Syndromes


Esophageal atresia and or esophageal atresia with a tracheo-esophageal fistula is seen in the VATER association, syndrome or complex of birth defects. Esophageal atresia is also seen in a number of other medical conditions. Below is a list of some birth defect syndromes, associations and complexes that have included esophageal atresia and or tracheo-esophageal fistula. This is not all of the associations that have listed esophageal atresia nor is it a final list of papers that have been written and described esophageal atresia with another birth defect or group of birth defects. Some of the names listed below may have 2 or more of the same birth defects seen in VATER such as seen in the group of birth defects called The Charge Association.

 

1. ACRORENAL SYNDROMES

2. CHARGE ASSOCIATION

3. CHROMOSOME 8,TRISOMY 8 MOSAICISM

4. CHROMOSOME 18, TRISOMY 18

5. CHROMOSOME 21, TRISOMY 21

6. CHROMOSOME d/u, TRIPLOIDY 69XXX/XXY

7. DI GEORGE SEQUENCE

8. ESOPHAGEAL ATRESIA, COLOBOMA TALIPES

9. FACIO-AURICULO-VERTEBRAL DYSPLASIA

10. LARYNGOTRACHEO-ESOPHAGEAL CLEFT
UNILATERAL PULMONARY HYPOPLASIA

11. MICROCEPHALY, TRACHEO-ESOPHAGEAL FISTULA HAND DEFECT

12. OPITZ-FRIAS SYNDROME

13. POTTER SEQUENCE OR SYNDROME

14. SCHISIS ASSOCIATION

15. SIRENOMELIA SEQUENCE

16. TRACHEALAGENESIS ASSOCIATION

17. TRACHEO-ESOPHAGEAL FISTULA, BAT EARS, SYMPHALANGISN/FIFTH FINGER

18. GOLDEN HARE SYNDROME

19. FANCONI ANEMIA

20. COLOBOMATA TRACHEO-ESOPHAGEAL FISTULA, HEART DEFECTS

21. APERT SYNDROME ( Acrocephalosyndactyly)

22. DOWNS SYNDROME

23. DYSKERATOSIS CONGENITA SYNDROME (esophageal stenosis)

24. FANCONI PANCYTOPENIA SYNDROME

25. MATERNAL PHENYL KETONEUREMAI EFFECTS

26. METAPHYSEAL DYSPLASIA, McKUSICK TYPE

27. MONOZYGOTIC (MZ) TWINNING AND STRUCTURAL DEFECTS-GENERAL

28. TRISOMY 18 SYNDROME

29. WAARDENBURG SYNDROME