Work in progress. Based on an extensive clinical data set and longitudinal data, disease specific management and surveillance strategies will be developed. For now, there are manly general advices:
Treatment of manifestations: Physiotherapy for feeding problems and motor delay, speech therapy and other interventions to augment communication, educational programs directed to specific disabilities identified. Routine treatment of: epilepsy; scoliosis, hip dislocation, and positional deformities of the feet; cryptorchidism; cardiac, renal, and urologic problems.
Surveillance: Routine ophthalmologic examinations for hypermetropia and strabismus; monitoring for progressive spine deformities. Melanoma screening measures for individuals with a skin type at risk.