Overall patient care is based on multidisciplinary team, involving the geneticist (coordinator), the attending physician, doctors from several disciplines depending on the associated malformations, the care center and the paramedical staff involved in this care (psychologist, speech therapist, etc.)
An initial work-up is carried out to look for malformations associated with the syndrome, in order to guide management. This assessment may vary according to the age of diagnosis.
The work-up includes:
• Echocardiography with electrocardiogram
• Renal ultrasound
• A complete ophthalmological examination, including slit-lamp examination and fundus examination
• Audiogram
• Specialized orthopedic consultation for early management of thumb and/or toe abnormalities that could lead to functional discomfort
• Carbohydrate profile (blood sugar, HbA1c)
The clinical examination will also look for signs suggestive of:
• Gastro-oesophageal reflux: schedule an oeso-gastro-duodenal transit or PH-metry if required
• Cryptorchidism: schedule a surgical consultation if required
• Narrow medullary canal: schedule a medullary Magnetic Resonance Imaging (MRI) if in doubt
• Severe constipation.
Depending on age and clinical examination:
• Consultation with a dentist
• Consultation with a dietician
• Endocrinology evaluation for possible growth hormone treatment
• Blood tests (to check for hemopathy)
• Neuropsychological and speech therapy assessments
• Gynaecology consultation for patients after puberty
CREBBP