1 an affliction in which some part of the body is misshapen or malformed [syn: deformity, misshapenness]
2 something abnormal or anomalous [syn: miscreation]
- A congenital physical anomaly is an abnormality of the structure of a body part. An anomaly may or may not be perceived as a problem condition. Many, if not most, people have one or more minor physical anomalies if examined carefully. Examples of minor anomalies can include curvature of the 5th finger (clinodactyly), a third nipple, tiny indentations of the skin near the ears (preauricular pits), shortness of the 4th metacarpal or metatarsal bones, or dimples over the lower spine (sacral dimples). Some minor anomalies may be clues to more significant internal abnormalities.
- A congenital malformation is a congenital physical anomaly that is deleterious, i.e. a structural defect perceived as a problem. A typical combination of malformations affecting more than one body part is referred to as a malformation syndrome.
- Birth defect is a widely-used term for a congenital malformation, i.e. a congenital, physical anomaly which is recognizable at birth, and which is significant enough to be considered a problem.
- Genetic disorder or diseases are all congenital, though they may not be expressed or recognized until later in life. Genetic diseases may be divided into single-gene defects, multiple-gene disorders, or chromosomal defects. Single-gene defects may arise from abnormalities of both copies of an autosomal gene (a recessive disorder) or of only one of the two copies (a dominant disorder). Some conditions result from deletions or abnormalities of a few genes located contiguously on a chromosome. Chromosomal disorders involve the loss or duplication of larger portions of a chromosome (or an entire chromosome) containing hundreds of genes. Large chromosomal abnormalities always produce effects on many different body parts and organ systems.
- A congenital metabolic disease is also referred to as an inborn error of metabolism. Most of these are single gene defects, usually heritable. Many affect the structure of body parts but some simply affect the function.
- CDC’s National Center on Birth Defects and Developmental Disabilities
- The National Library of Medicine or MEDLINE/PubMed MeSH (medical subject heading) term
- Birth Defects Are Preventable
- James F. Crow, "The High Spontaneous Mutation Rate: Is it a Health Risk?"
- American College of Medical Genetics
malformation in Arabic: عيب ولادة
malformation in Bulgarian: Вроден дефект
malformation in German: Erbkrankheit
malformation in Spanish: Enfermedad congénita
malformation in French: Maladie congénitale
malformation in Indonesian: Kelainan bawaan
malformation in Dutch: Aangeboren afwijking
malformation in Oromo: Congenital Disorder
malformation in Polish: Wady wrodzone
malformation in Portuguese: Doença congênita
malformation in Simple English: Birth defect
malformation in Serbian: Малформација
malformation in Swedish: Missbildning
malformation in Vietnamese: Bất thường bẩm sinh
malformation in Walloon: Maladeye di nexhance
absurdity, anticness, bizarreness, bizarrerie, bowlegs, camelback, cleft palate, clubfoot, crookback, curiousness, defacement, deformation, deformity, disfigurement, distortion, fantasticality, flatfoot, freakishness, grotesqueness, grotesquerie, harelip, humpback, hunchback, knock-knee, kyphosis, lordosis, malconformation, misproportion, misshape, monstrosity, monstrousness, mutilation, oddity, outlandishness, peculiarity, quaintness, queerness, singularity, splayfoot, strangeness, swayback, talipes, teratism, teratology, torticollis, truncation, valgus, weirdness, wryneck