Down syndrome

info · Genetic · ICD-10: Q90

A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.

Signs and symptoms

Upslanted palpebral fissure
Hypotonia
Epicanthus
Anal atresia
Short stature
Prenatal double bubble sign
Macroglossia
Broad palm
Intellectual disability
Joint hypermobility

Also known as: Complete trisomy 21 syndrome; Down's syndrome; Down's syndrome - trisomy 21; Downs syndrome; G Trisomy