Search for a disease and its functional consequences
ORPHA:1340 Cardiofaciocutaneous 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
Acquiring language
Permanent limitation
Moderate
Learning to read
Permanent limitation
Moderate
Learning to write
Permanent limitation
Moderate
Learning to calculate
Permanent limitation
Moderate
Reading
Permanent limitation
Moderate
Writing
Permanent limitation
Moderate
Calculating
Permanent limitation
Moderate
Focusing attention
Permanent limitation
Moderate
Making decisions/taking initiatives/finding solutions
Permanent limitation
Moderate
Receiving spoken messages
Acquisition delay
Unspecified
Receiving messages in sign language
Acquisition delay
Unspecified
Receiving nonverbal messages
Acquisition delay
Unspecified
Receiving written messages
Acquisition delay
Unspecified
Speaking
Acquisition delay
Unspecified
Producing messages in sign language
Acquisition delay
Unspecified
Producing nonverbal messages
Acquisition delay
Unspecified
Writing messages
Acquisition delay
Unspecified
Participating in a conversation
Acquisition delay
Unspecified
Using communication devices
Acquisition delay
Unspecified
Lifting and carrying objects
Acquisition delay
Moderate
Handling objects (fine hand use)
Acquisition delay
Moderate
Walking short distances
Acquisition delay
Moderate
Walking long distances
Acquisition delay
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Acquisition delay
Moderate
Washing oneself
Permanent limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
Regulating urination
Permanent limitation
Moderate
Regulating defecation
Permanent limitation
Moderate
Dressing/undressing
Permanent limitation
Moderate
Eating
Permanent limitation
Moderate
Drinking
Permanent limitation
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Moderate
Controlling one's own general behaviour
Permanent limitation
Severe
Moving around outside the home
Permanent limitation
Severe
Moving around using transportation
Permanent limitation
Severe
Driving
Permanent limitation
Severe
Interacting with other people
Permanent limitation
Low
Making/keeping friends
Permanent limitation
Low
Dealing with strangers
Permanent limitation
Moderate
Engaging in and maintaining intimate relationships
Permanent limitation
Severe
Engaging in sexual relationships
Permanent limitation
Severe
Shopping
Permanent limitation
Moderate
Cooking/preparing meals
Permanent limitation
Severe
Doing housework
Permanent limitation
Moderate
Looking after/helping others
Permanent limitation
Severe
Attending preschool
Acquisition delay
Severe
Attending mainstream school
Permanent limitation
Severe
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Severe
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Moderate
Accessing higher education
Permanent limitation
Severe
Engaging in paid work in a standard environment
Permanent limitation
Severe
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Moderate
Seeking employment
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Severe
Handling money/managing one's own budget
Permanent limitation
Severe
Undertaking a simple task
Permanent limitation
Severe
Undertaking a complex/multiple task
Permanent limitation
Severe
Carrying out daily routines
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Moderate
Playing with others
Permanent limitation
Low
Socializing
Permanent limitation
Unspecified
Practicing sports
Permanent limitation
Severe
Participating in the arts and cultural activities
Permanent limitation
Moderate
Travelling
Permanent limitation
Moderate
Occasional
Temporality
Severity
Lifting and carrying objects
Permanent limitation
Severe
Handling objects (fine hand use)
Permanent limitation
Severe
Walking short distances
Permanent limitation
Severe
Walking long distances
Permanent limitation
Severe
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Severe
Washing oneself
Permanent limitation
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Severe
Regulating urination
Permanent limitation
Severe
Regulating defecation
Permanent limitation
Severe
Dressing/undressing
Permanent limitation
Severe
Eating
Permanent limitation
Severe
Drinking
Permanent limitation
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Severe
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.
Food
Temperature
Humidity
Light
Sound intensity
Source: Dr Maria Ines KAVAMURA[Expert]
Last update: 01/07/2019
Last update: 01/07/2019
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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.