SYNDROMES INFORMATION SHEET

1. Hydatidiform Mole - Duplicated male pronucleus or fusion with polar body; undifferentiated mass of grape-like tissue; no fetus

2. Hydrocephalus - "Water on the head"; Without treatment, severe mental retardation; with treatment (in particular in utero) can reduce mental retardation. With shunt treatment 80% of survivors are educable to normal

3. Cri du Chat Syndrome - Missing part of chromosome #5. Pronounced mental retardation, cat-like cry, microcephaly, abnormal facial features, most have shortened life span

4. Testicular Feminization - Chromosomal makeup of a male (XY), but phenotypically a female; no uterus; testicular tissue in abdomen must be removed because it has a high probability of producing cancer.

5. Club Foot - Sometimes correctable by surgery or special shoes

6. Down's Syndrome - Extra chromosome #21; shortened life expectancy; mental retardation at moderate or severe level; have other problems such as small mouth, heart defects, internal abnormalities

7. Polydactyly - extra digit on hand, foot or both; occurs 1/1000 in white population, 1/100 in black population

8. Tubal Pregnency - Occurs when a zygote implants in the walls of the fallopian tubes; normal development cannot occur; mother may die if not removed

9. Huntington's Disease - disease affects person in midlife producing a 15-year down-hill course, wasting away with jerky movements, mental problems, and near vegetative state prior to death; 50% of offspring will have the same disease

10. Tay-Sachs Disease - Lipid storage disease; high frequency in Ashkenazi Jews; seizures, psychomotor retardation, deterioration, blindness and death by age 4; no treatment but prenatal test and carrier test available

11. Amelia - No arms or legs

12. Encephalocele - Growth of a mass on the head caused by a defect of the skull; if mass contains a large amount of brain, the individual is severely handicapped

13. Spina Bifida Cystica - Very severe paralysis from cyst down, kidney problems, bladder and bowel control problems, paralysis of legs, temperature control problems, may have other complications leading to severe mental retardation

14. Spina Bifida Occulta - Mild failure of the spinal column to close--hair and spot usually over area--may cause problems and require surgery or may go unnoticed

15. Triploidy - One additional set of chromosomes (3n = 62 chromosomes); If born alive, death soon follows

16. Tetraploidy - Two additional sets of chromosomes (4n = 92 chromosomes); If born alive, death soon follows

17. Duchenne's Muscular Dystrophy - Onset in first 3 years of male child's life; clumsiness in walking, many falls by age 10 or 11, muscles so weak wheelchair or bed bound; death by age 20 usually by pulmonary infection or cardiac failure

18. Acardia - No heart

19. Trisomy 18 - One extra chromosome #18; 30% die within one month , 50% by two months, 70% by three months, 90% by one year and 99% before age 10; profoundly retarded in motor and intellectual development; none have been able to walk or talk; many severe problems, internal and external

20. Trisomy 13 - One extra chromosome #13; 50% die within one month, 65% by 3 months and 95% by age 3; 1/5000 live births; many problems including microphthalmia, cleft lip and palate, polydactyly, developmental retardation, and heart defects

21. Anencephaly - Absence of most of the brain; death in a few hours or days