Face

· Cleft palate and/or lip,

· Micrognathia (underdeveloped lower jaw),

· Macroglossia (abnormally large tongue),

· hypotelorism (eyes abnormally close together),

· hypertelorism (abnormally wide distance between the eyes)

· low set ears

Limbs:

· syndactyly (two or more fingers or toes fused together)

· clinodactyly (little finger bending inwards towards fourth finger)

· clenched fist,

· radial ray aplasia,

· Talipes (clubfoot) and

· rocker-bottom foot

Genitourinary tract

· Hydronephrosis (fluid filled kidneys)

· dysplastic kidneys (abnormality in kidney development)

· renal agenesis (failure of kidney development)

Neck

· Cystic hygroma (a tumor found at the back of the neck)

General

· Intrauterine growth restriction (IUGR) without ‘brain sparing’

· Hydrops (generalised body oedema)

Those listed above are regarded as major structural anomalies. Finding one (or more) will normally trigger a search for a possible underlying cause. This might be a chromosomal or genetic anomaly. Chromosomal anomalies such as Down’s syndrome or Edward’s syndrome and others are collectively known as ‘Aneuploidy’. It is important to stress here that, though these findings are significant, they are not always associated with chromosomal defects, especially when seen in isolation. In fact, some are associated with the use of some types of medication during pregnancy. In some cases, these abnormalities could be found in isolation in an otherwise completely healthy baby.

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A wide space between the eyes is known as ‘hypertelorism’. It is sometimes associated with chromosomal abnormalities. When occurring together with other structural abnormalities, the likelihood of a chromosomal abnormality is increased significantly