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Definition
| Disease caused by an error in the individual's genetic or chromosomal makeup |
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Definition
| Any abnormality present at birth, which may be inherited or acquired during gestation. Also called a birth defect. |
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| A genetic condition that results in the lack of melatonin pigment in the body, increasing the chance of sunburn and skin cancer. |
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| A hereditary bleeding disorder caused by a deficiency of clotting factors. This is an X-linked disorder found in males. |
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| The hereditary inability to distinguish between certain colors, generally red and green. |
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| An inherited disorder in which the patient lacks the enzyme that converts galactose to glucose. |
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| A hereditary congenital disease in which the newborn child is unable to oxidize an amino acid because of a defective enzyme |
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Definition
| An inherited disorder that primarily affects Africans and African Americans. Characterized by red blood cells that become crescent shaped, rigid, sticky and fragile an cause chronic anemia |
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| A fatal hereditary congenital disease that primarily affects people of Ashkenazic Jewish origin. An enzyme deficiency causes abnormal lipid metabolism in the brain leading to mental and physical retardation. |
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Definition
| Defective cartilage formation in the fetus causing the long bones of the arm and legs are short the trunk of a normal size and the head is large |
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Definition
| A congenital condition caused by trisomy 21. Results in varying degrees of mental retardation and distinctive physical features. |
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Definition
| A congenital endocrine condition caused by the presence of an extra X chromosome in which the individual appears to be male but has small testes and enlarged breasts. |
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Definition
| A congenital anomaly characterized by the presence of extra fingers or toes. |
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Definition
| A congenital endocrine disorder caused by the lack of a second X chromosome in females. The individual appears to be female, but the ovaries do not develop. |
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Term
| ventricular septal defect |
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Definition
| Congenital defect in the septum that allows blood to be shunted between the left and right ventricles. |
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Term
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Definition
| narrowing of the aortic arch which creates increased left ventricular pressure and decreased blood pressure distal to the narrowing. |
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Term
| Patent ductus arteriosus (PDA) |
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Definition
| A defect in which the ductus arteriosus fails to close after birth |
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Definition
| Congenital cyanotic cardiac defect that includes: ventricular septal defect, dextroposition of the aorta, pulmonary stenosis, and right ventricular hypertrophy |
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Definition
| a bluish or grayish discoloration of the skin due to decreased amounts of hemoglobin in the blood |
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Definition
| a motor function disorder caused by a permanent , nonprogressive brain defect or lesion present at birth or shortly after. |
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Definition
| A congenital neural tube defect in which there is incomplete closure of the vertebral column. |
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Definition
| A developmental defect of the central nervous system in which a hernial cyst containing meninges and part of the spinal cord protrudes through a congenital cleft in the vertebral column |
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Definition
| A progressive degeneration and weakening of the skeletal muscles. |
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Term
| Duchenne's muscular dystrophy |
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Definition
| Form of muscular dystrophy that mostly affects males and primarily involves the muscles of the shoulders, hips and thighs. |
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Term
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Definition
| A narrowing of the opening of the foreskin. |
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Term
| congenital pyloric stenosis |
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Definition
| A narrowing of the pyloric sphincter at the exit of the stomach. |
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Term
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Definition
| The congital absence of autonomic ganglia in the smooth muscle wall of the distal part of the colon that causes poor or absent peristalsis, resulting in fecal accumulation and bowel dilation. |
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