Patau Syndrome: Symptoms, Causes, Treatment
Synopsis: Patau syndrome is a genetic disorder in which a person's chromosome thirteen appears three times instead of twice. Patau syndrome occurs in approximately one out of every ten thousand to sixteen thousand infants. Most people with Patau syndrome have not inherited it, instead receiving it as a result of random events during the formation of eggs and sperm in healthy parents. Common disorders among infants and young children with Patau syndrome include difficulties with feeding, slow post-natal growth, gastroesophageal reflux, seizures, apnea, kidney defects, and hypertension. Infants and children may also experience scoliosis and developmental disabilities.
Defining Patau Syndrome
Patau syndrome also referred to as 'Trisomy 13,' is a form of a genetic disorder in which all or a portion of the person's chromosome thirteen appears three times instead of twice in the cells of their body. In some people affected by the syndrome, only a percentage of the cells may contain the extra thirteenth chromosome, referred to as 'mosaicism.' In contrast, other cells do contain the average chromosomal pair. The extra material interferes with the person's normal process of development, which leads to severe intellectual disability and physical abnormalities in several parts of their body.
The U.S. Social Security Administration (SSA) has included Patau Syndrome as a Compassionate Allowance to expedite a disability claim.
Patau syndrome occurs in approximately one out of every ten thousand to sixteen thousand infants. Most people with Patau syndrome have not inherited it, instead receiving it as a result of random events during the formation of eggs and sperm in healthy parents. Due to numerous life-threatening medical issues, many babies with Patau syndrome die in the first few days or weeks of their lives. Five to ten percent of children with Patau syndrome live past their first year.
Babies born with Patau syndrome present a recognizable pattern of physical features, often permitting medical professionals to diagnose the syndrome. Physical congenital disabilities that are notable and, at times, anatomical changes to the baby's internal organs are present. Significant findings include a small head size, referred to as 'microcephaly,' small eyes or, 'microphthalmia,' and at times, the absence of an eye or a fault in the development of the child's retina. Approximately sixty percent of children with Patau syndrome present with either a cleft palate or cleft lip. Additional findings can include variations in the child's ear shape, extra toes or fingers, and changes in the palm of the child's hand. Changes may occur in the child's heel or foot development, and they may present with a 'rocker-bottom foot.' Additional names for Patau syndrome include:
- Trisomie 13
- Fetal Aneuploidy
- Patau's Syndrome
- Trisomy D Syndrome
- Trisomy 13 Syndrome
Symptoms of Patau Syndrome
People affected by Patau syndrome many times have heart defects, small or poorly developed eyes, spinal cord or brain abnormalities, cleft lip or palate, extra toes or fingers, and decreased muscle tone. Numbers of babies with Patau syndrome do not grow or gain weight at the rate they are expected to, experience difficulties with feeding, as well as episodes where they have a temporary cessation of spontaneous breathing or 'apnea.' Additional features of Patau syndrome can include:
- Small eyes
- Small head
- Low-set ears
- Scalp defects
- Clenched hands
- Small lower jaw
- Mental retardation
- Single palmar crease
- Undescended testicle
- Skeletal abnormalities
- Hole, split, or cleft in the iris
- Close-set eyes - eyes may fuse
Approximately eighty-percent of babies with Patau syndrome will experience a congenital heart defect. The forms of heart defects children with this syndrome may experience can include ventricular septal defect, which involves an opening between the lower chambers of their heart and prevents their heart from pumping blood correctly. They may experience an atrial septal defect, an opening between the two upper chambers of their heart that makes it difficult for their heart to pump sufficient oxygen-rich blood to their body tissues. 'Patent ductus arteriosis' is another form of heart defect children with Patua syndrome may experience; it involves a defect where the lack of closure of the channel usually closes near the time of birth. They may also experience dextrocardia, the location of the child's heart on the right side of their chest, or occasion - more serious heart defects. Common and important congenital disabilities associated with Patau syndrome include:
- Kidney defects
- Skin defects of the scalp
Common disorders among infants and young children with Patau syndrome include difficulties with feeding, slow post-natal growth, gastroesophageal reflux, seizures, apnea, kidney defects, and hypertension. Infants and children may also experience scoliosis and developmental disabilities.
Causes of Patau Syndrome
Patau syndrome happens when an extra DNA from chromosome thirteen appears in some or all of the cells in a person's body. 'Mosaicism' is a condition where an extra chromosome thirteen is present only in some of the person's cells. A 'partial trisomy' occurs when a part of an extra chromosome thirteen exists in the person's cells. The extra materials interfere with the person's normal development. Most people with Patau syndrome have not inherited the syndrome. Events that have led to the syndrome happened in either the sperm or the egg which formed the fetus.
Most people with Patau syndrome have three copies of chromosome thirteen in each cell of their body instead of the usual two copies. The excess genetic material is disruptive to their development, leading to the characteristic features of Patau syndrome. The physical features of people with mosaic Patau syndrome are many times milder than persons with full Patau syndrome.
Diagnosing Patau Syndrome
Infants with Patau syndrome may present with a single umbilical artery at birth. There are often signs of congenital heart disease, such as atrial septal defect, abnormal heart placement towards the ride side of the chest, ventricular septal defect, or patent ductus arteriosus. Ultrasound or gastrointestinal X-rays might display a rotation of the infant's internal organs.
CT or MRI scans of the infant's head can show a problem with their brain structure. The problem is called 'holoprosencephaly' and involves joining both sides of the infant's brain. Chromosome studies, in addition to these tests, can help make a definitive diagnosis of Patau syndrome and differentiate between Patau syndrome, mosaicism, and partial Patau syndrome.
Treatment of Patau Syndrome
Treatment of children with Patau syndrome involves planning on a case-by-case basis. The forms of treatment a particular person receives are dependent upon the person's particular condition. Intervention through surgical means is commonly withheld for the first few months of the person's life due to the high mortality rate of children with Patau syndrome. Both parents and healthcare workers have to weigh decisions concerning extraordinary life-prolonging measures against the severity of the physical and neurological defects the child is experiencing and the likelihood of the child's post-surgical recovery or prolonged survival.
Patau syndrome involves many abnormalities that are not compatible with life. More than eighty percent of infants with the syndrome do not live past their first month. Complications due to the syndrome start nearly immediately, with many infants experiencing heart disease. Complications of Patau syndrome can include feeding problems, breathing difficulties or lack of breathing, deafness, heart failure, seizures, and vision problems.
Thomas C. Weiss is a researcher and editor for Disabled World. Thomas attended college and university courses earning a Masters, Bachelors and two Associate degrees, as well as pursing Disability Studies. As a Nursing Assistant Thomas has assisted people from a variety of racial, religious, gender, class, and age groups by providing care for people with all forms of disabilities from Multiple Sclerosis to Parkinson's; para and quadriplegia to Spina Bifida. Explore Thomas' complete biography for comprehensive insights into his background, expertise, and accomplishments.
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Cite This Page (APA): Thomas C. Weiss. (2010, February 16). Patau Syndrome: Symptoms, Causes, Treatment. Disabled World. Retrieved February 27, 2024 from www.disabled-world.com/disability/types/patau-syndrome.php
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