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ORPHA:474  Jeune 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
Attending mainstream school
Acquisition delay
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Acquisition delay
Moderate
Engaging in paid work in a standard environment
Acquisition delay
Moderate
Performing professional tasks
Acquisition delay
Moderate
Occasional
Temporality
Severity
Seeing/watching
Permanent limitation
Severe
Receiving written messages
Permanent limitation
Severe
Moving around outside the home
Permanent limitation
Severe
Using transportation
Permanent limitation
Severe
Driving
Permanent limitation
Severe
Accessing higher education
Acquisition delay
Moderate
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.

Light intensity
Light quality
Day/night cycles
Source: Dr Geneviève BAUJAT[Expert]
Last update: 21/07/2016

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.