Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects. Each cell normally contains 23 pairs of chromosomes, which carry the genes you inherit from your parents. But a baby with Patau's syndrome has 3 copies of chromosome 13, instead of 2. This severely disrupts normal development and, in many cases, results in miscarriage, stillbirth or the baby dying shortly after birth. Babies with Patau's syndrome grow slowly in the womb and have a low birth weight, along with a number of other serious medical problems. Patau's syndrome affects about 1 in every 5,000 births. The risk of having a baby with the syndrome increases with the mother's age. More than 9 out of 10 children born with Patau's syndrome die during the first year. About 1 in 10 babies with less severe forms of the syndrome, such as partial or mosaic trisomy 13, live for more than a year.
It depends if it's a chromosomal disorder or if it's an isolated malformation.
It is called a proboscis. This is a severe case of holoprosencephaly with cyclopia, otocephaly and agnathia. The only way to know for sure if it was Trisomy 13 is to do a karyotype. There is usually a triad of holoprosencephaly, polydactyly and cleft lip/palate. Some authors also suggest cardiopathy.
There is a lot going on with this condition. Chalk it up to being a malformation.
Holoprosencephaly is commonly due to mutations in a gene called sonic hedgehog or SHH. This occurs in all populations.
What type of conditions caused the genetic disorders? What countries is this most common in??
This is caused by mutations in a gene called sonic hedgehog or SHH. There are various conditions that have holoprosencephaly as a feature. But the most common is a chromosomal disorder called Trisomy 13.
Thinking of it now, I had an older sister who passed away due to trisomy 13. I'm happy to be learning what it is now.