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• 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

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FEATURES

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• 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

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CARDIOVASCULAR FEATURES

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• Ventricular Septal Defect (VSD)

• Atrial Septal Defect (ASD)

• Patent Ductus Arteriosus (PDA)

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RENAL FEATURES

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• Horseshoe kidney

• Hydronephrosis

• Polycystic kidney