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1. Common Congenital Anomalies Dr. Ahmed Mohamed MD

2. DOWN SYNDROME TRISOMY 21-

3. Incidence Approximately one in 1000 live births.

4. Genetics Trisomy 21, The frequency of trisomy increases with increasing maternal age.

5. Clinical Features Head and neck Brachycephaly Up-slanting palpebral fissures Epicanthal folds Flat nasal bridge Folded or dysplastic ears Open mouth Protruding tongue Short neck Excessive skin at the nape of neck Extremities Short broad hands Short fifth finger Incurved fifth finger Transverse palmer crease Space between first and second toe Hyper flexibility of joints

6. Neonatal features Flat facial profile Excessive skin at the nape of neck Up Slanted palpebral fissures Hypotonia Hyper flexibility of joints Dysplasia of pelvis Anomalous of ears Dysplasia of midphalanx of fifth finger Transverse palmer crease

7. Mental Retardation Almost all Down Syndrome babies have Mental Retardation. Mildly to moderately retarded . Starts in the first year of life. Average age of sitting(11 mon), and walking (26 mon) is twice the typical age. First words at 18 months. IQ declines through the first 10 years of age, reaching a plateau in adolescence that continues into adulthood.

8. Heart Disease 50 % of Down Syndrome pts have heart disease Atrioventricular septal defect VSD ( ventricular Septal Defect) ASD PDA Tetrology of Fallot Mitral valve prolapse AR, MR (Aortic Regurg , Mitral Regurg )

9. GI abnormalities 5% of cases Duodenal atresia or stenosis Imperforate anus Esophageal atresia with TE fistula is less common Hirschsprung’s disease Strong assoc with celiac disease b/w 5 – 16 % , 5 – 16 fold increase as compared to general population

10. Growth BW, length and HC are less in DS Reduced growth rate Prevalence of obesity is greater in DS Weight is less than expected for length in infants with DS, and then increases disproportion ally so that they are obese by age 3-4 yrs

11. Eye problems Most common disorders are Refractory error – 35 to 76 percent Strabismus – 25 to 57 percent Nystagmus – 18 to 22 percent Cataract occur in 5 % of newborns. Frequency increases with age.

12. Hearing loss Unilateral or bilateral Conductive, sensorineural or mixed Otitis media is a frequent problem

13. Hematologic disorders The risk of leukemia is 1 to 1.5 percent. 65% of newborn have polycythemia resulting in hypoglycemia. Risk of leukemia is also much higher than the general population.

14. Endocrine disorder Thyroid disease – Hypothyroidism occurs more frequently than hyperthyroidism. Diabetes – The risk of type 1 diabetes is three times greater than that of the general population.

15. Reproduction Women with DS are fertile and may become pregnant. Nearly all males with DS are infertile. The mechanism is impairment of spermatogenesis

16. Skin disorder Palmoplantar hyperkeratosis Seborreic dermatitis Fissured tongue Geographical tongue

17. Diagnosis Prenatal screening If no screening – It is recognized from the characteristic phenotypic features. Confirmed by Karyotype.

18. Management 1. Growth – Measurements should be plotted on the appropriate growth chart for children with DS. This will help in prevention of obesity and early diagnosis of celiac disease and hypothyroidism. 2. Cardiac disease – All newborns should be evaluated by cardiac ECHO for CHD in consultation with pediatric cardiologist. 3. Hearing – Screening to be done in the newborn period, every 6 months until 3 yrs of age and then annually.

19. Management (cont.) 4. Eye disorders - An eye exam should be performed in the newborn period or at least before 6 months of age to detect strabismus, nystagmus, and cataracts. 5. Thyroid Function – Should be done in newborn period and should be repeated at six and 12 months , and then annually. 6. Celiac Disease – Screening should begin at 2 yrs. Repeat screening if signs/Sx develop.

20. Management ( cont) Hematology – CBC with differential at birth to evaluate for polycythemia as well as WBC. Alzheimer’s disease – Adult with a Down Syndrome has earlier onset of symptoms. When diagnosis is considered, thyroid disease and possible depression should be excluded.

21. Mortality Median age of death has increased from 25 yrs in 1983 to 49 yrs in 1997, an average of 1.7 yrs increase per year. Most likely cause of death is CHD, Dementia, Hypothyroidism and Leukemia. Improved survival is because of increased placements of infants in homes and changes in treatment for common causes of death. Survival is better for males and blacks.

22. Counseling May begin when a prenatal diagnosis is made. Discuss the wide range of variability in manifestation and prognosis. Medical and educational treatments and interventions should be discussed. Initial referrals for early intervention, parent groups.

23. Gastro-intestinal malformation

24. Cleft Lip and Cleft Palate Failure of maxillary and median nasal processes to fuse during embryonic development Remember the psycho-social implications for these children and families

25. Assessment Unilateral, bilateral, midline

26. Treatment Multidisciplinary team Surgical repair Rule of 10 > 10kg, 10 weeks, 10 HGB Homecare by the family prior to surgery E-enlarge opening in nipple S-stimulate suck reflex S-swallow fluids appropriately R-rest when infant signals

27. Pre-op Teaching Remind parents that defect is operable Introduce cup, spoon feeding devices Explain restraints Elbow restraints- Remove every 2 hourly for 10-15 minutes Remove only one restrain at a time

28. Post-Op Prevent trauma to suture line – Do not allow to suck! Facilitate breathing Maintain nutrition Reduce pain to minimize crying Prevent infection Cleanse suture lines

29. Types of defects open abdominal wall (all or some of the abdominal contents noted outside the infant) closed abdominal wall (normal appearance outside the infant)

30. Open abdominal wall defects Gastroschisis Omphalocele

31. Gastroschisis Full-thickness defect of the abdominal wall exposing intestinal contents. Generally a small defect (3-6 cm). Lateral to the umbilicus. Right lateral

32. Gastroschisis 1 in 40,000 births. Male> female Infants are generally preterm or SGA Survival rates are higher than omphalocele , 95%

33. Gastroschisis Treatment involves Gastric decompression Gut rest Antibiotics Surgery

34. Omphalocele

35. Omphalocele An omphalocele is a herniation or protrusion of the abdominal contents into the base of the umbilical cord. Or Failure of the intestines to return from the umbilical cord into the abdominal cavity resulting in a transparent membrane that encapsulates intestinal tissue.

36. Omphalocele 1 in 5,500 births Male > female Frequently associated (50% - 77%) with other syndromes such as: trisomies , CHD, conjoined twins, meningomyelocele , and imperforate anus

37. Omphalocele Ranges from 2-15 cm on average. Smaller defects may be overlooked Larger defects may include spleen and liver also

38. Management: Omphalocele Saline-soaked sterile dressings should be applied immediately. painting with silver nitrate to promote eschar formation and epitheal tissue growth. Immediate surgical repair, before infection has taken place and before the tissues have been damaged by drying or by rupture of the sac, is essential for survival.

39. Management: Omphalocele Abdominal decompression and delayed feedings are important to allow the inflamed intestinal lumen to return to normal size. Antibiotics may also be used. Survival rates are high (75% - 95%).