Diseases & Syndromes

Question 1

Alport Syndrome

Answer 1

X-linked recessive

SSx: Pregressive HL usually in teenage years, hematuria w/wo renal failure,

Question 2

Waardenburg Syndrome

Answer 2

AD

SSx: SNHL, White forelock, dystopia canthorum, synophrys, heterochromic iritis

Question 3

Usher Syndrome

Answer 3

AR; MCC AR syndromic deafness

SSx: Vertigo, Progressive retinitis pigments,

Question 4

Cogan Syndrome

Answer 4

Unknown Transmission
Autoimmune Etiology
SSx: BL fluctuating SNHL & Vertigo, interstitial keratitis, Cardiopulmonary symptoms
Tx: Corticosteroids, immunomodulating drugs

Question 5

Branchio oto renal Syndrome

Answer 5

AD:
SSx: pinna deformities, Mixed HL, kidney abnormalities.

Question 6

Pendred Syndrome

Answer 6

AR: Pendred gene, SLC26A4, (PDS), Abnormal iodine transport, trapped in Thyroid, Cochlea
SSx: profound SNHL, Euthyroid Goiter (around age 8)
Dx: Perchlorate discharge test

Question 7

Gradenigo Syndrome

Answer 7

Petrous Apicitis with inflammation of surrounding structures

Triad: Otorrhea, Abducens palsy, and retro-orbital pain

Question 8

Goldenhard Syndrome

Answer 8

Hemifacial Microsomia
Sporadic inheritance
SSx: Affecting branchial arch 1 & 2, sparing Facial nerve, hearing loss, preauricular appendages, coloboma, mild intellectual disabilities

Question 9

Mobius Syndrome

Answer 9

Underdevelopment of CN VI & VII

SSx: congenital facial nerve paralysis, strabismus. Normal intellect.