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ENT Syndromes

Terms in this set (27)

Alport Syndrome
XLD, hereditary glomerulonephritis with nerve deafness, Type IV collagen.
Apert's syndrome
Syndactyly • All other features of Crouzon's syndrome
Branchio-oto-renal syndrome
• Bronchial fistulas/cysts • Malformed pinnae with preauricular pits or sinuses • Renal abnormalities Conductive or mixed hearing loss
Churg-Strauss syndrome.
asthma, fever, eosinophilia, ethmoidal polyps, vasculitis and granuloma.
Cogan's disease
Localized manifestations of PAN non syphilitic interstitial keratitis SNHL with vertigo
Crouzon's syndrome (craniofacial dysostosis)
• Frog eyes (exophthalmos with divergent squint) • Hypertelorism • Parrot-beak nose • Mandibular prognathism • Premature closure of cranial sutures with mental retardation Conductive or mixed hearing loss
Down's syndrome (Trisomy 21)
• Microcephaly • Mental retardation/ delayed development • Short stature • Epicanthal folds • Stenosis of ear canol • High incidence of serous otitis media • At lanta-axial instability
Goldenhar's syndrome (Facio -auriculo -vertebral dysplasia) or (oculo-auriculo-vertebral (OAV] syndrome)
• Facial asymmetry • Low set ears, atresia of ear conal • Cardiac abnormalities • Preauricular tags/ pits • Hemivertebrae in cervical region • Epibulbar dermoid • Coloboma of upper lid Mixed or Conductive
Jervell and Lange- Nielson's syndrome
• Repeated syncopal attacks • Prolonged QT interval in ECG SNHL
Kallman syndrome
anosmia and congenital hypogonadism
Kartagener's syndrome
bronchiectasis sinusitis, situs inversus and ciliary dyskinesis
Klippel Feil syndrome
• Short neck • Fused cervical vertebrae • Spino bifida • Atresia of ear conal SNHL or mixed
Melkersson's syndrome
triad of facial paralysis, swelling of lips and fissured tongue
Mendelson syndrome
Chemical Pneumonia, also known as Mendelson syndrome, is due to the parenchymal inflammatory reaction caused by a large volume of gastric contents independent of infection. If the pH of the aspirated fluid is less than 2.5 and the volume of aspirate is greater than 0.3 mL/kg of body weight (20-25 mL in adults).
Pendred syndrome
• Goitre (non-toxic) usually evident before puberty • Perchlorate discharge test shows defect in organic binding of iodine SNHL
Pierre -Robin sequence
• Micrognathia • Glossoptosis • Cleft palate • Often part of Stickler's syndrome SNHL Conductive loss
Prune-Belly syndrome or Eagle-Barrett syndrome
Deficiency of the abdominal muscle is associated with Prune-Belly syndrome or Eagle-Barrett syndrome.
Ramsay - Hunt syndrome (Herpes zoster oticus)
There is facial paralysis a long with vesicular rash in the external auditory canal and pinna. There may also be anaesthesia of face, giddiness and hearing impairment due to involvement of Vth and VIIlth nerves.
Refsum's disease
phytanic acid oxidase deficiency and phytanic acid storage disease Retinitis pigmentosa peripheral neuropathy cerebellar ataxia autosomal recessive SNHL 10yrs and above
Steart Trevo syndrome
Lymphangiosarcoma
Stickler's syndrome
• Small iaw • Cleft palate (Pierre-Robin sequence) • Myopia > retinal detachment • Cataract • Juvenile onset arthritis Conductive or SNHL
Treacher-Collins syndrome (mandibulofacial dysostosis)
• Antimongoloid palpebral fissures • Coloboma of lower lid • Hypoplasia of mandible and molar bones • Malformed pinna and meatal atresia • Malformed malleus and incus (stapes normal)(conductive hearing loss)
Usher syndrome
• Retinitis pigmentosa • Night-blindness SNHL
Van der Hoeve's syndrome
• Osteogenesis imperfecta with history of fractures • Blue sclera • Hearing loss (delayed onset)Conductive, SNHL or mixed (like otosclerosis
Waardenburg's syndrome
• White forelock • Heterochromia iridis • Vitiligo • Dystopia canthorum SNHL
Wildervanch syndrome
• Klippel-Feil syndrome • SNHL • CN VI Paralysis
Young's syndrome
Ethmoidal polyps, sinopulmonary disease and azoospermia.
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