x

Search for a disease and its functional consequences

* (*) mandatory field

ORPHA:2750  Orofaciodigital 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
Acquiring language
Permanent limitation
Unspecified
Acquiring language
Acquisition delay
Unspecified
Learning to read
Permanent limitation
Unspecified
Learning to read
Acquisition delay
Unspecified
Learning to write
Permanent limitation
Unspecified
Learning to write
Acquisition delay
Unspecified
Learning to calculate
Permanent limitation
Unspecified
Learning to calculate
Acquisition delay
Unspecified
Reading
Permanent limitation
Unspecified
Reading
Acquisition delay
Unspecified
Writing
Permanent limitation
Unspecified
Writing
Acquisition delay
Unspecified
Calculating
Permanent limitation
Unspecified
Calculating
Acquisition delay
Unspecified
Thinking and reasoning
Permanent limitation
Low
Making decisions/taking initiatives/finding solutions
Permanent limitation
Unspecified
Speaking
Permanent limitation
Unspecified
Speaking
Acquisition delay
Unspecified
Participating in a conversation
Acquisition delay
Unspecified
Standing
Acquisition delay
Unspecified
Sitting
Acquisition delay
Unspecified
Bending
Acquisition delay
Unspecified
Maintaining head position
Acquisition delay
Unspecified
Walking short distances
Acquisition delay
Unspecified
Walking long distances
Acquisition delay
Unspecified
Performing vigorous activities (climbing, running, jumping, swimming,...)
Acquisition delay
Unspecified
Eating
Acquisition delay
Unspecified
Attending mainstream school
Permanent limitation
Low
Accessing higher education
Permanent limitation
Unspecified
Occasional
Temporality
Severity
Hearing/listening
Permanent limitation
Unspecified
Thinking and reasoning
Permanent limitation
Severe
Participating in a conversation
Permanent limitation
Unspecified
Eating
Permanent limitation
Unspecified
Controlling one's own general behaviour
Permanent limitation
Unspecified
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Unspecified
Engaging in paid work in a standard environment
Permanent limitation
Unspecified
Performing professional tasks
Permanent limitation
Unspecified
Undertaking a simple task
Permanent limitation
Unspecified
Undertaking a complex/multiple task
Permanent limitation
Unspecified
Carrying out daily routines
Permanent limitation
Unspecified
Not defined
Carrying out administrative procedures
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
Source: Expert
Last update: 22/06/2015

Additional information

Specialised Social Services

Warning

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.