Resumen de todas las preguntas más frecuentes
Estas perguntas e respostas são recolhidas para e por pessoas com uma doença rara (RD) e especialistas profissionais em torno de RD.
Ao fazê-lo, acreditamos ser um recurso útil para as pessoas afectadas pela RD na sua procura de respostas. Raros, mas juntos somos fortes!
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 > Planeamento para a melhor qualidade de vida
Diagnosis and management of Cornelia de Lange syndrome > Planeamento para a melhor qualidade de vida > 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)
