types:
- show 31 types...
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myelatelia
any developmental defect of the spinal cord
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birth defect, congenital abnormality, congenital anomaly, congenital defect, congenital disorder
a defect that is present at birth
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ablepharia
a congenital absence of eyelids (partial or complete)
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albinism
the congenital absence of pigmentation in the eyes and skin and hair
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anencephalia, anencephaly
a defect in brain development resulting in small or missing brain hemispheres
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ametria
congenital absence of the uterus
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color blindness, color vision deficiency, colour blindness, colour vision deficiency
genetic inability to distinguish differences in hue
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epispadias
a congenital abnormality in males in which the urethra is on the upper surface of the penis
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clinocephalism, clinocephaly
a congenital defect in which the top of the head is depressed (concave instead of convex)
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clinodactyly
a congenital defect in which one or more toes or fingers are abnormally positioned
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macroglossia
a congenital disorder characterized by an abnormally large tongue; often seen in cases of Down's syndrome
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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
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acrocephaly, oxycephaly
a congenital abnormality of the skull; the top of the skull assumes a cone shape
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cheiloschisis, cleft lip, harelip
a congenital cleft in the middle of the upper lip
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cleft palate
a congenital fissure of the hard palate
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amelia
congenital absence of an arm or leg
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meromelia
congenital absence of part of an arm or leg
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encephalocele
protrusion of brain tissue through a congenital fissure in the skull
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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)
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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
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plagiocephaly
congenital malformation of the skull in which the main axis of the skull is oblique
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polysomy
congenital defect of having one or more extra chromosomes in somatic cells
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hermaphrodism, hermaphroditism
congenital condition in which external genitalia and internal sex organs have both male and female characteristics
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pseudohermaphroditism
congenital condition in which a person has external genitalia of one sex and internal sex organs of the other sex
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scaphocephaly
congenital malformation of the skull which is long and narrow; frequently accompanied by mental retardation
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congenital heart defect
a birth defect involving the heart
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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
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spinocerebellar disorder
any of several congenital disorders marked by degeneration of the cerebellum and spinal cord resulting in spasticity and ataxia
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hyperdactyly, polydactyly
birth defect characterized by the presence of more than the normal number of fingers or toes
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syndactylism, syndactyly
birth defect in which there is partial or total webbing connecting two or more fingers or toes
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ankyloglossia, tongue tie
a congenital anomaly in which the mucous membrane under the tongue is too short limiting the mobility of the tongue