Management

Currently, there is no known cure for an P4HTM-related disorder. Treatment of the manifestations, symptom management, and supportive care are recommended

While there is no cure to this disorder, each of its manifestations can be managed by the appropriate specialty such that a multidisciplinary approach to coordinate the potentially complex management plan for these children is necessary and can have a meaningful positive impact. For example, early and full evaluation of feeding and respiratory functions, including a sleep study, are recommended. Pulse oximetry monitoring may also be helpful. Additionally, early intervention programs are typically required to maximize the developmental potential of children with P4HTM-related syndrome. Ophthalmology evaluation is also warranted, and long term follow up may be required if eye abnormalities are present.