SMG9

Management

Currently, there is no known cure for an SMG9-related disorder. Treatment of the manifestations, symptom management, and supportive care are recommended and can be managed by the appropriate specialty. A multidisciplinary approach to coordinate the potentially complex management plan for these children is necessary:

  • Early intervention programs are typically required to maximize the developmental potential of these children.
  • A cardiologist may be involved in the case of a congenital heart disease.
  • Plastic surgery may be needed if cleft lip/palate is present.
  • Ophthalmology evaluation is warranted and long term follow up may be required.
  • Depending on whether hand and foot malformations are present, orthopaedic intervention may also be required.