Edwards Syndrome - Trisomy 18
-
Typically characterised by a small baby with fine features, overlapping fingers and rockerbottom feet.
-
Affects 1 in 3000 livebirths
-
Usually not compatible with life beyond 1 year (50% do not survive beyond the first week of life), some infants do survive
FEATURES
-
Possible polyhydramnios(excess amniotic fluid) during pregnancy
-
Low birth weight
-
Microcephaly
-
Low set ears
-
Small jaw
-
Clenched hands/overlapping fingers
-
Hypoplastic nails
-
Umbilical hernia
-
Crossed legs (preferred position)
-
Severe developmental delay
CARDIOVASCULAR FEATURES
-
Ventricular Septal Defect (VSD)
-
Atrial Septal Defect (ASD)
-
Patent Ductus Arteriosus (PDA)
RENAL FEATURES
-
Horseshoe kidney
-
Hydronephrosis
-
Polycystic kidney