What is Down syndrome?
Down syndrome is a chromosomal anomaly with trisomy 21 characterized by
- marked infantile hypotonia with hyperflexibility of joints,
- cognitive impairment, brachycephaly with flat occiput,
- up-slanting palpebral fissures,
- late closure of fontanelles,
- flattened nasal bridge,
- epicanthal folds,
- speckling of iris (Brushfield’s spots),
- fine lens opacities,
- small ears,
- hypoplastic teeth,
- short neck,
- brachydactyly with clinodactyly of fifth fingers,
- simian creases,
- wide space between first and second toes,
- congenital heart disease (in 40%),
- hypogonadism