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Anomalistics is the use of scientific methods to evaluate anomalies (phenomena that fall outside current understanding), with the aim of finding a rational explanation. [1] The term itself was coined in 1973 by Drew University anthropologist Roger W. Wescott, who defined it as being the "serious and systematic study of all phenomena that fail ...
Ebstein's anomaly; Ectopia cordis; Encephalocele; Endocardial cushion defect; Esophageal atresia; Exstrophy of the bladder; Fetal alcohol syndrome; First arch syndrome; Focal femoral hypoplasia; Gastrointestinal atresia; Gastroschisis; Holoprosencephaly; Hydranencephaly; Hydronephrosis; Hydrops fetalis; Hypoplastic left heart syndrome ...
For 20-25% of anomalies there seems to be a "multifactorial" cause, meaning a complex interaction of multiple minor genetic anomalies with environmental risk factors. Another 10–13% of anomalies have a purely environmental cause (e.g. infections, illness, or drug abuse in the mother). Only 12–25% of anomalies have a purely genetic cause.
Chromosome abnormality. A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. [1][2] These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural ...
In the natural sciences, especially in atmospheric and Earth sciences involving applied statistics, an anomaly is a persisting deviation in a physical quantity from its expected value, e.g., the systematic difference between a measurement and a trend or a model prediction. [1] Similarly, a standardized anomaly equals an anomaly divided by a ...
Teratology. Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in dysmorphology caused by teratogens. Teratogens are substances that may cause non-heritable birth defects via a toxic ...
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause ...
Neurodevelopmental disorders are a group of mental conditions affecting the development of the nervous system, which includes the brain and spinal cord. According to the American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, (DSM-5) published in 2013, these conditions generally appear in early ...