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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; Adrenal hematoma; Agenesis of the corpus callosum; Amniotic band syndrome ...
A congenital heart defect (CHD), also known as a congenital heart anomaly, congenital cardiovascular malformation, and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. [7] A congenital heart defect is classed as a cardiovascular disease. [10]
Case of acephalus holoacardiacus – born without a head. Was birthed alongside a healthy twin. [3]In many cases where a major deformity is present at birth, it is the result of an underlying condition severe enough that the baby does not survive very long.
Genetic disorders are present before birth, and some genetic disorders produce birth defects, but birth defects can also be developmental rather than hereditary. The opposite of a hereditary disease is an acquired disease. Most cancers, although they involve genetic mutations to a small proportion of cells in the body, are acquired diseases.
A musculoskeletal abnormality is a disorder of the musculoskeletal system present at birth. They can be due to deformity or malformation. [1] An example is Klippel–Feil syndrome. [citation needed] Although present at birth, some only become obvious postnatally. [2]
Chromosome abnormality, atypical number of chromosomes or a structural abnormality in one or more chromosomes; Congenital abnormality, condition which is present at the time of birth which varies from the standard presentation; Craniofacial abnormality, congenital musculoskeletal disorders which primarily affect the cranium and facial bones
Neural tube defects (NTDs) are a group of birth defects in which an opening in the spine or cranium remains from early in human development. In the third week of pregnancy called gastrulation, specialized cells on the dorsal side of the embryo begin to change shape and form the neural tube.