Top
10
Doctor insights on: Patau Syndrome Symptoms

Share
1

1
What are the symptoms involved with patau syndrome?

What are the symptoms involved with patau syndrome?

Trisomy 13: Patau syndrome is also known as trisomy 13. This is an extra chromosome 13 and leads to intellectual and physical disabilities. Heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes, extra fingers and/or toes, cleft lip with or without a cleft palate, and weak muscle tone. Approximately 5-10% of children live beyond the first year of life. ...Read more

Dr. Karl Muench
23 doctors shared insights

Patau Syndrome (Definition)

Patau syndrome is the least common and most severe of the viable autosomal trisomies. Median survival is fewer than 3 days. First was identified as a chromosomal syndrome in 1960. Patau syndrome is caused by an extra ...Read more


2

2
My neighbors say my new doctor tends to overdiagnose everyone. He thinks I might have patau syndrome. Can you tell me the symptoms?

My neighbors say my new doctor tends to overdiagnose everyone. He thinks I might have patau syndrome. Can you tell me the symptoms?

Patau syndrome: The clinical features of patau syndrome are - mental and motor challenged, microcephaly(small brain), small eyes, cataract, retinal detachment, cortical visual loss, polydactyly (extra digits), low-set ears, prominent heel, deformed feet, overlapping of fingers over thumb, cutis aplasia (missing portion of the skin/hair), abnormal genitalia, kidney defects, heart defects. ...Read more

See 1 more doctor answer
3

3
Whats patau syndrome?

Whats patau syndrome?

What is it.: Patau's syndrome is the presence of various dysmorphic features in a child a set of three chromosomes 13. This is called trisomy, in this case, trisomy 13. ...Read more

See 1 more doctor answer
4

4
What's patau syndrome?

What's patau syndrome?

Lethal Trisomy 13.: Patau syndrome refers to a perinatally lethal condition that results from an extra chromosome 13. It usually features holoprosencephaly microcephaly cyclopia proboscis midline facial clefting heart defects omphalocele poor growth clenched fists polyhydramnios kidney anomalies and single umbilical artery. Prompt pregnancy termination should be undertaken upon prenatal diagnosis if <24 weeks. ...Read more

5

5
What causes patau syndrome?

Extra chromosome 13: 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. Symptoms include polydactyly, holoprosencephaly, coloboma of the iris, scalp defect, clenched, overlapping fingers, many midline defects, severe mental retardation, short life spans(<1yr avg) ...Read more

6

6
What causes patau syndrome?

What causes patau syndrome?

It's not: Patau syndrome arises from a non-disjunction event prevents the 18 chromosome from dividing its pair & sends 2, not one to the egg. At conception the sperm brings along another 18 & there ends up being 3. The presence of the extra 18 causes the developing fetus to misread the genetic instructions and many defects occur. ...Read more

7

7
What is patau syndrome cause?

What is patau syndrome cause?

Non-disjunction.: The majority of cases of the lethal patau or trisomy 13 syndrome are caused by nondisjunction (47, +13) related to advanced maternal age. Robertsonian translocations of either parent can increase the risk for that couple, although most affected embryos die in utero. ...Read more

8

8
How do you get patau syndrome?

It's not: Patau syndrome arises from a non-disjunction event prevents the 18 chromosome from dividing its pair & sends 2, not one to the egg. At conception the sperm brings along another 18 & there ends up being 3. The presence of the extra 18 causes the developing fetus to misread the genetic instructions and many defects occur. ...Read more

9

9
Hows patau syndrome inherited?

Hows patau syndrome inherited?

Not inherited: Patau syndrome, or trisomy 13, is not inherited, in that a baby does not "get it" from either parent. It is usually caused when the egg does not divide properly at the time of fertilization. This accident causes a baby to get an extra number 13 chromosome in every one of its cells. Trisomy 13 is rare, but a very serious condition. Most babies with it die before birth or shortly after birth. ...Read more

10

10
Who discovered patau syndrome?

T. Bartholin: Patau syndrome which is a duplication of chromosome 13 was originally described by thomas bartholin in 1657. ...Read more