Panoramica di tutte le domande frequenti
Queste domande e risposte sono raccolte per e da persone con una condizione rara (RD) e da esperti professionisti intorno a RD.
In questo modo, crediamo di poter essere una risorsa utile per le persone affette da RD nella loro ricerca di risposte. Rari, ma forti insieme!
Diagnosis and management of Cornelia de Lange syndrome > Introduction
Diagnosis and management of Cornelia de Lange syndrome > What medical care may a child with CdLS need?
Diagnosis and management of Cornelia de Lange syndrome > What medical care may a child with CdLS need? > Paediatric Medical Care
Diagnosis and management of Cornelia de Lange syndrome > What medical care may a child with CdLS need? > Growth in Childhood
Diagnosis and management of Cornelia de Lange syndrome > What medical care may a child with CdLS need? > Feeding and Dental Difficulties
Diagnosis and management of Cornelia de Lange syndrome > What medical care may a child with CdLS need? > Ability to move around and manipulate the environment
Diagnosis and management of Cornelia de Lange syndrome > What medical care may a child with CdLS need? > Pain and Behaviour
Diagnosis and management of Cornelia de Lange syndrome > What medical care may a child with CdLS need? > Puberty
Diagnosis and management of Cornelia de Lange syndrome > What medical care may a child with CdLS need? > Adult medical Follow-up
Diagnosis and management of Cornelia de Lange syndrome > What medical care may a child with CdLS need? > Adult medical Follow-up > Can individuals with CdLS have children?
Diagnosis and management of Cornelia de Lange syndrome > What medical care may a child with CdLS need? > Adult medical Follow-up > Weight Management in Adulthood
Diagnosis and management of Cornelia de Lange syndrome > What medical care may a child with CdLS need? > Adult medical Follow-up > How are the Organs Affected in Adults with CdLS?
Diagnosis and management of Cornelia de Lange syndrome > What medical care may a child with CdLS need? > Adult medical Follow-up > Risk of Cancer in CdLS
Diagnosis and management of Cornelia de Lange syndrome > Health difficulties in CdLS...
Diagnosis and management of Cornelia de Lange syndrome > Health difficulties in CdLS... > Gastrointestinal Problems
Diagnosis and management of Cornelia de Lange syndrome > Health difficulties in CdLS... > Intestinal malrotation
Diagnosis and management of Cornelia de Lange syndrome > Health difficulties in CdLS... > Constipation
Diagnosis and management of Cornelia de Lange syndrome > Health difficulties in CdLS... > Reflux
Diagnosis and management of Cornelia de Lange syndrome > Health difficulties in CdLS... > Senses
Diagnosis and management of Cornelia de Lange syndrome > Health difficulties in CdLS... > Senses > The eyes and the visual system
Diagnosis and management of Cornelia de Lange syndrome > Health difficulties in CdLS... > Senses > Ears and hearing
Diagnosis and management of Cornelia de Lange syndrome > Health difficulties in CdLS... > Senses > Mouth, nose and throat
Diagnosis and management of Cornelia de Lange syndrome > Health difficulties in CdLS... > The musculoskeletal system
Diagnosis and management of Cornelia de Lange syndrome > Health difficulties in CdLS... > The musculoskeletal system > Upper limb abnormalities:
Diagnosis and management of Cornelia de Lange syndrome > Health difficulties in CdLS... > The musculoskeletal system > Lower limb abnormalities
Diagnosis and management of Cornelia de Lange syndrome > Health difficulties in CdLS... > The musculoskeletal system > Scoliosis
Diagnosis and management of Cornelia de Lange syndrome > Health difficulties in CdLS... > Autonomic nervous system
Diagnosis and management of Cornelia de Lange syndrome > Health difficulties in CdLS... > Sleep
Diagnosis and management of Cornelia de Lange syndrome > Cognitive and behavioural characteristics in CdLS
Diagnosis and management of Cornelia de Lange syndrome > Cognitive and behavioural characteristics in CdLS > Intellectual Disability
Diagnosis and management of Cornelia de Lange syndrome > Cognitive and behavioural characteristics in CdLS > Executive Function
Diagnosis and management of Cornelia de Lange syndrome > Cognitive and behavioural characteristics in CdLS > Sensory processing
Diagnosis and management of Cornelia de Lange syndrome > Cognitive and behavioural characteristics in CdLS > Adaptive behaviour in CdLS
Diagnosis and management of Cornelia de Lange syndrome > Cognitive and behavioural characteristics in CdLS > Self-injurious and aggressive behaviour
Diagnosis and management of Cornelia de Lange syndrome > Cognitive and behavioural characteristics in CdLS > Repetitive behaviour
Diagnosis and management of Cornelia de Lange syndrome > Cognitive and behavioural characteristics in CdLS > Social functioning including ASDs
Diagnosis and management of Cornelia de Lange syndrome > Cognitive and behavioural characteristics in CdLS > Anxiety
Diagnosis and management of Cornelia de Lange syndrome > Cognitive and behavioural characteristics in CdLS > Communication and language
Diagnosis and management of Cornelia de Lange syndrome > Pianificare la migliore qualità di vita
Diagnosis and management of Cornelia de Lange syndrome > Pianificare la migliore qualità di vita > Medical Care transitioning
Diagnosis and management of Cornelia de Lange syndrome > Family Empowerment
Diagnosis and management of Cornelia de Lange syndrome > Moleculair diagnostic criteria
Diagnosis and management of Cornelia de Lange syndrome > Moleculair diagnostic criteria > Other genes
Diagnosis and management of Cornelia de Lange syndrome > Moleculair diagnostic criteria > Mosaicism
Diagnosis and management of Cornelia de Lange syndrome > Moleculair diagnostic criteria > Familial recurrence risk
Diagnosis and management of Cornelia de Lange syndrome > Diagnostic approaches > diagnosis of CdLS prenatally (before birth)