Short stature associated with Noonan syndrome

Short stature associated with Noonan syndrome refers to impaired linear growth and significantly reduced final adult height occurring in individuals with Noonan syndrome, an autosomal dominant multisystem genetic disorder classified among the RASopathies Although affected infants often present with normal birth length and weight, growth velocity typically decelerates during early childhood, frequently compounded by delayed pubertal growth spurts Pathophysiologically, the condition arises from ge...

Short stature associated with Noonan syndrome refers to impaired linear growth and significantly reduced final adult height occurring in individuals with Noonan syndrome, an autosomal dominant multisystem genetic disorder classified among the RASopathies Pathophysiologically, the condition arises from germline variants in genes encoding components of the RAS-MAPK signaling pathway—most commonly *PTPN11*—which disrupt skeletal growth plate chondrogenesis and lead to partial growth hormone resista...

Although affected infants often present with normal birth length and weight, growth velocity typically decelerates during early childhood, frequently compounded by delayed pubertal growth spurts

Although affected infants often present with normal birth length and weight, growth velocity typically decelerates during early childhood, frequently compounded by delayed pubertal growth spurts

Pathophysiologically, the condition arises from germline variants in genes encoding components of the RAS-MAPK signaling pathway—most commonly *PTPN11*—which disrupt skeletal growth plate chondrogenesis and lead to partial growth hormone resistance or impaired insulin-like growth factor-1 (IGF-1) signaling

This musculoskeletal manifestation predominantly affects pediatric populations, leaving untreated individuals with adult heights substantially below population normative percentiles alongside classic dysmorphic, thoracic, and cardiovascular features