ENT Features in Down Syndrome

Question 1

Ears

Answer 1

• Small, low set pinna, ear canal stenosis
• Conductive hearing loss (wax, otitis media with effusion, cholesteatoma, ossicular abnormalities, up to 80% dehisced facial nerve)
• Sensorineural hearing loss - 20% patients <20 years, 55% patients >20 years (labyrinthine hypoplasia, small bony island lateral semicurcular canal)

Question 2

Nose

Answer 2

• Flat
• Nasal congestion (↑URTI)
• Drooling
• Small narrow nasopharynx (?OME)
• Sinus hypoplasia (↑sinonasal disease)
• Hypotonicity of pharynx

Question 3

Throat

Answer 3

• Macroglossia
• OSA
• No lip seal
• Drooling
• Subglottic narrowing
• Recurrent croup (↓immunity reduced/immature T and B cell function)
• Smaller ET tube required

Question 4

Neck

Answer 4

• Atlantoaxial instability (important for operative positioning)
• Simian crease
• Oblique palpebral fissures
• Hypotonia
• Hyperflexability
• Cardiac abnormalities
• Variable IQ
• Epicanthal folds