inherited abnormality


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inherited abnormality

any genetically determined malfunction. These fall into two main types:
  1. those controlled by single genes where, for example, a biochemical process is disrupted by faulty enzymes coded by abnormal alleles such as those causing ALBINISM (See also INBORN ERRORS OF METABOLISM). In other cases, such as SICKLE-CELL ANAEMIA, a molecule is produced that does not function in the normal way.
  2. those produced by chromosomal changes (see CHROMOSOMAL MUTATION). Here, loss or addition of parts or of whole chromosomes can have serious effects. Changes to autosomal chromosomes (see DOWN'S SYNDROME) often produce more severe effects than to sex chromosomes (see KLINEFELTER'S SYNDROME).
References in periodicals archive ?
Marfan's Syndrome is caused by an inherited abnormality of some of the body's tissues and affects around 1 in 5,000 people.
The first is an anatomical or structural shortening, perhaps caused by a leg fracture or by an inherited abnormality. The second is a functional difference: the legs actually are the same length but the feet hit the ground differently--most often one foot rolls slightly inward (called pronation), so that the leg is effectively "shorter." In either condition, the pelvis tilts slightly, twisting the spine and vertebrae and putting a strain on the ligaments in the back.
Sickle cell disease stems from an inherited abnormality in hemoglobin -- the oxygen-carrying pigment in blood -- leading to elongated, or "sickled," red blood cells that clog the small blood vessels.