Comprehensive Care for Patients with RASopathies

While RASopathies comprise a group of distinct syndromes with further variability in their molecular diagnoses, these conditions share physical manifestations and developmental problems affecting individuals throughout their lifetime. Comprehensive care addressing these medical and developmental differences, as well as the psychosocial needs of the individuals and their families, is necessary for the best possible long-term health outcome. A multidisciplinary team approach led by a geneticist or other RASopathies expert in combination with other medical specialists and therapists allows for syndrome-specific care individualized for each patient’s needs. Organizing care in this team model provides a central care home for the common RASopathies, such as Noonan syndrome and Neurofibromatosis type 1, as well as for the very rare conditions such as Costello syndrome or Noonan syndrome with loose anagen hair. While subspecialists may not be aware of the very rare RASopathies, they will become familiar with the common conditions and can apply this knowledge to all RASopathies. Similarly, while there may be support groups on a national level for the rarest of RASopathies, a local support network encompassing all families affected by RASopathies is more accessible to affected families.