Pataus Syndrome
Symptoms and features
Source: NHS
In this topic (5)
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.
Articles for Pataus Syndrome
Causes of Patau's syndrome
Patau's syndromehappens by chance and isn't caused by anything the parents have done. Most cases of the syndrome don't run in families (they're not inherited). They occur randomly during conception,
Genetic testing for parents
Both parents will need to have their chromosomes analysed if their baby is affected by Patau's syndrome caused by a chromosomal translocation. Genetic testing is carried out to help parents plan for
Introduction
Find out about Patau's syndrome, also known as trisomy 13, which is a serious genetic disorder where a baby has an extra copy of chromosome 13.
Screening for Patau's syndrome
You'll be offered a screening test for Patau's syndrome as well as Down's syndrome (trisomy 21) and Edwards' syndrome (trisomy 18) from 10-14 weeks of pregnancy. The test assesses your chances of ha
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.