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Thalidomide is a known human teratogen and carries an extremely high risk of severe, life-threatening birth defects if administered during pregnancy. It causes skeletal deformities such as amelia (absence of legs and/or arms), absence of bones, and phocomelia (malformation of the limbs).
Feet of a baby born to a mother who had taken thalidomide while pregnant. In the late 1950s and early 1960s, the use of thalidomide in 46 countries by women who were pregnant or who subsequently became pregnant resulted in the "biggest anthropogenic medical disaster ever," with more than 10,000 children born with a range of severe deformities, such as phocomelia, as well as thousands of ...
3% of newborns (US) [ 8 ] Deaths. 628,000 (2015) [ 9 ] A birth defect[ a ] is an abnormal condition that is present at birth, regardless of its cause. [ 2 ] Birth defects may result in disabilities that may be physical, intellectual, or developmental. [ 2 ] The disabilities can range from mild to severe. [ 6 ]
Fetal abnormalities are conditions that affect a fetus or embryo, are able to be diagnosed prenatally, and may be fatal or cause disease after birth. They may include aneuploidies, structural abnormalities, or neoplasms. Acardiac twin; Achondrogenesis; Achondroplasia
Willem Vrolik, a Dutch anatomist who was also curator of the "Museum Vrolikianum", which made him privy to many specimens of bodies having birth defects, coined the term "osteogenesis imperfecta" [27]: 683 in his bilingual Latin and Dutch language book on teratology, Illustrations of Human and Mammalian Embryogenesis, first published in 1849. [150]
Dup - Duplication of a gene or genes. C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length. A cherry red spot, which can be a feature of several storage disorders, including Tay–Sachs disease. Disorder. Chromosome. Mutation.
Frequency. 1 in 40,000 to 42,000 births, females more affected than males. Klippel–Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck (cervical vertebrae). [1]: 578 It can result in a limited ability to move the ...
1 in 100,000 births. Cyclopia (named after the Greek mythology character cyclopes), also known as alobar holoprosencephaly, is the most extreme form of holoprosencephaly and is a congenital disorder (birth defect) characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities.