Congenital malformation


Congenital malformation: A physical defect present in a baby at birth that can involve many different parts of the body, including the brain, heart, lungs, liver, bones, and intestinal tract. Congenital malformation can be genetic, it can result from exposure of the fetus to a malforming agent (such as alcohol), or it can be of unknown origin. Congenital malformations are now the leading cause of infant mortality (death) in the US and many other developed nations. Examples include heart defects, cleft lip and palate, spina bifida, limb defects, and Down syndrome.

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  • Congenital ptosis of the eyelids

    Congenital ptosis of the eyelids: Drooping of the upper eyelids at birth. The lids may droop only slightly, or they may cover the pupils and restrict or even block vision. Moderate or severe ptosis calls for treatment to permit normal vision development. If congenital ptosis of the eyelids is not corrected, amblyopia (lazy eye) may […]

  • Congenital rubella syndrome

    Congenital rubella syndrome: The constellation of abnormalities caused by infection with the rubella (German measles) virus before birth. The syndrome is characterized by multiple congenital malformations (birth defects) and mental retardation. The individual features of the syndrome include growth retardation, microcephaly (abnormally small head), cataracts, glaucoma, microphthalmia (abnormally small eyes), cardiovascular malformations, hearing loss, and […]

  • Congenital stationary night blindness

    Congenital stationary night blindness: An inherited eye disorder that is not progressive (“stationary”) and principally affects the rod photoreceptors in the retina, impairing night vision. There may also be moderate to high myopia (short sightedness). Under good lighting conditions, there is usually no visual deficit. The disorder is diagnosed by electroretinography. There are several different […]

  • Congenital synostosis of cervicothoracic vertebrae

    Congenital synostosis of cervicothoracic vertebrae: See: Klippel-Feil sequence.

  • Congenital torticollis

    Congenital torticollis: A deformity of the neck that is present at birth. Congenital torticollis is due to shortening of the neck muscles. Congenital torticollis tilts the head to the side on which the neck muscles are shortened, so that the chin points to the other side. The shortened neck muscles are principally supplied by the […]


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