KANSL1

Management

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.