Management

Evaluations following diagnosis:
●    Clinical genetics review and genetic counselling.
●    Craniofacial assessment of head shape and suture ridging; referral to a craniofacial team and/or neurosurgeon where craniosynostosis is present.
●    Ophthalmology assessment for ptosis.
●    Formal developmental assessment (motor, adaptive, cognitive, speech-language) with referral to early intervention and/or special education.
●    Neurodevelopmental/behavioural screening for autism spectrum disorder from beyond 12 months of age.
●    Audiology evaluation.
●    Gastroenterology, nutrition and feeding-team assessment, including aspiration risk; consider evaluation for gastrostomy in those with dysphagia or aspiration risk.
●    Cardiology consultation with baseline echocardiogram.
●    Neurology review; brain MRI where clinically indicated to assess the corpus callosum.

Treatment of manifestations:
●    Craniosynostosis: surgical correction as determined by the craniofacial/neurosurgical team.
●    Ptosis: standard ophthalmology-directed management.
●    Developmental delay/intellectual disability: early intervention, individualised education planning, and developmental therapies (physiotherapy, occupational therapy, speech-language therapy).
●    Autism spectrum disorder: applied behaviour analysis and other evidence-based interventions.
●    Hearing loss: hearing aids and ENT input as indicated.
●    Feeding difficulties: feeding therapy; gastrostomy for persistent difficulties or unsafe swallow.
●    Congenital heart defects: standard cardiology management.

Surveillance:
●    Head circumference and head shape at each visit in infancy and early childhood.
●    Growth parameters, nutritional status and safety of oral intake at each visit.
●    Developmental progress and educational needs at each visit.
●    Ophthalmology review at a frequency determined by the degree of ptosis.
●    Audiology review based on clinical suspicion.