What is the Difference Between Edward and Patau Syndrome

The key difference between Edward and Patau syndrome is that Edward syndrome is a rare genetic disorder caused by the presence of an extra copy of chromosome 18 in all or some cells in individuals, while Patau syndrome is a rare genetic disorder caused by the presence of an extra copy of chromosome 13 in all or some cells in individuals.

A trisomy is a chromosomal condition characterized by the presence of an extra chromosome. An individual with a trisomy has 47 chromosomes instead of 46. Down syndrome, Edward syndrome, and Patau syndrome are the most common forms of trisomy.

CONTENTS

1. Overview and Key Difference
2. What is Edward Syndrome
3. What is Patau Syndrome
4. Similarities – Edward and Patau Syndrome
5. Edward vs Patau Syndrome in Tabular Form
6. Summary – Edward vs Patau Syndrome

What is Edward Syndrome?

Edward syndrome is a rare genetic disorder caused by the presence of an additional copy of chromosome 18 in all or some cells in individuals. Any parts of the body can be affected by this genetic disorder. Edward syndrome occurs in around 1 in 5000 births. Babies are normally born small and have heart defects due to Edward syndrome. The other common features are a small head, small jaw, low set ears, clenched fists with overlapping fingers, severe intellectual disability, a weak cry and minimal response to sound, congenital heart disease and kidney disease, breathing abnormalities, issues in the gastrointestinal tract and abdominal wall, hernias, and scoliosis.

Most cases of Edward syndrome are due to problems in forming the reproductive cell or problems during early development. Moreover, the rate of the disease increases with the age of the mother. In rare cases, it may be inherited from the parents of the affected person. Sometimes in Edward syndrome, not all cells have an extra chromosome. This situation is known as mosaic trisomy. The symptoms in mosaic trisomy cases may be less severe.

Ultrasounds, CVS (chorionic villus sampling), or amniocentesis can be used to diagnose Edward syndrome. Furthermore, the treatment options include cardiac treatment, assisted feeding, orthopaedic treatment, and psychosocial support.

What is Patau Syndrome?

Patau syndrome is a rare genetic disorder caused by the presence of an extra copy of chromosome 13 in all or some cells in individuals. This extra genetic material disrupts normal development and causes multiple and complex organ defects. Patau syndrome affects between 1 in 10000 and 1 in 21799 live births. Most cases of Patau syndrome are not inherited, but they occur as random events during the formation of reproductive cells. An error in cell division known as non-disjunction may result in reproductive cells with an abnormal number of chromosomes. A small number of cases of Patau syndrome are inherited.

The symptoms of Patau syndrome include cleft lip and palate, an abnormally small eye or eyes (microphthalmia), absence of 1 or both eyes (anophthalmia), reduced distance between the eyes (hypotelorism), problems with the development of the nasal passages, smaller head size (microcephaly), skin missing from the scalp, ear malformation and deafness, raised red birthmarks, abdominal wall defects, cysts in kidneys, abnormal genitalia, extra fingers or toes, and a rounded bottom to the feet.

Patau syndrome can be diagnosed through ultrasounds, screening tests such as cell-free DNA screening (NIPT), PAPP-A (pregnancy-associated plasma protein A), CVS (chorionic villus sampling), or amniocentesis. Furthermore, treatments include surgery to repair heart defects or cleft lip and cleft palate, physical, occupational, and speech therapy.

What are the Similarities Between Edward and Patau Syndrome?

• Edward and Patau syndrome are two different forms of trisomy.
• In both genetic conditions, affected individuals have 47 chromosomes.
• In both genetic conditions, most of the cases are due to problems in forming the reproductive cells. In rare cases, they may be inherited from the parents of the affected person.
• Both genetic conditions have similar diagnosis schemes.
• There is no cure for these genetic conditions; there are only supportive therapy.

What is the Difference Between Edward and Patau Syndrome?

Edward syndrome is a rare genetic disorder caused by the presence of an extra copy of chromosome 18 in all or some cells in individuals, while Patau syndrome is a rare genetic disorder caused by the presence of an extra copy of chromosome 13 in all or some cells in individuals. Thus, this the key difference between Edward and Patau syndrome. Furthermore, Edward syndrome occurs in around 1 in 5000 live births, while Patau syndrome occurs in between 1 in10000 and 1 in 21799 live births.

The below infographic presents the differences between Edward and Patau syndrome in tabular form for side-by-side comparison.

Summary – Edward vs Patau Syndrome

Edward and Patau syndrome are two different forms of trisomy. Edward syndrome is caused by the presence of an extra copy of chromosome 18 in all or some cells in individuals. Patau syndrome is caused by the presence of an extra copy of chromosome 13 in all or some cells in individuals. So, this is the key difference between Edward and Patau syndrome.

Reference:

1. “Edward’s Syndrome.” NHS Choices, NHS.
2. “Patau Syndrome.” An Overview | ScienceDirect Topics.

Image Courtesy:

1. “Overlapping fingers” By Bobjgalindo – Own work (CC BY-SA 4.0) via Commons Wikimedia
2. “Cleftlipandpalate” By James Heilman, MD – Own work (CC BY-SA 3.0) via Commons Wikimedia