Professionals

Pathogenic variants in PPP1CB are responsible for Noonan syndrome with loose anagen hair type 2 (NSLH2), a rare disorder inherited in an autosomal dominant manner. To date less than 25 patients have been reported in the published literature and the phenotype is variable. Common findings include short stature, dysmorphic features, CV manifestations, café-au-lait spots/freckles, abnormal hair and developmental delays; seizures have also been described and in some cases CNS structural abnormalities.