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ORPHA:289  Ellis Van Creveld syndrome

:: Activity limitation/participation restriction is described according to the Orphanet Functioning Thesaurus, derived and adapted from the International Classification of Functioning, Disability and Health – Children and Youth (ICF-CY, WHO 2007). The provided information is assessed from the whole patients’ population affected by the disease, receiving standard care and management (specific and/or symptomatic management, prevention and prophylaxis, devices and aids, care and support). Functional consequences are organized by their frequency in the patients’ population. This general information may not apply to specific cases. Some difficulties reported here can occur with a different temporality or severity degree, and others that are not listed can nevertheless arise.

 Loss of an ability
Frequent
Temporality
Severity
Walking long distances
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Driving
Permanent limitation
Moderate
Occasional
Temporality
Severity
Memorizing and retrieving
Acquisition delay
Moderate
Handling objects (fine hand use)
Acquisition delay
Moderate
Moving around outside the home
Permanent limitation
Moderate
Shopping
Permanent limitation
Low
Cooking/preparing meals
Permanent limitation
Low
Doing housework
Permanent limitation
Low
Looking after/helping others
Permanent limitation
Low
Attending mainstream school
Acquisition delay
Low
Learning a profession (vocational training/apprenticeship) in the standard environment
Acquisition delay
Low
Accessing higher education
Acquisition delay
Low
Engaging in paid work in a standard environment
Permanent limitation
Low
Performing professional tasks
Permanent limitation
Low
Not defined
Reaching and catching objects
Source: Dr Geneviève BAUJAT[Expert]
Last update: 19/07/2016

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