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.
LEADING CATEGORIES OF BIRTH DEFECTS | |
Birth Defects | Estimated Incidence |
Structural/Metabolic | |
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 |
Other | |
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