Patau Syndrome

Patau Syndrome: Genetic Disorder

1. Trisomy 13 Patau Syndrome ARIANNE GAY G. AYAD

2. History Was first identified and observed by Danish Physician named Thomas Bartholin . Dr. Claus Patau made asserting information and data about the disease which is why the condition is named after his name.

3. What is Patau Syndrome? a rare, serious genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body’s cells.

4. What causes Patau Syndrome? Extra DNA from chromosome 13 appearing in some or all of the body's cells. the presence of an extra chromosome 13 in all of the cells. mosaicism - the presence of an extra chromosome 13 in some of the cells. Partial trisomy - the presence of a part of an extra chromosome 13 in the cells.

5. Patau Syndrome Severely disrupts normal development and in many cases, results in miscarriage, stillbirth, or the baby dying shortly after birth. Babies with Patau syndrome grow slowly in the womb and have a low birth weight, along with a number of other serious medical problems. Facts

6. Patau Syndrome Patau syndome affects more than 9 out of 10 children (over 90%) born with Patau syndrome die during the first year. About 5- 10% of babies with less severe forms of the syndrome , such as partial or mosaictrisonomy 13, live for more than a year. Facts

7. What are the Symptoms Cleft lip or palate Polydactyl

8. microcephaly Rocker-bottom’ feet Symptoms

9. Close-set eyes Small eyes/ No eyes Symptoms

10. Kidney problems Symptoms

11. Other symptoms Heart failure No abdomen wall Malformed ears Umbilical hernia Testicles that have not descended Seizures Intellectual ability or mental retardation Hands are clenched or folded Defects In the scalp Abnormalities of the skeleton Sleep apnea Hypertension

12. Treatment & Management There is no cure for Patau syndrome. However, following measures maybe taken to fix the sympotoms : Surgeries Tube fed Occupational, physical and speech therapy

13. Prognosis More than 80% of patients do not survive beyond the first month of their lifes . Over 80% of sufferers do not live for more than the first year of their life.

14. On April 27th, 2012, born early at 33 weeks, Delainey was born.

15. Unilateral cleft lip and palate. Left eye was under developed. Heart had many defects, such as a large ASD and VSD and her left aorta was severely deformed and tapered off.  Large cystic kidneys and they were functioning at about 30% after birth. Large bellybutton hernia and mild club foot.

16. She had her cleft lip repaired at 7 months old. At about a year and some she had her palate repaired

17. She never required any heart surgery.  Her heart abnormalities resolved on their own

18. She started in home physio therapy and in home occupational therapy.

19. THANK YOU