

Mild to moderate conductive hearing loss due to abnormal middle and outer ear development

Increased risk of otitis media or cholesteatoma

Benign growths of the eye, craniofacial abnormalities including incomplete development of ear, nose and lips, vision problems, 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 (but onset variable) and typically causes auditory neuropathy
  • Bilateral profound SNHL 
  • X-linked syndrome
  • Cortical deterioration and related cognitive issues
  • Abnormally fast heart rate; can lead to sudden death 
  • Temporary loss of consciousness

What is Long QT syndrome? 

300
  • Sensorineural hearing loss 
  • Vestibular dysfunction  
  • Neural atrophy (poor outcome with HA) 
  • Dental abnormalities 

What is syphilis? 

300

DOUBLE JEOPARDY
Conductive, sensorineural, or mixed hearing loss of any degree

  • May be associated with cochlear otosclerosis or damage to the ossicular chain
  • Increases susceptibility to fractures, bone deformations, or growth abnormalities
  • Symptoms usually begin between age 5-15

What is Friedreich ataxia? 

300
  • Primarily CHL (68%) related to auricular anomalies and cleft, 14% SNHL, 18% mixed 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
  • Craniofacial features, cleft lip/palate
  • May be developmentally delayed 

What is DiGeorge sequence? 

300

1. SNHL (normal to profound, unilateral or bilateral, can be progressive) 

2. Autosomal dominant syndrome

3. Pigmentation deficiencies in hair, skin and eyes (white forelock, pale blue 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 
  • Babies: weak muscles, slow motor development
  • Older children: Taller than average, low energy, abnormal puberty 

What is Klinefelter syndrome (XXY)? 

400
  • Progressive SNHL
  • Most common infectious virus
  • Can cause developmental delay
  • Can cause 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
  • X-linked non-syndromic dominant SNHL
  • motor and sensory neuropathy
  • nephritis (kidney inflammation)
  • foot deformities

What is Charcot-Marie-Tooth? 

400
  • Unilateral conductive hearing loss due to underdeveloped ear
  • Abnormal development of one side of the face, this is one of the characteristics of Goldenhar syndrome 
  • Underdevelopment may result in microtia, atresia, stenosis, preauricular skin tags 

What is hemifacial microsomia?

400
  • Mild hearing loss at first and slowly progressive (SNHL), stabilizing around 35 years old
  • Vascular abnormalities in cochlea 
  • Retinal detachment (often born blind)
  • Possible mental retardation
  • A rare X-linked genetic disorder due to mutations in the NDP gene

What is Norrie syndrome? 

400
  • Sensorineural hearing loss begins in early life, gets worse over time. Profound SNHL by age 10
  • X-linked syndrome
  • Behaviour problems: Children can be aggressive or paranoid 
  • Cortical deterioration and related cognitive issues
  • Vision problems develop early in life
  • Muscle dystonia, coordination issues

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
  • Cardiac problems
  • Also known as Turner syndrome in Men

What is Noonan syndrome?

500
  • Conductive, sensorineural, or mixed hearing loss
  • Abnormal pharyngeal arch development
  • Palate, heart, and facial involvement, not all identifying features required to be present
  • 22q11 deletion
  • Minor learning problems and speech and feeding problems.

What is velocardiofacial syndrome? 

500
  • Congenital severe to profound bilateral sensorineural hearing loss
  • 3rd most common autosomal recessive syndrome
  • Long QT syndrome (electro cardiac problem)
  • Syncopal episodes (fainting)
  • Heart problems with risk of sudden death

What is Jervell and Lange-Nielsen syndrome? 

500

Collagen gene mutation characterized by renal disease and eye abnormalities

  • HL: mild to severe SNHL caused by inner ear abnormalities; notch at 2 – 4 kHz; congenital or post-lingual (late teen/young adult)
  • Light coloured retina, thickening of skin, high protein levels in their urine, kidney problems, vision problems 
  • Males have more significant severity of features than females

What is Alport syndrome?