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ORPHA:3206  Stüve-Wiedemann 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
Very frequent
Temporality
Severity
Standing
Acquisition delay
Low
Sitting
Acquisition delay
Low
Sitting
Transient limitation
Unspecified
Maintaining a standing position
Acquisition delay
Low
Walking short distances
Acquisition delay
Low
Walking long distances
Acquisition delay
Low
Performing vigorous activities (climbing, running, jumping, swimming,...)
Acquisition delay
Low
Eating
Acquisition delay
Severe
Drinking
Acquisition delay
Severe
Moving around within the home
Acquisition delay
Low
Moving around outside the home
Acquisition delay
Low
Moving around outside the home
Transient limitation
Severe
Attending preschool
Transient limitation
Unspecified
Attending mainstream school
Transient limitation
Unspecified
Playing with others
Acquisition delay
Unspecified
Practicing sports
Acquisition delay
Low
Frequent
Temporality
Severity
Seeing/watching
Transient limitation
Moderate
Learning to read
Acquisition delay
Moderate
Learning to write
Acquisition delay
Moderate
Reading
Acquisition delay
Moderate
Writing
Acquisition delay
Moderate
Receiving written messages
Acquisition delay
Moderate
Writing messages
Acquisition delay
Moderate
Standing
Permanent limitation
Unspecified
Sitting
Permanent limitation
Unspecified
Transferring oneself
Permanent limitation
Unspecified
Maintaining a standing position
Permanent limitation
Unspecified
Walking short distances
Permanent limitation
Unspecified
Walking short distances
Transient limitation
Moderate
Walking long distances
Permanent limitation
Unspecified
Walking long distances
Transient limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Unspecified
Performing vigorous activities (climbing, running, jumping, swimming,...)
Transient limitation
Moderate
Moving around within the home
Permanent limitation
Unspecified
Moving around within the home
Transient limitation
Moderate
Moving around outside the home
Permanent limitation
Unspecified
Attending preschool
Permanent limitation
Unspecified
Attending mainstream school
Permanent limitation
Unspecified
Playing with others
Permanent limitation
Unspecified
Playing with others
Transient limitation
Unspecified
Practicing sports
Permanent limitation
Unspecified
Practicing sports
Transient limitation
Moderate
Occasional
Temporality
Severity
Seeing/watching
Transient limitation
Severe
Standing
Transient limitation
Moderate
Transferring oneself
Transient limitation
Low
Maintaining a standing position
Transient limitation
Moderate
Doing housework
Transient limitation
Moderate
Looking after/helping others
Transient limitation
Moderate
Undertaking a complex/multiple task
Transient limitation
Moderate
Carrying out daily routines
Transient limitation
Moderate
Not defined
Bending
Using transportation
Driving
Environmental factors

:: Following are the environmental factors that should be addressed in order to improve the functioning or limit the restrictions deriving from this disease.

Temperature
Light intensity
Light quality
Source: Expert
Last update: 17/01/2014

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