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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. [4] Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. [5] [6] Many birth defects are ...
Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis
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.
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
CDK13-related disorder; Celebrity worship syndrome; Central centrifugal cicatricial alopecia; Central cord syndrome; Central nervous system syndrome; Central pain syndrome; Centurion syndrome; Cerebellar cognitive affective syndrome; Cerebellar stroke syndrome; Cerebellopontine angle syndrome; Cerebral salt-wasting syndrome; Cervicocranial syndrome
Diseases and disorders VACTERL-H Vertebral abnormalities, Anal atresia, Cardiac defects, Tracheoesophageal fistula, Esophageal atresia, Renal and radial abnormalities, Limb abnormalities with Hydrocephalus VAED Vaccine-associated enhanced disease VCFS Velo cardio facial syndrome: vCJD variant Creutzfeldt–Jakob disease: VD Venereal disease: VHF
Generally, diseases outlined within the ICD-10 codes Q00-Q99 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category. The main article for this category is Congenital disorder .