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ORPHA:15  Achondroplasia

:: 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
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
Dressing/undressing
Permanent limitation
Moderate
Driving
Permanent limitation
Severe
Shopping
Permanent limitation
Moderate
Cooking/preparing meals
Permanent limitation
Moderate
Doing housework
Permanent limitation
Moderate
Looking after/helping others
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Moderate
Seeking employment
Permanent limitation
Severe
Taking part in community life
Permanent limitation
Moderate
Travelling
Permanent limitation
Severe
Frequent
Temporality
Severity
Standing
Permanent limitation
Low
Standing
Acquisition delay
Severe
Sitting
Acquisition delay
Severe
Bending
Acquisition delay
Low
Maintaining a standing position
Permanent limitation
Moderate
Maintaining a standing position
Acquisition delay
Moderate
Handling objects (fine hand use)
Acquisition delay
Low
Walking long distances
Permanent limitation
Moderate
Walking long distances
Acquisition delay
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Acquisition delay
Moderate
Washing oneself
Acquisition delay
Moderate
Moving around within the home
Permanent limitation
Moderate
Moving around outside the home
Permanent limitation
Severe
Using transportation
Permanent limitation
Moderate
Interacting with other people
Permanent limitation
Moderate
Making/keeping friends
Permanent limitation
Moderate
Dealing with strangers
Permanent limitation
Moderate
Engaging in and maintaining intimate relationships
Permanent limitation
Moderate
Engaging in sexual relationships
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Moderate
Accessing higher education
Permanent limitation
Moderate
Engaging in paid work in a standard environment
Permanent limitation
Moderate
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Moderate
Performing professional tasks
Permanent limitation
Moderate
Playing with others
Permanent limitation
Moderate
Socializing
Permanent limitation
Moderate
Practicing sports
Permanent limitation
Severe
Participating in the arts and cultural activities
Permanent limitation
Severe
Occasional
Temporality
Severity
Maintaining head position
Acquisition delay
Low
Reaching and catching objects
Acquisition delay
Low
Reaching and catching objects
Transient limitation
Moderate
Lifting and carrying objects
Acquisition delay
Low
Lifting and carrying objects
Transient limitation
Moderate
Handling objects (fine hand use)
Permanent limitation
Low
Walking short distances
Acquisition delay
Low
Washing oneself
Permanent limitation
Low
Getting good quality sleep
Permanent limitation
Low
Staying awake
Permanent limitation
Low
Attending preschool
Acquisition delay
Moderate
Attending mainstream school
Acquisition delay
Moderate
Attending school in an adapted mainstream/special environment
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.

Food
Source: Association des Personnes de Petite Taille[Patient organisation]_ Dr Catherine CORMIER[Expert]
Last update: 16/09/2016

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