Summary about Disease
Patau syndrome, also known as trisomy 13, is a severe genetic disorder caused by the presence of an extra copy of chromosome 13, either in whole or in part. This extra chromosome disrupts normal development, leading to multiple and complex organ defects. The condition is often fatal, with a low survival rate beyond the first year of life.
Symptoms
Symptoms of Patau syndrome vary but commonly include:
Severe intellectual disability
Heart defects (e.g., ventricular septal defect, atrial septal defect)
Brain abnormalities (e.g., holoprosencephaly)
Cleft lip and/or cleft palate
Polydactyly (extra fingers or toes)
Microcephaly (small head)
Microphthalmia (small eyes) or anophthalmia (absent eyes)
Cutis aplasia (missing skin on the scalp)
Omphalocele (abdominal organs outside the body)
Hypotonia (weak muscle tone)
Cystic kidneys
Causes
Patau syndrome is caused by the presence of an extra copy of chromosome 13. This can occur in three ways:
Trisomy 13: The most common cause, where every cell in the body has three copies of chromosome 13 instead of the usual two.
Mosaic Trisomy 13: Some cells have the extra chromosome 13, while others do not. The severity of the syndrome can vary depending on the proportion of affected cells.
Translocation Trisomy 13: Part of chromosome 13 becomes attached to another chromosome. If this chromosome is then inherited, the individual has two normal copies of chromosome 13 plus the extra piece.
Medicine Used
There is no specific cure for Patau syndrome. Treatment focuses on managing the symptoms and complications to improve the quality of life. Medicines are used to manage:
Heart conditions (e.g., diuretics, digoxin)
Seizures (anti-epileptic medication)
Infections (antibiotics)
Pain management as needed. Surgery may be necessary to correct certain physical defects like cleft lip/palate or heart defects, but the overall prognosis remains guarded.
Is Communicable
No, Patau syndrome is not a communicable disease. It is a genetic disorder caused by chromosomal abnormality and cannot be spread from person to person.
Precautions
Since Patau syndrome is a genetic condition, there are no precautions to prevent its transmission. However, genetic counseling and prenatal screening (e.g., amniocentesis, chorionic villus sampling) can help parents understand the risk of having a child with Patau syndrome and make informed decisions.
How long does an outbreak last?
Patau Syndrome is not an outbreak, and does not last. The condition is present from conception.
How is it diagnosed?
Patau syndrome can be diagnosed during pregnancy or after birth.
Prenatal Diagnosis:
Ultrasound: Can detect some physical abnormalities associated with Patau syndrome.
Amniocentesis: A sample of amniotic fluid is tested for chromosomal abnormalities.
Chorionic Villus Sampling (CVS): A sample of tissue from the placenta is tested for chromosomal abnormalities.
Non-Invasive Prenatal Testing (NIPT): A blood test from the mother to screen for certain chromosomal abnormalities in the fetus.
Postnatal Diagnosis:
Physical Examination: Newborns with Patau syndrome often have characteristic physical features.
Karyotype: A blood test to analyze the chromosomes and confirm the presence of an extra chromosome 13.
Timeline of Symptoms
Symptoms are present from birth. There isn't a timeline of symptom development, but rather the severity of existing symptoms may change over time. The condition is usually diagnosed prenatally or immediately after birth due to the evident physical abnormalities. Survival beyond infancy is rare.
Important Considerations
Ethical Considerations: Due to the severe nature of the syndrome and the low survival rate, ethical considerations arise regarding prenatal testing, treatment options, and end-of-life care.
Family Support: Families affected by Patau syndrome require extensive emotional and practical support.
Multidisciplinary Care: Management of Patau syndrome requires a multidisciplinary team of specialists, including cardiologists, neurologists, surgeons, and geneticists.
Research: Ongoing research is focused on understanding the genetic mechanisms underlying Patau syndrome and developing improved diagnostic and therapeutic strategies.