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CMSD5260 Hearing Disorders > Genetic Hearing Loss with Other Abnormalities > Flashcards

Genetic Hearing Loss with Other Abnormalities Flashcards

1
Q

What is Otopalatodigital?

A

X-linked recessive disorder that affects bone and facial structures
Full expression in males

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2
Q

What are the features of Otopalatodigital? (5)

A
  1. Ear anomalies
  2. Cleft palate
  3. Finger and toe anomalies
  4. Craniofacial anomalies
    Broad nasal root
    Pierre Robin sequence
  5. CHL (ossicular malformations)
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3
Q

What is Crouzon?

A

Crouzon syndrome, also known as Craniosynostosis, is a genetic syndrome in which the seams of the skull fuse abnormally.

AD
FGFR2 mutation
Midface hypoplasia
Hyperterlorism, exorbitism
CP
CHL, mixed HL
Ossicular anomalies

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4
Q

How can we fix Crouzon syndrome?

A

Surgical craniofacial reconstruction

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5
Q

What is Apert syndrome? (acrocephalosyndactyly)

A

Apert syndrome, also known as acrocephalosyndactyly, is a genetic disorder that causes the fusion of the skull, hands, and feet bones.

Autosomal Dominant
Sporadic (>90%)
FGFR2 mutation
Craniosynostosis
Similar to Crouzon
CHL
Syndactyly

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6
Q

What is Syndactyly?

A

Fused digits

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7
Q

What is Osteogenesis Imperfecta

A

Systemic disorder of connective tissue with abnormal bone formation
AD or AR
Spontaneous mutation

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8
Q

What are the symptoms of Osteogenesis Imperfecta? (8)

A

Bone fractures
Low muscle tone
Loose joints
Blue sclera
Brittle teeth
Short stature
Respiratory problems
CHL, SNHL, mixed

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9
Q

What is the Marfan syndrome?

A

Marfan syndrome is a genetic condition that affects connective tissue, which provides support for the body and organs

AD
Tall, long-limbed
Pectus excavatum
Scoliosis
Joint laxity
Mixed HL

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10
Q

What is Hemifacial Microsomia?

A
  • Hemifacial microsomia is a congenital condition in which the tissues on one side of the face are underdeveloped
  • Aka oculoauriculovertebral spectrum
    Goldenhar syndrome refers to severe form of hemifacial microsomia
  • Branchial arch developmental anomaly
  • Can be bilateral
    Differing degrees in each half
  • May occur with other syndromes
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11
Q

What is Goldenhar Syndrome?

A

Goldenhar syndrome refers to severe form of hemifacial microsomia

A rare congenital condition characterized by abnormal development of the eye, ear and spine

Sporadic and AR

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12
Q

What are features of Goldenhar syndrome?

A

Hemifacial microsomia
Preauricular pits/tags
Epibulbar dermoids
Colobomas
Cervical spine fusion

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13
Q

What is Usher syndrome?

A

Usher syndrome is a rare genetic disease that affects both hearing and vision. It causes deafness or hearing loss and an eye disease called retinitis pigmentosa (RP).

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14
Q

What can Usher syndrome cause?

A
  • AR
  • Bilateral SNHL
  • Retinitis pigmentosa
  • Vestibular defects
  • Diagnosis
    Electroretinography
  • 5% of congenital HL
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15
Q

What is Retinitis pigmentosa?

A

Retina becomes pigmented/stained and scarred
Sensory cells of the eyes gradually deteriorate
Leads to tunnel vision and eventual blindess

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16
Q

What are the effects of Usher on hearing?

A

No cure for eye and balance problems
Early CI for SNHL
Supportive: braille, counseling, sign language,…

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17
Q

What is stickler?

A

Aka arthro-ophthalmopathy
AD
Collagen mutation (COL2A1 gene)

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18
Q

What are anomalies seen in Stickler?

A
  • Craniofacial
  • Arthropathic
  • Hearing loss
  • Craniofacial
    Pierre Robin sequence (30%)
    Micrognathia
    Cleft palate
  • Midface hypoplasia
  • Ocular anomalies
    Myopia
    Glaucoma
    Cataracts
    Retinal detachment
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19
Q

What are Musculoskeletal anomalies in Stickler? (5)

A

Osteoarthritis
Joint hypermobility
Vertebral abnormalities
Scoliosis
Marfanoid habitus (tall, thin)

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20
Q

What are the hearing loss types from Stickler?

A

Mild-moderate SNHL (80%)
Mixed (15%)
CHL due to eustachian tube dysfunction related to cleft palate
(Ossicular abnormalities)

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21
Q

What is Norrie?

A
  • X-linked recessive disorder
    *Eye
    Cataracts
    Leukocoria
    Blindness
  • Ear
    Progressive SNHL
  • Developmental problems
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21
Q

What is Norrie?

A
  • X-linked recessive disorder
    *Eye
    Cataracts
    Leukocoria
    Blindness
  • Ear
    Progressive SNHL
  • Developmental problems
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22
Q

What is KID syndrome?

A

Keratitis
Ichthyosis
Deafness

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23
Q

What is Keratitis?

A

Inflammation leading to destruction of cornea (may cause blindness)

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24
Q

What is Ichthyosis?

A

Generalized skin disorder of dryness, roughness and scaliness (red thickened skin)

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25
Q

Which HL is associated with KID?

A

Deafness
SNHL (usually severe/profound)

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26
Q

What is Waardenburg syndrome?

A

Group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes.

AD, variable penetrance (some AR)
Most common type of syndromic AD SNHL
2% of congenitally deaf children

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27
Q

What are the features of Waardenburg?

A

White forelock
Hypoplastic alae
Short philtrum
Heterochromia irides
Synophyrs
Dystopia canthorum

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28
Q

What HL is associated with Waardenburg?

A

SNHL
Mild to profound
Unilateral or bilateral
Typically not progressive
Amplification or CIs
4 types

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29
Q

What constitutes LEOPARD?

A

Lentigines
ECG abnormalities
Ocular hypertelorism
Pulmonary stenosis
Abnormal genitalia
Retarded growth
Deafness

30
Q

What is Lentigines?

A

Multilple brown skin lesions

31
Q

What are ECG abnormalities?

A

Cardiac conduction problems

32
Q

What is Ocular hypertelorism?

A

Widely set eyes

33
Q

What is special about Dalmatians? (3)

A

Most are born pure white and develop colored patches
High susceptibility to rashes, skin diseases and irritations
Genetic integumentary disorder

34
Q

What can happen to the hearing of Dalmatians?

A
  • Deafness is common
    8% bilateral SNHL
    20% unilateral SNHL
  • It is recommended that all Dalmatian puppies undergo ABR
35
Q

What are Metabolic Disorders? (3)

A

Any disorder that involves an alteration of the normal metabolic process
- Common example-diabetes

36
Q

What is Mucopolysaccharidosis?

A
  • Lysosomal storage disorder
  • Lysosome-carries enzymes that break down large proteins
  • Defect leads to only partial breakdown of polysaccharides
37
Q

What are enzymes?

A

Enzymes are proteins that help speed up metabolism, or the chemical reactions in our bodies. They build some substances and break others down. All living things have enzymes

38
Q

What are polysaccharides?

A

. They are long chains of carbohydrate molecules, composed of several smaller monosaccharides (sugar, glucose etc.)

39
Q

What are the 7 types of Mucopolysaccharidosis?

A
  • Depends on what enzyme is defective
  • I and II most common
  • Most have significant eustachian tube dysfunction
40
Q

What are the features of Hunter (I) and Hurler (II) and Mucopolysaccharidosis? (6)

A

Dwarfism
Short neck
Macroglossia
Large tonsils/adenoids
Craniofacial anomalies (coarse facial features)
Airway obstruction (OSA)

41
Q

What are the conditions in Hunter (l)?

A

AR
Progressive, moderate SNHL
CHL

42
Q

What are hearing disorders in Hurler (II)?

A

X-linked
50% moderate SNHL
CHL

43
Q

What is Pendred syndrome?

A

AR (chromosome 7)
Abnormal thyroid gland metabolism-tyrosine iodination defect leading to abnormal thyroxine biosynthesis

Presents with:
Thyroid goiter
SNHL

44
Q

What can we see at the Vestibular Aqueduct in Pendred?

A
45
Q

What is a typical case in Pendred?

A

5 yo boy who passed newborn hearing screen
3 episodes of fluctuating hearing loss (unilateral or bilateral)
Goiter appeared around age 8 yo
Hearing loss progress to bilateral severe SNHL

46
Q

What is Turner’s syndrome?

A

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing

Karyotype-45 XO (monosomy)
Increased incidence of SNHL and CHL

47
Q

What HL can Turner cause?

A
  • CHL
    Eustachian tube dysfunction (shorter and more horizontal)  OM
    EAC anomalies
    Many will require ear tubes
  • SNHL
    Usually mild to moderate
    Amplification
48
Q

What are the symptoms of Jervell and Lange-Nielsen?

A
  • AR
  • Bilateral SNHL
    Profound and high frequencies
    Stria vascularis defect
  • Prolonged QT on ECG
    Recurrent syncope
    Sudden death
    Family history
49
Q

What are features of Jervell and Lange-Nielsen?

A
  • Extremely rare
  • Over 50% of untreated patients die of cardiac disease before age of 15 years
  • Hearing loss may be the only initial sign
    ECG is ordered on all congenital SNHL
  • Management
    Pacemakers, beta-blockers
    Hearing aids/CI
    Genetic counseling
50
Q

What is Alport syndrome?

A

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function

51
Q

What are characteristics of Alport?

A
  • X-linked recessive (80%)
    Type IV collagen abnormality
    Males more severely affected
    AR (20%)
  • Collagen
    Connective tissue that provides support and strength
    Type IV collagen found in kidneys, ears, and eyes
52
Q

What are the features of Alport Syndrome? (3)

A
  • Progressive SNHL
    Onset usually during 2nd decade of life
  • Renal
    Progressive glomerulonephritis
  • Ocular
    Myopia, cataracts
  • Normal appearance
53
Q

What is Branchio-Oto-Renal? (2)

A
  • Branchial arch developmental abnormality
  • 1st and 2nd arches are involved
  • Branchial cleft cysts and fistulae common (presents as neck masses)
54
Q

What abnormalities present with Branchio-Oto-Renal condition?

A
  • Aka Melnick Fraser
  • AD with variable expression
  • Pre-auricular pits, tags
  • External ear deformities
    Microtia
    Prominent ears
55
Q

What hearing features do we see from Branchio-Oto-Renal conditions?

A
  • Renal
    Mild dysplasia to agenesis
  • SNHL, CHL, or mixed
  • Ossicular anomalies
  • Cochlear anomalies (Mondini)
56
Q

What is Trisomy 21?

A

Down Syndrome
From Extra chromosome 21

Increased risk with advanced maternal age (increasing incidence)
Most common cause of intellectual disability
Most common chromosomal abnormality

57
Q

What is the incidence and life expectancy of Trisomy 21?

A
  • Incidence
    Overall, 1 in 800 live births
    Mother < 35 yo, 1 in 1500
    Mother > 35 yo, 1 in 100

*Life expentancy
50% survive into 50’s
15% survive into 60’s

58
Q

What are the craniofacial features of trisomy 21?

A

Brachycephaly
Flat occiput
Epicanthal folds
Upslanting palpebral fissures
Short, flat, small nose
Small, low-set ears
Short neck
Brushfield spots

59
Q

How can Trisomy 21 affect the Eustachian Tube?

A
  • Abnormal craniofacial skeleton
  • COME -> CHL
  • CHL from other causes (small EAC, ossicular anomaly)
  • SNHL
    Many will get ear tubes
60
Q

What is the CHARGE acronym?

A

Coloboma
Heart defects
Atresia choanae
Retarded growth
Genitourinary anomalies
Ear anomalies

61
Q

What causes CHARGE?

A
  • Defect in CHD7 gene on chromosome 8
    Other defects and causes possible
  • Rare disorder (1 in 10,000)
  • Prognosis
    25% die within first 3 months
    Tremendous individual variability
    Early detection and treatment leads to improved function
62
Q

What is Coloboma?

A
  • Defect in structures of the eye
  • Developmental anomaly resulting from the failure of closure of certain structures (eyelids, lens, iris, optic disc)
63
Q

What is Choanal atresia?

A
  • No opening from nasal cavity to nasopharynx
  • Bilateral atresia in newborns leads to airway obstruction
64
Q

What is Ear anomalies?

A
  • External, middle, and inner ear problems
  • CHL, SNHL or mixed
65
Q

What do CHARGE-Ear Anomalies cause in the external ear?

A

Microtia, cup/lop ears, malposition

66
Q

What do CHARGE-Ear Anomalies cause in the Middle ear?

A
  • Absent/abnormal ossicles and oval/round windows
  • Middle ear effusions
67
Q

What do CHARGE-Ear Anomalies cause in the Inner ear?

A

Hypoplasia of CN7, cochlea
Temporal bone anomalies

68
Q

What do CHARGE-Ear Anomalies cause in hearing?

A
  • Prevalence ≥ 90%
  • Usually mixed (CHL + SNHL)
    Mild to profound
    May be progressive
    Most have sloping loss greatest in high frequencies
69
Q

How do CHARGE anomalies affect Hearing Aids?

A
  • Difficulty fitting earmolds due to external ear malformations and small EAC
  • Chronic infection or otorrhea may also prevent hearing aid use
70
Q

What is Neurofibromatosis (Type 1)?

A
  • Autosomal dominant
    Neurofibromin gene (NF1) on chromosome 17
    Half from new mutation
  • AD-variable expression
  • Better prognosis than Neurofibromatosis Type 2
71
Q

What does Neurofibromatosis, Type 1 cause on the body?

A

Café au lait spots
Cutaneous neurofibromas
Plexiform neuromas
Lisch nodules
Axillary or perineum freckling (Crowe sign)
Optic gliomas
Bone abnormalities

72
Q

What is Neurofibromatosis, Type 2?

A
  • Autosomal dominant
    NF2 (Merlin) gene on chromosome 22
    Approximately 10% of all individuals with neurofibromatosis
  • Significant morbidity, decreased lifespan
73
Q

What does Neurofibromatosis, Type 2 cause?

A
  • Café au lait spots
  • Schwannomas
    Bilateral acoustic neuromas
    Spinal cord
    Nonvestibular
  • Subcapsular cataracts
  • Meningiomas

CMSD5260 Hearing Disorders (12 decks)

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