| Cardiovascular: |
| PVS, aortic valvular stenosis (pulmonary hypertension = rarely) |
| Secundum ASD, supravalvular pulmonary stenosis (aortic root dilation = rarely) |
| HCM, bicuspid aortic valve (aortic dissection = rarely) |
| Partial atrioventricular canal defect |
| Mitral insufficiency |
| VSD |
| Dental/oral: |
| Articulation difficulty, high arched palate, malocclusion, micrognathia |
| Facial features: |
| (Change with ages, see the text) |
| Ears: |
| Hearing difficulties |
| Eyes: |
| Ptosis, hypertelorism, nystagmus, strabismus, epicanthal folds |
| Gastrointestinal: |
| Feeding difficulties (prolonged feeding time, recurrent vomiting, and reflux) |
| Genitourinary: |
| Cryptorchidism, normal female fertility, males can have fertility problems, renal and kidney malformation |
| Growth: |
| Failure to thrive and short stature in most patients, developmental delay, birth weight and length are normal |
| Hematological: |
| Bleeding diathesis, thrombocytopenia, leukemia |
| Lymphatic: |
| Lymphedema, lymphangiectasia |
| Neurological: |
| Attention deficit/hyperactivity disorder, learning difficulties, central nervous system malformation, mild intellectual disability (in 33% of NS patients), speech difficulties |
| Skeletal: |
| Spinal abnormality, pectus excavatum and/or carinatum, scoliosis |
| Skin and hairs: |
| Hyperelastic skin, multiple lentigines, nevi, thick curly hair or thin sparse hair, low posterior hairline with webbed neck |
