- Low birth weight
- Neonatal hypotonia followed by hypertonia
- Growth delay
- Small head (microcephaly)
- Long head (dolichocephaly)
- Craniofacial abnormalities
- Eye malformations (microphthalmia, coloboma)
- Skeletal abnormalities (clenched fist, thumb aplasia, malformed feet)
- Incomplete development of lungs (pulmonary hypoplasia)
- Congenital heart defects
- Gastrointestinal abnormalities
- Urogenital malformations
- Neurological problems (anencephaly, hydrocephaly and other brain malformations)
- Severe learning disability
People with Edwards syndrome can have a range of severe medical problems. For the most part of their lives they require specialised nursing in a hospital or hospice.
The majority of non-mosaic patients develop only limited autonomy (absence of speech and ambulation).
For unknown reasons, the rate of survival is higher in females than in males, leading to a female predominance among live-born trisomy 18 infants.