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Phenotypic Analysis of Patients with SMC1A Mutations and Epilepsy

the Cornelia de Lange Syndrome (CdLS) Foundation USA
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Typically, individuals with CdLS have ears that are set lower, are hairy and are atypically formed. Some individuals may have small and narrow ear canals.

Recommendation(s)

Ears and hearing

R39
Hearing should be assessed in individuals with CdLS at an early age and should be followed up over time. Those with severe sensorineural hearing loss should be assessed for auditory neuropathy.
R40
Regular eye (ophthalmologic) and ear, nose and throat (otolaryngologic) evaluations are recommended in adults with CdLS.
R41
Otitis media (middle ear infections) with fluid build up and sinusitis in individuals with CdLS should be considered and treated according to the national guidelines for the general population.


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