Defect in the organs or tissues of the urinary system or in the sex organs (genitals). In polycystic kidney disease (an inherited disease), cysts of varying size enlarge one or both kidneys. Kidneys may have abnormal shapes or may be fused. In megaloureter, the ureter's diameter is enlarged. Males may have epispadias or hypospadias, in which the urethra opens on the upper surface or the underside, respectively, of the penis, or cryptorchidism (undescended testicles), in which one or both testes have not descended from the abdomen into the scrotum before birth. Female genital system malformations include agenesis of the ovaries, vagina, or uterus and abnormally shaped uterus.
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A large group of disorders arising during development that cause abnormality of the human body. Most are due to genetic factors such as inherited or spontaneous mutations, whereas others are caused by environmental influences during pregnancy such as exposure to harmful chemicals. The most severe and lethal disorders arise during the first 28 days of development and include gross brain anomalies and heart defects. The mildest malformations occur in the late stages of development and are often the result of dominant inheritance, whereas complex congenital syndromes are often the result of recessive inheritance. Seealso birth defect; Down syndrome.
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