The signs of Patau syndrome become evident at birth. Although microphthalmia, cleft palate and polydactyly constitute the classic triad of trisomy 13 , not all three signs are present in all cases of Patau syndrome. The neonate presents with variable physical defects, and upon further assessment, cardiac, neurological, renal and ocular anomalies. Some of these anomalies are listed here    :
- Rocker-bottom feet
- Single palmar crease
- Neural tube defects
- Hypoplasia of the cerebellum
- Spinal dysraphism
These clinical findings at birth are indicative of Patau syndrome. However, diagnosis must only be made when trisomy 13 is evident on karyotyping. Parents who opt for screening of fetal chromosomal defects can find if the fetus has an extra chromosome 13 before birth. They, then, have the option of continuing or terminating the pregnancy.
The clinical signs of Patau syndrome are similar to those of Edwards syndrome . Care must be taken, as this similarity often leads to misdiagnosis.
Entire Body System
Atrial Septal Defect
septal defect), complete holoprosencephaly (4 cases), ear abnormalities (11 cases), broad nasal root (10 cases). [ncbi.nlm.nih.gov]
There are often signs of congenital heart disease, such as: Abnormal placement of the heart toward the right side of the chest instead of the left Atrial septal defect Patent ductus arteriosus Ventricular septal defect Gastrointestinal x-rays or ultrasound [nlm.nih.gov]
[…] view 350 KB version view 9 KB version A newborn male with full trisomy 13 (Patau syndrome). this baby has a cleft palate, atrial septal defect, inguinal hernia, and postaxial polydactyly of the left hand. view 255 KB version view 25 KB version An individual [medgen.genetics.utah.edu]
Multiple Congenital Anomalies
Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. [ncbi.nlm.nih.gov]
Entry H01562 Disease Name Patau syndrome; Trisomy 13 Description Patau syndrome, also known as trisomy 13, is a chromosomal disorder characterized by the severe clinical picture of multiple congenital anomalies. [genome.jp]
Wagner: Multiple congenital anomaly caused by an extra autosome. The Lancet, London, 1960, I: 790. What is an eponym? An eponym is a word derived from the name of a person, whether real or fictional. [whonamedit.com]
Trisomy 13 is a severe syndrome with multiple congenital anomalies and a poor prognosis. Of the rare fetuses that survive to term, most die in the first week of life and 5% survive to 6 months of age. [clinicaladvisor.com]
Available from: Incidence of Patau syndrome More Details (Trisomy 13) is 1/5000 births and it is the most severe of the three autosomal trisomies that can lead to live born infants.  This syndrome is characterized by multiple congenital anomalies involving [ijri.org]
Single Transverse Palmar Crease
A single transverse palmar crease, polydactyly, and hyperconvex narrow fingernails are also common. About 80% of cases have severe congenital cardiovascular anomalies ; dextrocardia is common. [merckmanuals.com]
Failure to Thrive
Infants who survive to one year have severe complications including intellectual disability, seizures and failure to thrive. [secure.ssa.gov]
[…] to Thrive: Family Wishes to Have Complete Repair. 61 Harahsheh AS...Cohen MS 31653287 2019 32 The role of ultrasound in women with a positive NIPT result for trisomy 18 and 13. 61 Zhen L...Li DZ 31759530 2019 33 Chip-Based Digital PCR Approach Provides [malacards.org]
Prognosis Trisomy 18 is associated with severe mental retardation and severe failure to thrive. 50% of patients die by one week of life, and 90% of patients die by one year of life. [pedclerk.bsd.uchicago.edu]
Face, Head & Neck
The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex soles, ocular hypertelorism, a low nasal bridge, numerous hemangiomas distributed throughout the body, cardiomegaly, and perimembranous inter-ventricular [ncbi.nlm.nih.gov]
[…] low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence of an additional (third) chromosome on an otherwise diploid chromosome 13 with variable abnormalities, most characteristic of which are microcephaly, microphthalmia, hypertelorism [icd9data.com]
The face may also be characterized by prominent glabellae, ocular hypertelorism, anophthalmia, and micrognathia (Borges-Osório and Robinson, 2001). Our patient had prominent glabellae, ocular hypertelorism and low-set ears. [funpecrp.com.br]
Facial anomalies are variable and may range in severity from hypertelorism and premaxillary agenesis (80% of cases) to cebocephaly or cyclopia with absence of the nasal skeleton. [orpha.net]
[…] stapedial artery 5 retinal dysplasia 3 spinal anomalies spina bifida intrauterine growth restriction (IUGR): tends to be early abnormal facies: 90%, strong marker cleft lip /- palate: 45% 9 microphthalmia: rarely anophthalmia 10 micrognathia 6 hypotelorism hypertelorism [radiopaedia.org]
Other characteristics may include a short neck; loose skin folds over the back of the neck; and/or the presence of a benign lesion or birthmark consisting of abnormal clusters of blood vessels (capillary hemangiomas), most frequently on the center of [rarediseases.org]
The 8 year old white male presented with psychomotor retardation, tethered cord, soft, fleshy ears, and normal facial features except for thin lips. [ncbi.nlm.nih.gov]
The major clinical findings include cryptorchidism, abnormal auricles, congenital heart defects, polydactyly, microphthalmia, and micrognathia. [genome.jp]
[…] hypotelorism hypertelorism cyclopia proboscis skeletal abnormalities polydactyly: 70% (tends to be post-axial) rocker bottom feet clenched hands /- overlapping digits abdominal wall abnormalities bladder exstrophy omphalocele genitourinary anomalies cryptorchidism [radiopaedia.org]
Genitals are frequently abnormal in both sexes; cryptorchidism and an abnormal scrotum occur in boys, and a bicornuate uterus occurs in girls. [merckmanuals.com]
[…] with findings indicative of syndrome including severe mental retardation microphthalmia microcephaly micrognathia cleft lip/palate clenched hands with overlapping fingers decreased muscle tone abnormal forebrain structures holoprosencephaly polydactyly cryptorchidism [medbullets.com]
[…] small head size), cleft lip and/or cleft palate (facial and/or oral defect), omphalocele (abdominal defect), spina bifida (open spine defect), microphthalmia (small eyes), anophthalmia (absent eyes), scalp defects, polydactyly (extra fingers and toes), cryptorchidism [health.state.mn.us]
The clinical diagnosis of Patau syndrome is made either prenatally or at birth. In both cases, evidence of trisomy 13 on cytogenetic analysis is a sure diagnosis of Patau syndrome.
Prenatally, cytogenetic analysis can be done using chorionic villous sampling (10-13 weeks' gestation) or amniocentesis (15 weeks' gestation or later). Non-invasive methods like cfDNA from maternal blood are highly sensitive and specific, and therefore, promising .
After birth, conventional cytogenetic or FISH (Fluorescence in Situ Hybridization) studies can show trisomy 13. FISH can describe some chromosomal anomalies more accurately.
A cytogenetic analysis may reveal free trisomy 13, partial trisomy 13 or Robertsonian translocation . Free trisomy 13 rarely recurs. However, the latter two variants have a high risk of recurrence, and therefore, should be followed with cytogenetic analysis of parents. Genetic counseling should be recommended to parents with high risk of recurrence.
A neonate with Patau syndrome requires detailed workup to evaluate the severity of the condition. All systems, especially CNS and heart, should be assessed through metabolic workup and imaging studies.
Parents of such children should be recommended psychological therapy and genetic counseling. They should also be connected to support groups, comprising of other parents whose children also suffered from Patau syndrome .
Patau syndrome, like other trisomies, has no treatment. Therapy aims to support defective organs of the body, prevent complications and prolong survival of the neonate. Despite that, the prognosis remains poor.
Patau syndrome is rare, with the incidence of about 1-2 cases from 10,000 births. It is the third most frequent trisomy among live births . Like other trisomies, it is linked to maternal age  . Significant bias on basis of race or ethnicity is not evident.
Gender: Males have a decreased prognosis of survival compared to females, both at birth and later in life  .
Age: Patau syndrome is a congenital syndrome, and is present prenatally. It may be diagnosed prenatally or at birth.
The most frequent form of Patau syndrome is free trisomy 13 , in which all cells of the neonate contain an extra copy of chromosome 13. In a rarer type of trisomy 13, called mosaic trisomy 13, some cells of the neonate’s body contain three copies of chromosome 13, while some are normal.
Robertsonian translocation of chromosome 13 to another chromosome constitutes of the third and the rarest type of trisomy 13 found in neonates with Patau syndrome.
There is no guideline for the prevetion of Patau syndrome.
Patau syndrome, more specifically known as trisomy 13, is a severe condition of newborns who have an extra copy of chromosome 13. It is characterized by structural defects, poor neurological performance, heart anomalies and other conditions at birth. Although rare compared to other trisomies, it is untreatable and holds a poor prognosis for the newborn.
Patau syndrome is a genetic defect that presents at birth as physical, neurological, cardiac, ocular, renal and genital defects due to an extra copy of chromosome 13. It is very rare. It is not an inherited disease, although some of its variants have a higher risk of recurrence. Prognosis is very poor, as many children are stillborn or die within few days of birth. There is no cure for a child with Patau syndrome, but you can prevent recurrence by prenatal screening and karyotyping of future children at fetal stage.
What are the symptoms of Patau syndrome?
The symptoms are always present at birth. Children with Patau syndrome suffer from severe mental retardation, heart defects, physical deformities and other problems that make their bodies incompatible to survive. Physically, they may exhibit:
- Microphthalmia (one or both eyes smaller than normal)
- Cleft palate (a split in the roof of the mouth)
- Polydactyly (more than normal number of fingers or toes)
These three signs make up the triad of Patau syndrome. However, it should be noted that all three signs may not be present in a child suffering from Patau syndrome.
What causes this disorder?
Patau syndrome is caused by an extra copy of chromosome 13. A normal human has 23 pairs of chromosomes, i.e. only two copies of chromosome 13. A child with Patau syndrome, however, has three copies of chromosome 13 (trisomy 13).
The most common variant of trisomy 13 is free trisomy 13. Like the name suggests, the extra chromosome is not attached to another, and is present in all cells of the child. This is the most severe variant of Patau syndrome, but has a very low risk of recurrence.
The less severe variants are partial trisomy 13 and Robertsonian translocation. In partial trisomy 13, not all cells of the child have three copies of chromosome 13 while in Robertsonian translocation, only a part of the extra chromosome 13 is present as an attachment to another chromosome. Although both these variants are less severe, they have more risk of recurrence. Hence, if your child has been diagnosed with one of these two variants, there’s a high chance that your next child may also suffer from Patau syndrome.
How is it diagnosed?
Patau syndrome is diagnosed through:
- Physical exam – Your doctor will perform a physical examination of your child. Most signs are evident on physical exam. However, your doctor will recommend further tests before giving a final diagnosis of Patau syndrome.
- Genetic test – Genetic testing is a definite way to diagnose the syndrome. It allows the doctor to analyze your child’s DNA. Depending on the results of this test, your doctor may recommend a genetic test to you and your partner.
- Once the diagnosis is confirmed, your doctor may recommend further tests to assess the severity of your child’s condition.
- Blood tests – Since the body of a child suffering from Patau syndrome is incompatible with life, the blood tests will help your doctor to keep a check on your child’s body. The tests will show any problem that threatens the life of your newborn, and will enable your doctor to address it appropriately.
- Imaging studies – A child suffering from Patau syndrome does not only have physical malformations. There may be problems present inside the body, hidden from your eye. X-rays, CT scans and MRIs will help assess the condition of the internal organs of your child’s body.
What are the treatments for this disease?
There is no treatment available for Patau syndrome. Many children die before, or within a few days of birth. If your child has been diagnosed with Patau syndrome before delivery, you may choose to continue or terminate the pregnancy. Survivors suffer from severe mental retardation and health problems all their lives.
If your child had a free trisomy 13, it is rare that your next child would also suffer from Patau syndrome. However, if your child had one of the other two variants, i.e. partial trisomy 13 or Robertsonian translocation, the risk of your next child suffering from the same is high.
In the latter case, your doctor will recommend genetic testing and counseling for you and your partner. This will help you assess the risk, and prevent recurrence of Patau syndrome in your next pregnancy.
There are support groups for parents whose children had suffered from Patau syndrome. These may be helpful in reducing your anxiety and depression. Genetic counseling will help you get more information, and make an informed decision about your current or future pregnancies.
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