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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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Physical function is usually remarkably good in individuals with CdLS who have limb abnormalities. Therefore, physical therapy (physiotherapy) or surgical procedures are usually not required. 

Prosthetic devices may be used to aid physical function, however, individuals with CdLS may find difficulty tolerating them.

Recommendation(s)

Upper limb abnormalities:

R43
As function is often remarkably good in major limb anomalies, caution is recommended regarding surgical procedures in individuals with CdLS.
R44
Prosthetic devices targeting a single function should be considered depending on the needs and tolerance in individuals with CdLS.
R45
Prognosis regarding development and mobility should be taken into account when considering treatment of musculoskeletal problems in individuals with CdLS.


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