National Toxicology Program

Many people are seeking information on specific birth defects and genetic disorders. The March of Dimes web site is one of the most complete sources of information on this subject. The following is a list of some of the most common birth defects and genetic disorders: (click on the topic to link to a web page with further information)

Amyotrophic Lateral Sclerosis (ALS) - Lou Gehrig's Disease

• http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/amyotrophiclateralsclerosis.htm
• http://www.pslgroup.com/als.htm
• http://www.alsa.org/
• http://www.mdausa.org/disease/als.html

Cerebral Palsy

• March of Dimes
• Cerebral palsy NINDS Info page
• Cerebral palsy - hope through research NINDS
• CDC info Cerebral Palsy

Cleft Palate

Clubfoot

Congenital Cardiac Disorders

• http://www.marchofdimes.com/professionals/681_1212.asp
• http://life2.tau.ac.il/GeneDis/Tables/ASD/asd.html

Cystic Fibrosis

Down Syndrome

• http://www.marchofdimes.com/professionals/681_1214.asp
• http://www.ndss.org/
• http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/hrnewborn/downs.html
• http://www.aafp.org/afp/20020301/915.html

Fragile X Syndrome

Huntington's Disease

Klinefelder's Syndrome

Muscular Dystrophy

Neural Tube Defects

• http://cerhr/common/folic-acid.html
• http://www.nlm.nih.gov/medlineplus/neuraltubedefects.html

Sickle Cell Anemia

• http://www.ascaa.org/educ.asp
• http://www.marchofdimes.com/professionals/681_1221.asp

Spina Bifida

• http://www.sbaa.org/site/PageServer?pagename=index
• http://www.marchofdimes.com/professionals/681_1224.asp

Tay-Sachs Disease

• http://www.marchofdimes.com/professionals/681_1227.asp
• http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm

Turner Syndrome

• NIH
• FAQ (Turner Syndrome society of the United States)

         From March of Dimes page:

• http://www.marchofdimes.com/professionals/681_1209.asp

Turner syndrome is a sex chromosome abnormality that affects about 1 in 2500 girls. Girls with Turner syndrome have only one X chromosome, instead of the normal two. They usually are sterile, and do not undergo normal pubertal changes unless they are treated with sex hormones. Affected girls are short, though treatment with growth and sex hormones can help increase height. Some have other health problems, including heart defects. Girls with Turner syndrome have normal intelligence, though some have difficulties with mathematics and spatial concepts.

About 1 in 1000 to 2000 females has an extra X chromosome, referred to as triple X. These girls, who tend to be tall, have no consistent pattern of physical abnormalities, undergo normal puberty, and appear to be fertile. Intelligence is normal, though learning disabilities are fairly common. Because these girls are healthy and have a normal appearance, parents are most likely to know their daughter has this chromosomal abnormality only if they've undergone prenatal testing (with amniocentesis or CVS).

Williams Syndrome

The following publication is a valuable reference for information on Genetic Disorders:

McKusick, Victor A. (Victor Almon). 1998. Mendelian inheritance in man : a catalog of human genes and genetic disorders. With the assistance of Stylianos E. Antonarakis ... [et al.] 12th Edition. Imprint. Baltimore: Johns Hopkins University Press.