During<unk>  examination a clinician may observe distinct<unk>  features involving the head, nose, eyes, ears, throat. Other presentations may include skin conditions like jaundice and deformities of the digits. Congenital heart defect, mostly pulmonary stenosis, typical facial features, skeletal features and posterior embryotoxon in the eye are commonly found. Renal and central nervous system abnormalities may occur.
Alagille syndrome physical examination
Fanconi syndrome physical examination
Hurler syndrome physical examination
Cowden syndrome physical examination
Hunter syndrome physical examination
Cretinism physical examination
Noonan syndrome physical examination
Progeria physical examination