congenital abnormality

Noun
  1. A defect that is present at birth (synset 114488632)
    is a type of:
    subtypes:
    • 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
    same as: birth defect, congenital anomaly, congenital defect, congenital disorder

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