Symptoms and features

Babies with Patau's syndrome can have a wide range of health problems.

Their growth in the womb is often restricted, resulting in a low birth weight, and 80% will be born with severe heart defects.

The brain often doesn't divide into two halves. This is known as holoprosencephaly.

When this happens it can affect facial features and cause defects, such as:

• cleft lip and palate
• an abnormally small eye or eyes (microphthalmia)
• absence of one or both eyes (anophthalmia)
• reduced distance between the eyes (hypotelorism)
• problems with the development of the nasal passages

Otherabnormalities of the face and head include:

• smaller than normal head size (microcephaly)
• skin missing from the scalp (cutis aplasia)
• ear malformations and deafness
• raised, red birthmarks (capillary haemangiomas)

Patau's syndrome can also causeother problems,such as:

• an abdominal wall defect where the abdomen doesn't develop fully in the womb, resulting in the intestines being outside the body, covered only by a membranethis is known as an exomphalos or omphalocoele
• abnormal cysts in the kidneys
• an abnormally small penis in boys
• an enlarged clitoris in girls

There may also be abnormalities of the hands and feet, such as extra fingers or toes (polydactyly),and a rounded bottom to the feet, known as rocker-bottom feet.