Congenital limb deformities

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Congenital limb deformities

Congenital limb deformities are congenital musculoskeletal disorders which primarily affect the upper and lower limbs.

An example is polydactyly, where a foot or hand has more than 5 digits.

Clubfoot, 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. [1]

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. [2] This category includes amelia, ectrodactyly, radial dysplasia, and phocomelia 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. [3]

A wide variety of abnormalities of the hands and feet, including the nails and the creases of the hand, have been described and differentiated. [4] 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 is commonly associated with Down syndrome.

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Holt–Oram syndrome Medical condition

Holt–Oram syndrome is an autosomal dominant disorder that affects bones in the arms and hands and often causes heart problems. The syndrome may include an absent radial bone in the forearm, an atrial septal defect in the heart, or heart block. It affects approximately 1 in 100,000 people.

Duane-radial ray syndrome Medical condition

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Ollier disease Medical condition

Ollier disease is a rare sporadic nonhereditary skeletal disorder in which typically benign cartilaginous tumors (enchondromas) develop near the growth plate cartilage. This is caused by cartilage rests that grow and reside within the metaphysis or diaphysis and eventually mineralize over time to form multiple enchondromas. Key signs of the disorder include asymmetry and shortening of the limb as well as an increased thickness of the bone margin. These symptoms are typically first visible during early childhood with the mean age of diagnosis being 13 years of age. Many patients with Ollier disease are prone to develop other malignancies including bone sarcomas that necessitate treatment and the removal of malignant bone neoplasm. Cases in patients with Ollier disease has shown a link to IDH1, IDH2, and PTH1R gene mutations. Currently, there are no forms of treatment for the underlying condition of Ollier disease but complications such as fractures, deformities, malignancies that arise from it can be treated through surgical procedures. The prevalence of this condition is estimated at around 1 in 100,000. It is unclear whether the men or women are more affected by this disorder due to conflicting case studies.

Congenital amputation is birth without a limb or limbs, or without a part of a limb or limbs.

Klippel–Trénaunay syndrome Medical condition

Klippel–Trénaunay syndrome, formerly Klippel–Trénaunay–Weber syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. The three main features are nevus flammeus, venous and lymphatic malformations, and soft-tissue hypertrophy of the affected limb. It is similar to, though distinctly separate from, the less common Parkes Weber syndrome.

Smith–Fineman–Myers syndrome Medical condition

Smith–Fineman–Myers syndrome (SFMS1) is a congenital disorder that causes birth defects. This syndrome was named after Richard D. Smith, Robert M. Fineman and Gart G. Myers who discovered it around 1980.

Ectrodactyly Medical condition

Ectrodactyly, split hand, or cleft hand 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 malformation (SHFM). The hands and feet of people with ectrodactyly (ectrodactyls) are often described as "claw-like" and may include only the thumb and one finger with similar abnormalities of the feet.

Constriction ring syndrome Medical condition

Constriction ring syndrome (CRS) is a congenital disorder with unknown cause. Because of the unknown cause there are many different, and sometimes incorrect names. It is a malformation due to intrauterine bands or rings that give deep grooves in, most commonly, distal extremities like fingers and toes. In rare cases the constriction ring can form around other parts of the fetus and cause amputation or even intrauterine death. The anatomy proximal to the site of constriction is developmentally normal. CRS can be associated with other malformations with club foot being most common. The precise configuration of the bands, lymphedema, and character of the amputations are not predictable and vary with each individual patient. Also more than one extremity is usually affected, and it is rare for only one ring to present as an isolated malformation with no other manifestation of this syndrome.

Hecht Scott syndrome is a rare genetic disease that causes congenital limb formation. The main characterisation is the aplasia or hypoplasia of bones of the limb. It is currently presenting in less than 1 in 1,000,000 newborns. It has been known to be more commonly present in males. It was first diagnosed in 2005 by Courtens et al. who recognised the malformations with his present case and four others that were similarly described in literature.

References

  1. Dobbs, Matthew B.; Gurnett, Christina A. (18 February 2009). "Update on clubfoot: etiology and treatment". Clinical Orthopaedics and Related Research. 467 (5): 1146–1153. doi:10.1007/s11999-009-0734-9. ISSN   1528-1132. PMC   2664438 . PMID   19224303.
  2. "Facts about Upper and Lower Limb Reduction Defects". Center for Disease Control and Prevention. October 26, 2020. Retrieved March 18, 2021.
  3. "Chapter 4.9b: Congenital Malformations and Deformations of the Musculoskeletal System: Limb Reduction Defects/Limb Deficiencies". Birth Defects Surveillance: A Manual for Programme Managers. Center for Disease Control and Prevention. November 27, 2020. Retrieved March 18, 2021.
  4. Biesecker, Leslie G.; Aase, John M.; Clericuzio, Carol; Gurrieri, Fiorella; Temple, I. Karen; Toriello, Helga. "Elements of morphology: Standard terminology for the hands and feet". Am. J. Med. Genet. A. PMC   3224990 . PMID   19125433.
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