Trisomy 18 (Edward's Syndrome) Disease

About Gene:

Trisomy 18 is a chromosomal aberration where affected individuals have an extra copy of chromosome 18. Affected individuals have defects in heart and organ development in addition to other conditions. Most babies do not survive after birth, and some live up to 1 month. 5-10% of individuals live longer but have severe intellectual difficulties. Some individuals (about 5%) may also have mosaic trisomy, where some cells have the extra chromosome whereas others are typical. In this case, the condition may vary from being normal to severely affected. In some individuals, the extra chromosome 18 material is not present as a distinct extra chromosome, but is present attached to other chromosomes- a phenomenon known as translocation. In these cases, the symptoms are usually milder. It occurs in about 1 to 5000 live births.

Number of Patients: 1

Disease Causing Genes:

GSTM1 VEGFA BCL2 TP53 IGF1R APP MAPT MTHFR GATA1 MYC NOTCH1 JAK2 NFATC1 KIT SERPINB2 NPM1 CCND1 FAS ITGB1 CREBBP COL1A1 VAPA TFAP2B PGF ITGB2 BMP2 SHH KMT2A LBH AFP MYD88 ERG ADAM12 AHSG CBS MTR CD34 LCA5L PAPPA SLC19A1 FOXP1 ITGAM PTPRC NFKB2 REST TERC CTNNA1 APCDD1 FCER2 MCM3 STAG2 PRDM16 ALS2 LGALS13 CCNB2 PSMB11

Sign and Symptoms:

  1. Cleft palate
  2. Cryptorchidism
  3. Development delay
  4. Webbed neck
  5. Microcephaly
  6. Weak cry
  7. Micrognathia
  8. Short stature
  9. Dolichocephaly
  10. Atrial septal defect
  11. Ventricular septal defect
  12. Abnormal dermatoglyphics
  13. Anal atresia
  14. Abnormal internal female genitalia
  15. Choanal atresia
  16. Oesophegal atresia
  17. Hernia
  18. Cachexia
  19. Broad forehead
  20. Finger deviation

Diagnosis:

The majority of diagnoses are made by ultrasound findings during pregnancy. Aside from this, genetic screening tests are available such as CVS (chorionic villi sample) or amniocentesis (where a sample of amniotic fluid is taken for the test). The latter two tests pose a small (0.2%) chance of potentiating miscarriage.

Preventions:

Genetic screening

Treatment:

There are no direct treatment options available for the disease. Most care is symptomatic. Efforts made to improve or extend lifespan may include feeding tubes, surgeries, medicines, breathing machines, etcetera. Parents may opt to undergo treatment to extend the lifespan of the child, or to make the child's life comfortable instead- known as "comfort care".