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ORPHA:782 Axenfeld-Rieger 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.

Environmental factors may however require particular attention for an optimal management of this disease. This information is restricted to the consequences of the disease and its management on functioning and daily life. Clinical aspects (including fatigue, pain, impact of the disease on the patient’s psychological state) are described through other documents (i.e. Disability factsheets).

Loss of an ability
Occasional

Temporality
Severity
Accessing higher education
Permanent limitation
Unspecified
Acquiring language
Permanent limitation
Unspecified
Attending mainstream school
Permanent limitation
Unspecified
Calculating
Permanent limitation
Unspecified
Cooking/preparing meals
Permanent limitation
Unspecified
Doing housework
Permanent limitation
Unspecified
Driving
Permanent limitation
Unspecified
Engaging in paid work in a standard environment
Permanent limitation
Unspecified
Focusing attention
Permanent limitation
Unspecified
Handling money/managing one's own budget
Permanent limitation
Unspecified
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Unspecified
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Unspecified
Learning to calculate
Permanent limitation
Unspecified
Learning to read
Permanent limitation
Unspecified
Learning to write
Permanent limitation
Unspecified
Looking after/helping others
Permanent limitation
Unspecified
Making decisions/taking initiatives/finding solutions
Permanent limitation
Unspecified
Moving around outside the home
Permanent limitation
Unspecified
Participating in the arts and cultural activities
Permanent limitation
Unspecified
Performing professional tasks
Permanent limitation
Unspecified
Practicing sports
Permanent limitation
Unspecified
Reading
Permanent limitation
Unspecified
Seeing/watching
Permanent limitation
Unspecified
Seeking employment
Permanent limitation
Unspecified
Shopping
Permanent limitation
Unspecified
Taking part in community life
Permanent limitation
Unspecified
Travelling
Permanent limitation
Unspecified
Undertaking a complex/multiple task
Permanent limitation
Unspecified
Undertaking a simple task
Permanent limitation
Unspecified
Writing
Permanent limitation
Unspecified
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
Source: Dr Daniella BACH-HOLM[Expert]
Last update: 01/11/2022

Warning

The documents contained in thisweb 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.