Overview
Down syndrome occurs as a result of trisomy 21, or three copies of chromosome 21.
Manifestations
Clinical Features
- Short stature
- Brachycephaly: flat head
- Flat nasal bridge
- Open mouth with protuberant tongue
- Epicanthal folds: a fold of skin of the upper eyelid that covers the inner corner of the eye
- Ligamentous laxity
- Hypotonia: low muscle tone
- Brachydactyly: short fingers and toes
- Fifth finger clinodactyly: bending of the little finger toward the ring finger
- Broad hands, single palmar crease
- Wide 1-2 toe gap
Complications of Down Syndrome
Cardiovascular: At Birth
- Atrioventricular (AV) septal defects
- Ventricular septal defect
- Atrial (secundum) septal defect
- Persistent ductus arteriosus
- Tetralogy of Fallot
Cardiovascular: In Adolescence
- Mitral valve prolapse
- Aortic regurgitation
Other
- Developmental Delay
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