Downs syndrome can be easily detected nowadays by screening during pregnancy. After birth, downs syndrome has certain peculiar features like low set ears, high arched palate, mongoloid facial features, a single simian crease in the palms, flat or low nasal bridge. The child had delayed developmental milestones. It can also be associated with cardiac abnormalities, which can be detected through Echocardiography. Mostly diagnosis is based on physical examination. But karyotyping/genetic testing can be done to confirm the diagnosis.

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Can be diagnosis by clinical examination.. best way and confirm diagnosis by genetic testing.