congenital anomaly | | |
n. (state) | 1. birth defect, congenital abnormality, congenital anomaly, congenital defect, congenital disorder | a defect that is present at birth. |
| ~ ablepharia | a congenital absence of eyelids (partial or complete). |
| ~ albinism | the congenital absence of pigmentation in the eyes and skin and hair. |
| ~ anencephalia, anencephaly | a defect in brain development resulting in small or missing brain hemispheres. |
| ~ ametria | congenital absence of the uterus. |
| ~ color blindness, color vision deficiency, colour blindness, colour vision deficiency | genetic inability to distinguish differences in hue. |
| ~ epispadias | a congenital abnormality in males in which the urethra is on the upper surface of the penis. |
| ~ clinocephalism, clinocephaly | a congenital defect in which the top of the head is depressed (concave instead of convex). |
| ~ clinodactyly | a congenital defect in which one or more toes or fingers are abnormally positioned. |
| ~ macroglossia | a congenital disorder characterized by an abnormally large tongue; often seen in cases of Down's syndrome. |
| ~ down's syndrome, down syndrome, mongolianism, mongolism, trisomy 21 | a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation. |
| ~ acrocephaly, oxycephaly | a congenital abnormality of the skull; the top of the skull assumes a cone shape. |
| ~ cheiloschisis, cleft lip, harelip | a congenital cleft in the middle of the upper lip. |
| ~ cleft palate | a congenital fissure of the hard palate. |
| ~ defect | an imperfection in a bodily system.; "visual defects"; "this device permits detection of defects in the lungs" |
| ~ amelia | congenital absence of an arm or leg. |
| ~ meromelia | congenital absence of part of an arm or leg. |
| ~ encephalocele | protrusion of brain tissue through a congenital fissure in the skull. |
| ~ meningocele | a congenital anomaly of the central nervous system in which a sac protruding from the brain or the spinal meninges contains cerebrospinal fluid (but no nerve tissue). |
| ~ myelomeningocele | a congenital defect of the central nervous system in which a sac containing part of the spinal cord and its meninges protrude through a gap in the vertebral column; frequently accompanied by hydrocephalus and mental retardation. |
| ~ plagiocephaly | congenital malformation of the skull in which the main axis of the skull is oblique. |
| ~ polysomy | congenital defect of having one or more extra chromosomes in somatic cells. |
| ~ hermaphrodism, hermaphroditism | congenital condition in which external genitalia and internal sex organs have both male and female characteristics. |
| ~ pseudohermaphroditism | congenital condition in which a person has external genitalia of one sex and internal sex organs of the other sex. |
| ~ scaphocephaly | congenital malformation of the skull which is long and narrow; frequently accompanied by mental retardation. |
| ~ congenital heart defect | a birth defect involving the heart. |
| ~ rachischisis, schistorrhachis, spina bifida | a not uncommon congenital defect in which a vertebra is malformed; unless several vertebrae are affected or there is myelomeningocele there are few symptoms; can be diagnosed by amniocentesis. |
| ~ spinocerebellar disorder | any of several congenital disorders marked by degeneration of the cerebellum and spinal cord resulting in spasticity and ataxia. |
| ~ hyperdactyly, polydactyly | birth defect characterized by the presence of more than the normal number of fingers or toes. |
| ~ syndactylism, syndactyly | birth defect in which there is partial or total webbing connecting two or more fingers or toes. |
| ~ ankyloglossia, tongue tie | a congenital anomaly in which the mucous membrane under the tongue is too short limiting the mobility of the tongue. |
| ~ anomalousness, anomaly | deviation from the normal or common order or form or rule. |
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