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5310 - Embryology > syndromic hearing disorders > Flashcards

syndromic hearing disorders Flashcards

1
Q

syndromic condition categories

A
  1. External ear changes
  2. Eye abnormalities
  3. Renal
  4. Cardiac
  5. Endocrine
  6. musculoskeletal
  7. Neurological
  8. Metabolic
  9. Integumentary

23 total disorders

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2
Q

syndromic conditions associated with external ear changes

A
  • treacher collins
  • branchio-oto-renal (BOR)
  • oculo-auriculo-vertebral (OAV)
  • CHARGE syndrome
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3
Q

treacher collins syndrome

A

autosomal dominant (AD) 1st and 2nd brachial arch syndrome caused by deletions or nonsense mutations of the gene that codes treacle protein

  • Treacle is a protein plays a crucial role in the development of face structures derived from brachial arch 1 & 2
    majority of
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4
Q

treacher collins syndrome characteristics

A
  • receding chin
  • tears in eye structure
  • large fish-like mouth
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5
Q

audiologic findings in treacher collins

A

malformed pinna, atresia (no ear canal), absent or malformed ossicles, absence of ME cavity, mild to moderate conductive HL

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6
Q

treatment approach for treacher collins

A

cleft palate repair, BAHA, speech therapy and educational intervention

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7
Q

treacher collins differential diagnosis

A

oculo-auriculo-vertebral syndrome (OAV)

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8
Q

branchio-oto-renal (BOR) syndrome

A

AD inheritance of HL with a transcription factor that is involved within the inner ear and kidney cell development
- cysts on kidneys and facial anomalies

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9
Q

audiologic findings of BOR

A
  • conductive, SNHL, or mixed HL (most common)
  • branchial cysts/fistulas
  • malformation of pinna
  • EAC stenosis (complete closure)
  • ossicular deformities
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10
Q

BOR vs Alports

A

BOR: cystic kidneys
Alports: inflammation of kidneys

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11
Q

oculo-auriculo-vertebral (OAV)

A

complex of 3 rare congenital disorders resulting in unilateral malformation of craniofacial structures from the 1st and 2nd arches with multifactorial inheritance
- the mildest of the combined 3 complex disorders

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12
Q

what are the 3 complex rare genetic conditions that are believed to be related to one another?

A
  • Goldenhaar (most severe form)
  • Hemifacial Microsomia (intermediate form)
  • OAV (mildest form)
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13
Q

OAV characteristics

A

asymmetrical facial abnormalities, cardiac anomalies, vertebral anomalies and deafness or blindness

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14
Q

OAV audiological findings

A

pinna anomalies:
- tags, microtia, EAC stenosis
conductive HL
SNHL (rare)

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15
Q

CHARGE association syndrome

A

most cases are sporadic however could be AD
C: coloboma (tear in eye structure)
H: heart defects
A: atresia (narrowing) of nasal conchae
R: Retardation (delay) of growth & development
G: Genital abnormalities & underdeveloped sexual organs (infertile)
E: Ear abnormalities & deafness:

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16
Q

audiologic findings of CHARGE

A
  • external ear anomalies
  • ossicular malformations with ET dysfunction - mondini (incomplete cochlea), considered to be a deaf/blind syndrome
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17
Q

syndromic conditions associated with eye disease

A

usher syndrome and norrie syndrome

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18
Q

usher syndrome

A

affects the ears and eyes with 3 types and is the most common AR syndromic HL
-most mutations lead to the loss of hair cells in the inner ear and gradual loss of rods and cones within the retina (retinitis pigmentosa)

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19
Q

type 1 usher’s

A

congenital severe to profound SNHL
- traditional amplification is ineffective
- abnormal vestibular and gait ataxia
- delayed motor milestones

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20
Q

type 2 usher’s

A

milder than type 1
- congenital mild to severe SNHL
- hearing aids are effective
- normal vestibular function

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21
Q

type 3 usher’s

A

RARE
- progressive SNHl w/ progressive vestibular dysfunction
- possible founder effect (small gene pool due to consanguinity)

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22
Q

usher syndrome differential diagnosis

A

norrie syndrome & other disorders with retinitis pigmentosa (RP) and SNHL

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23
Q

explain some other common syndrome’s that have retinitis pigmentosa (RP) & hearing loss

A
  • hallgren syndrome: ataxia, pigmentary retinopathy and SNHL
  • cockayne syndrome: associated with dwarfism and motor disturbances
  • alstrum syndrome: associated diabetes mellitus
  • refsum syndrome: triad of RP, peripheral neuropathy and ataxia SNHL (asymetrical)
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24
Q

norrie syndrome

A

eyes, hearing, cognitive, & psychological issues
- x-linked recessive
- male phenotype bc males only have one x so no balance
- if it comes from dad girls will be carriers
- mutation is believed to be a deletion

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25
Q

norrie syndrome characteristics

A

-onset within the 2nd decade
-retinal detachment, congenital progressive blindess NOT caused by RP, cataracts and CNS involvement

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26
Q

audiologic findings of norrie syndrome

A

progressive moderate to severe SNHL, flat or sloping, atrophy of stria vascularis with degenerations of hair cells

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27
Q

syndromic conditions associated with musculoskeletal diseases

A

crouzon, stickler, achondroplasia and osteogenesis imperfecta

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28
Q

crouzon syndrome

A

premature closure of cranial sutures with resulting contracted skill
-AD transmission with mutations in the protein that makes fibroblast growth factors which turns cells to bone

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29
Q

crouzon syndrome characteristics

A
  • abnormal shape head
  • bulging eyes/vision problems by shallow eye sockets
  • increased space between the eyes
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30
Q

audiologic findings of crouzon

A

atresia of EAC, ossicular defomity, absent or narrow oval/round window, conductive HL is most common

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31
Q

sitckler syndrome

A

Autosomal dominant collagen disorder
- mutations involve premature stop codons (nonsense mutations)
- 3 types (type 3 has no myopia bc it’s caused by a gene not expressed in the eye)

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32
Q

sitckler syndrome characteristics

A
  • distinctive facial apperance: flat face high arched palate
  • eye abnormalities: severe myopia, cataracts & glaucoma (blindness rare)
  • joint problems
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33
Q

audiologic findings of stickler syndrome

A

mixed or pregressive high frequency SNHL

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34
Q

achondroplasia

A

form of short limbed dwarfism
-AD inheritance in familial cases but can be sporadic

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35
Q

achondroplasia characterstics

A

average trunk with short arms and legs, frontal bossing, stubby hands, bowed legs, lordotic lumbar spine, decrease in reproductive fitness

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36
Q

genotype with achondroplasia

A

homozygosity: both parents affected, lethal for offspring (AA)
Aa: dwarfism
aa: normal

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37
Q

audiologic findings with achondroplasia

A

high risk of ear infections with some conductive HL and otosclerosis is also reported

38
Q

osteogenesis imperfecta

A

generalized connective tissue disorder characterized by bone fragility (breaking bones easily)
-AD inheritance with mutation in collagen genes
-bone fragility, blue sclera and cardiovascular problems

39
Q

audiologic findings with oteogenesis imperfecta

A

conductive or mixed HL, begins in late teens and progresses to profound deafness, tinnitus and vertigo often present

40
Q

syndromic conditions associated with renal disease

A

alport syndrome

41
Q

alport syndrome

A

nephritis (inflamed kidney ) and SNHL
- ocular abnormalities
-x linked dominant & recessive
- can be AR or AD but rare

42
Q

audiologic findings with alport syndrome

A

bilateral SNHL, progressive

43
Q

what must be present for a diagnosis of alport syndrome

A

3 of the following :
-positive family history of hematuria with or without renal failure
-electron microscope evidence of renal disease on renal biopsy
-characteristic ophthalmologic signs
-high frequency SNHL progressive during childhood

44
Q

syndromic conditions associated with neurologic system diseases

A

auditory neuropathy spectrum disorder (ANSD), charcot-marie-tooth disease, friedreich ataxia, hereditary sensory and autonomic neuropathy type 1 (HSAN1) and neurofibromatosis (NF)

45
Q

ANSD

A

functional OHC but problems present with CN 8 and the synapses results in present OAE’s but absent ARTs or ABRs
-majority are bilateral but it can be unilateral
-can be due to environmental, nonsyndromic, syndromic and mitochondrial inheritance

46
Q

how does ANSD impact speech

A

severe impairment on speech perception because of the disruption of CN 8 firing
-within noise is highly affected
-abnormal speech testing

47
Q

what would you do if you suspect a child has ANSD

A

you would want to do reflexes & ABR. Reflexes will be absent and ABR will be abnormal. you would then want to do OAE’s bc w/ ANSD OAE’s are normal

48
Q

audiologic findings of ANSD

A

-important to test OAE’s, reflexes and speech as the audiogram is useless
-no speech in noise
-trial for amplification
CI’s are the most successful intervention for ANSD patients

49
Q

charcot-marie-tooth (CMT) disease

A

progressive neurodegenerative disease characterized by many nerves in different parts of the body being affected (polyneuropathy)
-variable transmission (all transmssions) a deletion or point mutation occurs
-100% penetrance

50
Q

what are the clinical features of charcot marie tooth disease

A

absent limb reflexes
motor and sensory nerves affected
muscle wasting up to the knees and elbows
progressive HL

51
Q

audiologic findings with CMT disease

A

SNHL with onset in childhood or adulthood, slowly progressive and may be caused by neuropathy due to demyleination of CN 8

52
Q

friedreich ataxia

A

inability to coordinate voluntary muscular movement
-AR inheritance and gene is mapped to a protein that is essential for proper mitochondrial function & caused by triplet expansion

53
Q

what are the characteristics of friedrich’s ataxia

A

incoordination of limb movements
dysarthria
nystagmis

54
Q

what is sufficient for a diagnosis for friedreich ataxia

A
  • hypoactive knee and ankle reflex, - progressive cerebellar dysfunction
  • manifest before adolescence
55
Q

audiologic findings for friedrich ataxia

A

CN 8 and 2 that cause HL and visual impairment

56
Q

hereditary sensory and autonomic neuropathy, type 1 (HSAN1)

A

neurodegenerative AD disorder
-early onset dementia, sensory neuropathy (loss of myelinated fibers) and early death is often reported

57
Q

neurofibromatosis (NF)

A

AD inherited condition
- 2 types
- high penetrance & variable expressivity meaning if they have the gene it will show more frequently, variable phenotypic characterstics

58
Q

neurofibromatosis (NF 1)

A

cafe au lait spots (more than 6)
pigment in the eyes
tumors on or under the skin

  • as you get older the number of these tumors will increase
59
Q

neurofibromatosis (NF 2)

A

bilateral schawnoma
progressive visual loss
acoustic neuromas
devastating communication disorder

60
Q

management of NF-2

A
  • surgery leading to destruction of CN 8 which causes the patient to go deaf
  • CI’s are not an options bc no nerve to stimulate so they will use auditory brainstem implant (ABI) instead as it bypasses the damaged nerve
61
Q

syndromic conditions associated with cardiac system disease

A

Jervell & Lange-Nielsen Syndrome (JLNS)

62
Q

JLNS

A

cardiac and hearing syndrome due to potassium channel genes being affected
-AR syndromic HL
-long QT interval on EKG, congenital deafness, sudden death, syncopal episodes (fainting)

63
Q

what happens when JLNS acts AD instead of AR

A

wont have HL but may die suddenly due to cardiac problems

64
Q

audiologic findings with JLNS

A
  • congenital deafness
  • complete degeneration of organ of corti
  • loss of sensory hair cells
65
Q

differential diagnosis of JLNS

A

Ward-Romano Syndrome
- has long QT but normal hearing

66
Q

syndromic conditions associated with endocrine disorders

A

pendred and DIDMOA syndrome
-EVA by association with pendred

67
Q

pendred syndrome

A

AR inheritance which makes the variability rare
-hypothyroidism, delayed onset, variable expressivity, EVA

68
Q

audiologic findings for pendred syndrome

A

profound and progressive SNHL
-variable onset
-more sever in high frequncies
-abnormality of bony labyrinth
-abnormally wide or absent vestibular structures

69
Q

enlarged vestibular aqueduct (EVA)

A

the endolymphatic duct and sac grows too large, leading to the fluid being affected
-due to same gene as seen within pendred’s
-variable audiologic phenotypes
-children can pass NBHS even if they have this
-SNHL

70
Q

DIDMOAD syndrome

A

diabetes insipidus, diabetes mellitus, optic atrophy, deafness (SNHL)
-AR inheritance
-rare condition when kidneys cannot prevent exertion of water

71
Q

audiologic findings in DIDMOAD

A

bilateral SNHL with slowly progressive HL
-onset in 2nd decade

72
Q

syndromic conditions associated with metabolic disorders

A

mucopolysaccharidosis (MPS) and biotinidase deficiency

73
Q

mucopolysaccharidosis (MPS)

A

group for lysosomal storage diseases caused by various enzyme deficincies that catalyze the breakdown of glycosaminoglycans
-AR except MPS2 which is x-linked
-progressive course

74
Q

audiologic findings with MPS

A

conductive HL caused by recurrent upper respiratory tract infections and serous otitis media

75
Q

MPS 1H (hurler syndrome)

A

recognized during infancy when patients are unusually large (abnormal growth)
-coarse facial features, corneal clouding, skeletal deformities, recurrent otitis media and HL, intellectual disability, death by around 10 years old

76
Q

MPS 2 (hunter syndrome)

A

mild to severe form
-x linked transmission
- MPS IIA: more common severe form with rapid intellectual deterioration, coarsening of features, death by 10-15 years of age
-MPS IIB: less common survival to adulthood is possible

77
Q

biotinidase deficiency

A

AR disorder with a mutation in the biotinidase gene and is treatable with supplements of biotin
-seizures, hypertonia and ataxia, skin rash, deafness

78
Q

audiologic findings with biotinidase deficiency

A

SNHL and visual impairment are permanent and not reversible

79
Q

syndromic conditions associated with integumentary system disease

A

waardenburg syndrome

80
Q

waardenburg syndrome

A

most common AD syndromic HL and caused by hereditary deficit of neural crest cells
- 4 main types
WS1,WS2, WS3, WS4

81
Q

WS1

A

HL
Dystopia canthroum
high broad nasal root
- white forlock

82
Q

WS2

A

same as type 1 but w/ absence of dystopia canthroum (their eyes don’t look closed)

83
Q

WS3

A

Klein-Waardenburg
RARE
- they have upper limo skeletal abnormalities in addition to everything else

84
Q

WS4

A

Shah-Waardenburg
- severe form oh Hl (deafness)
- absence of dystopia canthroum
- not able to empty gut (constipation)

85
Q

audiologic findings of waardenburg syndrome

A
  • bilateral or unilateral HL w/ variable severity
  • vestibular abnormalities
  • degeneration of organ of corti
  • thickening of basal membrane
86
Q

ranking of most common autosomal dominant associated HL disorders

A
  1. waardenburg syndrome
  2. BOR
87
Q

ranking of most common autosomal recessive associated HL disorders

A
  1. usher
  2. pendred’s
  3. JLNS
88
Q

what are some common characteristics of chromosome disorders

A

intellectual disability, heart disease/defect and palate/jaw issues

89
Q

what is one commonality within audiologic fundings for chromosomal disorders

A

pinna abnormalities

90
Q

what are the common branchial arch syndromes

A

treacher collins, BOR, OAV

91
Q

what are some common characteristics with branchial arch syndromes

A

pinna malformations, conductive HL, facial anomalies to variable extents

5310 - Embryology (11 decks)

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