Congenital limb deformities
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Congenital limb deformities are congenital
musculoskeletal The human musculoskeletal system (also known as the human locomotor system, and previously the activity system) is an organ system that gives humans the ability to move using their muscular and skeletal systems. The musculoskeletal system prov ...
disorders which primarily affect the upper and lower limbs. An example is
polydactyly Polydactyly or polydactylism (), also known as hyperdactyly, is an anomaly in humans and animals resulting in supernumerary fingers and/or toes. Polydactyly is the opposite of oligodactyly (fewer fingers or toes). Signs and symptoms In human ...
, where a foot or hand has more than 5 digits.
Clubfoot Clubfoot is a birth defect where one or both feet are rotated inward and downward. Congenital clubfoot is the most common congenital malformation of the foot with an incidence of 1 per 1000 births. In approximately 50% of cases, clubfoot aff ...
, one of the most common congenital deformities of the lower limbs, occurs approximately 1 in 1000 births. It can be treated by physical therapy, or by a combination of physical therapy and surgery. One class of congenital limb deformities, limb reduction defects, occurs when one or more limbs are undersized or missing parts. The prevalence of these defects in the United States is approximately 1 in 1900 births. This category includes amelia,
ectrodactyly Ectrodactyly, split hand, or cleft hand (derived from Greek ''ektroma'' 'abortion' and ''daktylos'' 'finger') involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformat ...
,
radial dysplasia Radial dysplasia, also known as radial club hand or radial longitudinal deficiency, is a congenital difference occurring in a longitudinal direction resulting in radial deviation of the wrist and shortening of the forearm. It can occur in different ...
, and
phocomelia Phocomelia is a condition that involves malformations of human arms and legs. Although many factors can cause phocomelia, the prominent roots come from the use of the drug thalidomide scandal, thalidomide and from genes, genetic inheritance. Occu ...
among others. These defects are more likely to be unilateral than bilateral, more likely to affect the upper limbs than lower limbs, and are associated with complex genetic syndromes about 10% of the time. A wide variety of abnormalities of the hands and feet, including the nails and the creases of the hand, have been described and differentiated. Many of these abnormalities do not have an impact on function but may be useful in diagnosing genetic syndromes; for example, the
single transverse palmar crease In humans, a single transverse palmar crease is a single crease that extends across the palm of the hand, formed by the fusion of the two palmar creases (known in palmistry as the "heart line" and the "head line"). Although it is found more freque ...
is commonly associated with
Down syndrome Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual dis ...
.


References

Congenital disorders of musculoskeletal system {{congenital-malformation-stub