Treatment of manifestations
• Management of hand/ foot anomalies may require input from orthopaedic surgeons and physiotherapists
• Podiatrists’ assessment and management would be beneficial to those with toenail problems
• Hypotonia can be improved with physiotherapy
• Epilepsy can be managed by neurologists and the condition is usually controlled by anti-epileptic agents
• Hydrocephalus can be improved with ventriculoperitoneal (VP) shunt surgery
• Heart malformation would need medical or surgical treatment provided by cardiologists and cardiac surgeons
• The participation of endocrinologists, dental surgeons, psychotherapists, developmental paediatricians in management would depend on individuals’ clinical presentation
Surveillance
• Regular developmental, neurological and growth assessment is beneficial
• Regular dental assessment is suggested
• Cardiac assessment would be indicated if patient develops symptoms, e.g. shortness of breath and reduce exercise tolerance.
DPH1