Genetic & Non genetic PATH Flashcards
(19 cards)
GJB2=DFNB1 gene (connexin-26 and -30 protein)
Autosomal recessive(70-80%)
Genetic Non syndromic (80%)
severe to profound SNHL
GJB2=DFNB1 gene (connexin-26 and -30 protein)
Autosomal dominant (20%)
Genetic Non syndromic (80%)
Delayed onset progressive SNHL
GJB2=DFNB1 gene (connexin-26 and -30 protein)
X-linked recessive (<2%)
Genetic Non syndromic (80%)
Mixed HL with stapes fixation and perilymph gusher (leaks)
Trisomy 21(Down syndrome) 长的不好
Chromosomal abnormalities
Genetic syndromic (20%)
- narrow/stenotic ear canal
- More likely to have MEE
- CHL, mixed, SNHL from ossicular abnormalities & malformation
Turner syndrome
长的不好
Chromosomal abnormalities
Genetic syndromic (20%)
- complete/partial absence of 2nd X chromosome in females
CHL /SNHL
CHARGE syndrome
Chromosomal abnormalities
Genetic syndromic (20%)
- Coloboma eye
- Heart defect
- Atresia of nasal blockage
- Restricted development/ growth
- Genital/urianry abnormalities
- Ear abnormalities
- Mixed HL likely due to structural abnormalities (CHL+SNHL)
Waardenburg
Syndrome 长的不好
(most common)
Autosomal dominant (50% inheritance)
Genetic syndromic (20%)
- Wide eyes (4 subtypes)
- white forelock
- change in iris pigment
- Variable types and degree of HL, typically SNHL
Branchio-oto-renal syndrome (BOR)
Autosomal dominant (50% inheritance)
Genetic syndromic (20%)
- Branchial(neck) cysts
- malformation of outer ear
- renal abnormalities
- 93% have HL that can be CHL/ mixed/ SNHL involve all 3 parts of ears
Treacher Collins syndrome (长的也不好）
Autosomal dominant (50% inheritance)
Genetic syndromic (20%)
- microtia
- malformation of ME & ossicles
- inner ear NORMAL
- commonly CHL (X SNHL: rare)
Stickler
Autosomal dominant (50% inheritance)
Genetic syndromic (20%)
- connective tissue disorder
SNHL
Neurofibromatosis type 2 (NF2)
Autosomal dominant (50% inheritance)
Genetic syndromic (20%)
- non cancerous tumor of the nervous system
- vestibular schwannoma/ acoustic neuroma (by age 30)
- SNHL: typically bilaterally & severe
Pendred syndrome
Autosomal recessive (25% inheritance)
Genetic syndromic (20%)
- large endolymphatic duct & sac
- enlarged thyroid
- may have cochlear abnormalities
- SNHL: often progressive & asymmetric
Usher syndrome
(3 types)
Autosomal recessive (25% inheritance)
Genetic syndromic (20%)
- leading cause of hearing and vision impairment
- may have vestibular issues
- Type I: bilateral severe to profound SNHL (balance issue)
- Type II: bilaterally mild to severe SNHL (no balance issue)
- Type III: bilaterally progressive SNHL (variable balance issue)
Alport syndrome
Autosomal recessive (25% inheritance)
Genetic syndromic (20%)
- abnormalities in type IV collagen
- vision abnormalities, renal disease & insufficiency
- SNHL: progressive especially HF
Jervell and Lange-Nielsen
Autosomal recessive (25% inheritance)
Genetic syndromic (20%)
- a form of arrhythmias
(congenital)
- profound bilateral SNHL
Wolfram
Autosomal recessive (25% inheritance)
Genetic syndromic (20%)
- progressive neurodegenerative disorder with diabetes 1st present
- vision loss
- pituitary gland abnormality
SNHL
Mitochondrial disease
(MELAS)
Autosomal recessive (25% inheritance)
Genetic syndromic (20%)
- multisystem diseases
- increases susceptibility to aminoglycoside ototoxicity
-MELAS: auditory neuropathy & vestibular dysfunction
- infants: no HL only brain problem
- adults: diabetes & SNHL
Goldenhar syndrome (长的不好）
no inherritance pattern
Genetic syndromic (20%)
- Facial asymmetry
- Pinna, EAC malformations, ossicular deformities
Mostly CHL, rarely SNHL (could be unilateral due to asymmetry)
Enlarged vestibular aqueduct (EVA)
Structural (congenital 80%)
- Fluctuating or progressing SNHL(could be sudden) with increased intracranial pressure (avoid contact sports/pressure changes)
- Can develop pathological third window causing mixed HL now with the pseudo conductive component
