Patau Syndrome

Patau Syndrome is a fatal genetic condition that gives rise to cardiac problems and a host of other symptoms in sufferers. Read and know all about this disorder, including its possible causes, symptoms, diagnosis and treatment options.

Patau Syndrome Definition

It is a condition in which certain or all of the cells of the body of a person contain an additional genetic material from chromosome 13. In an individual with this disorder, the chromosome 13 appears thrice instead of twice.

The disorder is also referred to as Trisomy 13, although it is actually the name of one type of Patau Syndrome. Other names for this condition include:

• Trisomic
• Trisomee
• Trisomie 13
• Trisome
• Patau’s Syndrome
• Fetal Aneuploidy
• Trisomy 13 Syndrome
• Trisomy D Syndrome

Patau Syndrome ICD9 Code

The ICD9 Code for this disorder is 758.1.

Patau Syndrome Incidence

This is an extremely rare disorder. The condition has an incidence of one in every 8,000-12,000 live births. Significant geographic or racial differences in frequency are not evident. Less than 200 babies have been detected with the condition in the U.K.

The condition has been reported to have a greater prevalence in females, possibly due to low rate of survival among males. The disorder is completely evident at birth and is expressed prenatally. It may affect people from any ethnic background.

Patau Syndrome Symptoms

Those who suffer from this disease a number of times experience problems like:

• Heart defects
• Cleft lip or palate
• Reduced muscle tone
• Additional toes or fingers
• Small or poorly developed eyes
• Abnormalities of the brain or spinal cord

Babies with this condition do not gain weight or grow in stature as much as they should. They may have problems in being fed and also suffer from episodes where they have ‘apna’ or a temporary stoppage of spontaneous breathing.

Some other features of this disorder include:

• Seizures
• Small eyes
• Hernias
• Small head
• Scalp defects
• Clenched hands
• Low-set ears
• Single palmar crease
• Small lower jaw
• Undescended testicle
• Mental retardation
• Hole, split, or cleft in the iris
• Skeletal abnormalities
• Close-set eyes, or eyes that are fused together (possible symptom)

Around 80% of babies with this disorder are likely to suffer from a congenital heart defect. The forms of cardiac defects that children with this disease may have, include:

Ventricular septal defect

It involves an aperture (opening) between the lower chambers of their heart that prevent the heart from pumping blood in a normal manner.

Atrial septal defect

It is characterized by an opening between the two upper heart chambers that makes it difficult for the heart to pump enough oxygenated (oxygen-rich) blood to the various tissues of the body.

Patent ductus arteriosis

It is another type of cardiac defect in which a channel known as ductus arteriosus, which usually closes around the time of birth, fails to close.

Dextrocardia

In this form of defect, the heart of a child is located on the right side of the chest. Occasionally, this can give rise to acute heart defects.

Some typical birth defects associated with this disorder include the following:

• Holoprosencephaly
• Kidney defects
• Omphalocele
• Skin defects of the scalp

Infants and young children with this condition commonly also suffer from:

• Seizures
• Hypertension
• Kidney defects
• Gastroesophageal reflux

In some cases, they may also experience developmental disabilities and Scoliosis (an unnatural lateral curve to the vertebral column).

Patau Syndrome Causes

Babies are usually born with 46 chromosomes, arranged in 23 pairs. Children born with Patau Syndrome have an extra copy of chromosome 13 in every cell of their body. The presence of additional genetic material from chromosome 13 may occur due to:

Trisomy 13

Also known as Trisomy D, it is a condition which each cell of the body comprises of a full additional copy of chromosome 13. In a “Partial Trisomy”, only a part of this additional chromosome is present in the cells of the body.

As aforesaid, Patau Syndrome is often referred to as Trisomy 13.

Robertsonian translocation

In this condition, each cell consists of an additional partial copy of the chromosome.

Mosaicism

In this condition, an additional chromosome 13 can be found only in some of the cells of a sufferer.

The majority of people with this condition do not inherit it. Events leading to the development of the syndrome occur in either the sperm or the egg from which the fetus forms.

Most individuals with this disease have three copies of chromosome 13 in each of their body cells, instead of only two – as can normally be found. The additional genetic substance is disruptive to their course of development and gives rise to the characteristics of Patau Syndrome. The physical characteristics of patients with Mosaic Patau Syndrome are much milder in nature than sufferers of full Patau Syndrome.

Patau Syndrome Risk Factors

People with a personal or close family history of delivery of a child with this syndrome are at a greater risk of having it. Increase in maternal age also increases the susceptibility to this disorder, although the risk is not as pronounced as in Edward’s Syndrome or Down Syndrome.

Unless one of the parents happen to be a carrier of a translocation, the risk of having another child with this disease is less than 1%. This is even lower than that of Down Syndrome – a congenital disease arisng due to the presence of an additional 21st chromosome.

Patau Syndrome Diagnosis

The diagnosis of this disease is based on the signs and symptoms exhibited by sufferers. A single umbilical artery may be evident at birth in infants with this condition. In many cases, such patients exhibit signs of congenital heart disease, such as:

• Atrial septal defect
• Ventricular septal defect
• Patent ductus arteriosus
• Abnormal placement of the heart towards the ride side of the chest

Rotation of the internal organs of affected infants may be revealed with the aid of gastrointestinal x-rays or ultrasound examinations. Ultrasounds of the heart (Echocardiogram) are very important due to high frequency of cardiac defects related with this genetic disorder.

MRI or CT scans of the head can show problems in the brain structure. Such imaging exams can reveal problems like “Holoprosencephaly” which is characterized by fusion of both sides of the brain of a suffering infant. Apart from these exams, chromosome studies can help make a definitive diagnosis of Patau Syndrome as well as distinguish between full and partial forms of the condition and also Mosaicism.

Patau Syndrome Differential Diagnosis

Infants with Edward’s Syndrome and Patau Syndrome can exhibit similar features and make it difficult for physicians to differentiate. Naturally, the differential diagnosis should aim at properly distinguishing between the symptoms of these two conditions and confirming the presence of Patau Syndrome. A mild-pregnancy ultrasound scan can reveal certain abnormalities. However, further tests like chorionic villus sampling (CVS) or Amniocentesis are required to confirm the presence of the disorder.

Patau Syndrome Treatment

The treatment of children affected by this disorder involves planning on an individual basis. The forms of cure administered to a sufferer are based on his or her particular condition. The treatment for this disorder usually aims at addressing the specific physical symptoms that affected child are born with. Many infants find it difficult to survive in the first few days or weeks after birth due to complex heart defects or acute neurological problems.

In some cases, surgery may be needed to repair cleft palate, cleft lip or heart defects. Surgical intervention is typically held back for the first few months after birth due to the high mortality rate associated with the disease.

Occupational, physical and speech therapy can help Patau syndrome patients attain their complete developmental potential.

Patau Syndrome Complications

The possible complications associated with this condition include:

• Deafness
• Seizures
• Heart failure
• Vision problems
• Feeding problems
• Breathing difficulties or lack of breathing

The complications due to this disorder begin almost immediately after birth, with many newborns suffering from heart disease.

Patau Syndrome Prognosis

The disorder has been associated with many life-threatening complications. More than 80% of patients do not survive beyond the first month of their lives. Over 80% of sufferers do not live for more than the first year of their life. Only 5-10% of children with this condition manage to live past the first year of their life. In a study conducted on 21 individuals with this condition, only one managed to live up to 21 years of age while the others only survived past 5 years of age.

However, children affected with the partial or mosaic forms of this disorder may have a fully different outcome and hence – a much better prognosis.

Patau Syndrome Prevention

The prevention of this disorder is virtually impossible as it arises due to genetic factors. Unfortunately, most babies are lost at the time of pregnancy due to the acute complications associated with this disease.

However, couples with a personal or family history if the disorder can benefit from genetic counseling that can help them determine the risk of having a child with Patau Syndrome.

Screening tests conducted in the first trimester may indicate Patau or other abnormal chromosomal conditions. Through a process known as Amniocentesis, chromosome studies of amniotic cells can detect Trisomy 13 prior to birth.

Patau Syndrome – Support Group

Family members of patients of this disease can get in touch with the support group Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) for necessary information and guidance about this disease. The contact details for this organization is as under:

SOFT President

Barb Vanherreweghe

2982 South Union Street

Rochester, NY 14624

Phone: (585) 594-4621

Toll-Free: (800) 716-SOFT (7638)

Children affected by this disorder and still managing to survive should be given the same care that other babies receive, which include visual and hearing assessments by 6-8 months of age as well as immunizations. Health problem should be treated according to their severity.

Patau Syndrome Pictures

Check out the following images that show the appearance of children affected by this syndrome.

Picture 1 – Patau Syndrome

Picture 2 – Patau Syndrome Image

Those already with a child affected with this disorder and planning another baby should get in touch with a healthcare provider. Genetic counseling can help would-be parents understand the disease, the risk of inheriting it and also the ways to care for a suffering newborn.

References:

http://www.disabled-world.com/disability/types/patau-syndrome.php

http://rarediseases.about.com/od/rarediseasesp/a/patau05.htm

http://emedicine.medscape.com/article/947706-overview

http://emedicine.medscape.com/article/947706-overview#a0199