What is Patau Syndrome?

Trisomy 13 is a genetic disorder that causes Patau Syndrome. The hallmark of Patau Syndrome is dysmorphic facial features and congenital anomalies in the brain, limbs, and heart (ventricular septal defect, atrial septal defect, tetralogy of Fallot). Patients can present with micro/anophthalmia (small eyes/no eyes), cleft lip and/or palate, holoprosencephaly (unseparated brain hemispheres), cutis aplasia (bald spot), or polydactyly. More information about Patau Syndrome may be found on the NIH’s website: https://www.ncbi.nlm.nih.gov/books/NBK538347/

What is the prevalence of Patau Syndrome?
The estimated incidence of Patau Syndrome is 1 in 5,000 children worldwide. Most cases of Patau syndrome end in fetal death before 20 weeks or stillbirth.

How is Patau Syndrome diagnosed?
Patau Syndrome is diagnosed based on karyotype after the infant is born, which is a type of test that displays the extra copy of chromosome 13 that causes the defects in Patau syndrome. Prenatally, the diagnosis can be made using a chorionic villi sample, which is when a needle enters the abdomen and extracts fluid from the amniotic sac, which is then tested for trisomy 13. Prenatal ultrasound can also detect congenital anomalies like holoprosencephaly.

Is there any specific gene/pathway in Patau Syndrome that has been identified?
Patau Syndrome is caused by an extra chromosome 13. This leads to increased transcription of genes (production of proteins) that are found on chromosome 13. The aberrant increase in protein production leads to an overall variety of congenital abnormalities and defects.

How is Patau Syndrome treated?
There is currently no cure for Patau Syndrome. Treatment is centered on symptomatic management and prolonging survival by providing specialized dietary feeds, seizure medications, prophylactic antibiotics, and hearing aids. More information on treatment may be found here: https://rarediseases.org/rare-diseases/

Are there any clinical trials underway for Patau Syndrome?
The National Institutes of Health (NIH) has completed 0 clinical trials for Patau Syndrome. Currently, there are 0 clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/

How can RareShare be helpful to Patau Syndrome patients and families?

The Patau Syndrome community has 2 members. There is currently 1 active discussion underway. New discussions can help to connect patients, health workers, caregivers, and families interested in Patau Syndrome and provide them continual access to community resources: https://rareshare.org/communities/trisomy-13