Overview
Edwards syndrome describes a set of features seen due to an extra copy of chromosome 18 (trisomy 18). It results in severe physical and mental disabilities and around 90% of affected patients do not survive to 1 year.
Epidemiology
- Edwards syndrome is the second most common autosomal trisomy after trisomy 21 (Down’s syndrome)
- Edwards syndrome can affect up to 1 in 3600 births
Presentation
- Low-set, malformed ears
- Cleft lip/cleft palate
- Micrognathia – smaller-than-normal jaw
- Finger webbing
- Rocker bottom feet – convex and rounded soles (curve outwards rather than inwards)
