congenital abnormality

Definitions of congenital abnormality
1

n a defect that is present at birth

Synonyms:
birth defect, congenital anomaly, congenital defect, congenital disorder
Types:
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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 syndrome, Down's 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
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
adactylia, adactylism, adactyly
congenital absence of fingers and/or toes
dichromacy, dichromasy, dichromatism, dichromatopsia, dichromia
a deficiency of color vision in which the person can match any given hue by mixing only two other wavelengths of light (as opposed to the three wavelengths needed by people with normal color vision)
monochromacy, monochromasy, monochromatic vision, monochromatism, monochromia
complete color blindness; colors can be differentiated only on the basis of brightness
phocomelia, seal limbs
an abnormality of development in which the upper part of an arm or leg is missing so the hands or feet are attached to the body like stumps; rare condition that results from taking thalidomide during pregnancy
septal defect
a congenital abnormality in the septum between the left and right sides of the heart
Fallot's syndrome, Fallot's tetralogy, tetralogy of Fallot
a congenital heart defect producing cyanosis; characterized by four symptoms: pulmonary stenosis and ventricular septal defect and malposition of the aorta over both ventricles and hypertrophy of the right ventricle
Type of:
defect
an imperfection in a bodily system
anomalousness, anomaly
deviation from the normal or common order or form or rule

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