Congenital disorder - Citizendia

Congenital disorder Classification and external resources
MeSH	D009358

A congenital physical anomaly is an abnormality of the structure of a body part. Medical Subject Headings ( MeSH) is a huge Controlled vocabulary (or metadata system for the purpose of indexing journal articles and books 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). Clinodactyly is a medical term describing a bend or curvature of the fifth Fingers (the "little fingers" toward the adjacent fourth fingers The metacarpus is the intermediate part of the Hand Skeleton that is located between the Phalanges (bones of the fingers Distally and the The metatarsus consists of the five long Bones of the Foot, which are numbered from the medial side ( ossa metatarsalia I A sacral dimple or pilonidal dimple is a small hole located just above the buttocks 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. In Medicine and Psychology, the term syndrome refers to the association of several clinically recognizable features signs (observed by a physician

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). An autosome is a non-sex Chromosome. It is an ordinarily paired type of chromosome that is the same in both Sexes of a species. 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. Inborn errors of metabolism comprise a large class of genetic Diseases involving disorders of Metabolism. Most of these are single gene defects, usually heritable. Many affect the structure of body parts but some simply affect the function.

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