Watson syndrome is characterized by the combination of pulmonary valvular stenosis, café-au-lait spots, borderline or low normal intelligence and short stature. In the majority of cases, it is also associated with macrocephaly and Lisch's nodules. In addition, neurofibromatosis is found in one-third of patients. Inheritance of this rare syndrome is autosomal dominant, as in type 1 neufibromatosis (or Von Recklinghausen syndrome). Specific mutations in NF1 gene (the gene responsible for type 1 neurofibromatosis) have been found in few families with features of Watson's syndrome. Hence, it is now thought that Watson syndrome is a variant of type 1 neurofibromatosis. Nevertheless, the exact pathogenesis of this disease remains unknown. Prognosis depends on degree of involvement, which varies greatly among individuals, even within the same family. Management and follow-up should be multidisciplinary and adapted to each patient.
Last update: February 2005