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
Cerebral Palsy
Cleft Palate
Clubfoot
Congenital Cardiac Disorders
Cystic Fibrosis
Down Syndrome
Fragile X Syndrome
Huntington's Disease
Klinefelder's Syndrome
Muscular Dystrophy
Neural Tube Defects
Sickle Cell Anemia
Spina Bifida
Tay-Sachs Disease
Turner Syndrome
From March of Dimes page:
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.
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