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Birth Defects

Various Causes, Various Treatments

There are several etiologies of birth defects, including single gene mutations, polygenic and multifactorial conditions, chromosomal abnormalities, and teratogens, which cause growth or developmental abnormalities. These etiologies may cause both physical and functional birth defects. The diagnosis, treatment, and management of birth defects often involves a team of professionals and specialists. Among these specialists are clinical geneticists, medical geneticists, and genetic counselors. These are all genetic service providers who are trained to help make a diagnosis and identify whether a birth defect is isolated or part of a syndrome. An accurate diagnosis is of utmost importance in being able to treat the condition and anticipate any future health concerns that may arise.

Adapted from "Leading Categories of Birth Defects." March of Dimes Perinatal Data Center, 2000.

Birth Defects Estimated Incidence
Heart and circulation 1 in 115 births
Muscles and skeleton 1 in 130 births
Club foot 1 in 735 births
Cleft lip/palate 1 in 930 births
Genital and urinary tract 1 in 135 births
Nervous system and eye 1 in 235 births
Anencephaly 1 in 8,000 births
Spina bifida 1 in 2,000 births
Chromosomal syndromes 1 in 600 births
Down syndrome (Trisomy 21) 1 in 900 births
Respiratory tract 1 in 900 births
Metabolic disorders 1 in 3,500 births
PKU 1 in 12,000 births
Congenital Infections
Congenital syphilis 1 in 2,000 births
Congenital HIV infection 1 in 2,700 births
Congenital rubella syndrome 1 in 100,000 births
Rh disease 1 in 1,400 births
Fetal alcohol syndrome 1 in 1,000 births

Additional topics

Medicine EncyclopediaGenetics in Medicine - Part 1Birth Defects - Various Causes, Various Treatments, Single-gene Mutations, Autosomal Dominant Disorders, Functional Birth Defects