Question

Which clinical feature is present in approximately 50% of Down's Syndrome cases?

Options

• Polydactyly

• Microphthalmia

• Cleft palate and lip

• Congenital heart defects

Answer 1

Congenital heart defects are present in approximately 50% of Down's Syndrome cases. These cardiac abnormalities are a significant clinical feature and require medical monitoring. Other common features include intellectual disability, short stature, broad hands, flat facial profile, epicanthal folds, and a furrowed tongue.