Orphanet: Disability
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ORPHA:93258  Pfeiffer syndrome type 1

:: 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
Hearing/listening
Permanent limitation
Moderate
Hearing/listening
Acquisition delay
Moderate
Hearing/listening
Transient limitation
Moderate
Attending preschool
Acquisition delay
Low
Attending mainstream school
Acquisition delay
Moderate
Occasional
Temporality
Severity
Seeing/watching
Permanent limitation
Low
Seeing/watching
Acquisition delay
Moderate
Seeing/watching
Transient limitation
Low
Receiving spoken messages
Permanent limitation
Moderate
Receiving spoken messages
Acquisition delay
Moderate
Receiving spoken messages
Transient limitation
Low
Participating in a conversation
Permanent limitation
Low
Bending
Permanent limitation
Low
Handling objects (fine hand use)
Permanent limitation
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Low
Engaging in and maintaining intimate relationships
Permanent limitation
Low
Accessing higher education
Permanent limitation
Low
Practicing sports
Permanent limitation
Low
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.

Sound intensity
Sound quality
Vibrations
Source: Dr Eric J. ARNAUD[Expert]_Dr Aina GREIG[Expert]_Dr Austin HAMM[Expert]
Last update: 03/08/2020

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