סקירה כללית של כל השאלות הנפוצות
These questions and answers are collected for and by people with Cornelia de Lange Syndrome () and professional experts around .
In doing so, we believe to be a helpful resource for those affected by in their search for answers. Rare, but strong together!
Introduction
What medical care may a child with CdLS need?
What medical care may a child with CdLS need? > Paediatric Medical Care
What medical care may a child with CdLS need? > Growth in Childhood
What medical care may a child with CdLS need? > Feeding and Dental Difficulties
What medical care may a child with CdLS need? > Ability to move around and manipulate the environment
What medical care may a child with CdLS need? > Pain and Behaviour
What medical care may a child with CdLS need? > Puberty
What medical care may a child with CdLS need? > Adult medical Follow-up
What medical care may a child with CdLS need? > Adult medical Follow-up > Can individuals with CdLS have children?
What medical care may a child with CdLS need? > Adult medical Follow-up > Weight Management in Adulthood
What medical care may a child with CdLS need? > Adult medical Follow-up > How are the Organs Affected in Adults with CdLS?
What medical care may a child with CdLS need? > Adult medical Follow-up > Risk of Cancer in CdLS
Health difficulties in CdLS...
Health difficulties in CdLS... > Gastrointestinal Problems
Health difficulties in CdLS... > Gastrointestinal Problems > Malrotation; the intestines (or viscera) are twisted
Health difficulties in CdLS... > Gastrointestinal Problems > Constipation of the bowels (Obstipation)
Health difficulties in CdLS... > Gastrointestinal Problems > Reflux
Health difficulties in CdLS... > Senses
Health difficulties in CdLS... > Senses > The eyes and the visual system
Health difficulties in CdLS... > Senses > Ears and hearing
Health difficulties in CdLS... > Senses > Mouth, nose and throat
Health difficulties in CdLS... > The musculoskeletal system
Health difficulties in CdLS... > The musculoskeletal system > Upper limb abnormalities:
Health difficulties in CdLS... > The musculoskeletal system > Lower limb abnormalities
Health difficulties in CdLS... > The musculoskeletal system > Scoliosis
Health difficulties in CdLS... > Autonomic nervous system
Health difficulties in CdLS... > Sleep
Cognitive and behavioural characteristics in CdLS
Cognitive and behavioural characteristics in CdLS > Intellectual Disability
Cognitive and behavioural characteristics in CdLS > Executive Function
Cognitive and behavioural characteristics in CdLS > Sensory processing
Cognitive and behavioural characteristics in CdLS > Adaptive behaviour in CdLS
Cognitive and behavioural characteristics in CdLS > Self-injurious and aggressive behaviour
Cognitive and behavioural characteristics in CdLS > Repetitive behaviour
Cognitive and behavioural characteristics in CdLS > Social functioning including ASDs
Cognitive and behavioural characteristics in CdLS > Anxiety
Cognitive and behavioural characteristics in CdLS > Communication and language
Planning for best quality of life
Planning for best quality of life > Medical Care transitioning
Family Empowerment
Moleculair diagnostic criteria
Moleculair diagnostic criteria > Other genes
Moleculair diagnostic criteria > Mosaicism
Moleculair diagnostic criteria > Familial recurrence risk
Diagnostic approaches > diagnosis of CdLS prenatally (before birth)
