Noonan Syndrome Orphanet

Description: Characteristic chest deformities consist of pectus carinatum superiorly and pectus excavatum inferiorly. These sternal abnormalities are present in 70%–95% of cases. The thorax is broad and the internipple distance is large. About 15% of patients develop thoracic scoliosis. The shoulders are often rounded with scapula alata. Other common orthopaedic features include cubitus valgus (50%), radioulnar synostosis (2%), clinobrachydactyly (30%), joint hyperextensibility (50%) and talipes equinovarus (12%). Giant cell lesions of the jaw, similar to those seen in cherubism, have been reported in several patients.
Ineke van der Burgt Orphanet Journal of Rare Diseases 2007, 2:4 full text