Triphalangeal Thumb
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Triphalangeal Thumb
Triphalangeal thumb (TPT) is a congenital malformation where the thumb has three phalanges instead of two. The extra phalangeal bone can vary in size from that of a small pebble to a size comparable to the phalanges in non-thumb digits. The true incidence of the condition is unknown, but is estimated at 1:25,000 live births.Lapidus PW, Guidotti FP, Coletti CJ, Triphalageal thumb. Surg Gynecol Obstet, 1943 In about two-thirds of the patients with triphalangeal thumbs, there is a hereditary component.Temtamy SA, McKusick VA, the genetics of hand malformations, Birth defects Orig Artic Ser, 1978 Besides the three phalanges, there can also be other malformations. It was first described by Columbi in 1559.H. Kelikian, Hyperphalangism, congenital deformities of the hand and forearm, 1974 Signs and symptoms The triphalangeal thumb has a different appearance than normal thumbs. The appearance can differ widely; the thumb can be a longer thumb, it can be deviated in the radio-ulnar plane ...
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Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ...
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Holt–Oram Syndrome
Holt–Oram syndrome (also called atrio-digital syndrome, atriodigital dysplasia, cardiac-limb syndrome, heart-hand syndrome type 1, HOS, ventriculo-radial syndrome) is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) 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. Presentation All people with Holt-Oram syndrome have, at least one, abnormal wrist bone, which can often only be detected by X-ray. Other bone abnormalities are associated with the syndrome. These vary widely in severity, and include a missing thumb, a thumb that looks like a finger, upper arm bones of unequal length or underdeveloped, partial or complete absence of bones in the forearm, and abnormalities in the collar bone or shoulder blade. Bone abnormalities may affect only one side of the body or both sides; if both sides ar ...
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Congenital Disorders
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be vi ...
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Pollicization
{{Short description, Surgically turning an existing finger into a thumb Pollicization (or pollicisation) is a hand surgery technique in which a thumb is created from an existing finger. Typically this consists of surgically migrating the index finger to the position of the thumb in patients who are either born without a functional thumb (most common) or in patients who have lost their thumb traumatically and are not amenable to other preferred methods of thumb reconstruction such as toe-to-hand transfers. During pollicization the index finger metacarpal bone is cut and the finger is rotated approximately 120 to 160 degrees and replaced at the base of the hand at the usual position of the thumb. The arteries and veins are left attached. If nerves and tendons are available from the previous thumb these are attached to provide sensation and movement to the new thumb ("neopollex"). If the thumb is congenitally absent other tendons from the migrated index finger may be shortened and rer ...
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Osteotomy
An osteotomy is a surgical operation whereby a bone is cut to shorten or lengthen it or to change its alignment. It is sometimes performed to correct a hallux valgus, or to straighten a bone that has healed crookedly following a fracture. It is also used to correct a coxa vara, genu valgum, and genu varum. The operation is done under a general anaesthetic. Osteotomy is one method to relieve pain of arthritis, especially of the hip and knee. It is being replaced by joint replacement in the older patient. Due to the serious nature of this procedure, recovery may be extensive. Careful consultation with a physician is important in order to ensure proper planning during a recovery phase. Tools exist to assist recovering patients who may have non–weight bearing requirements and include bedpans, dressing sticks, long-handled shoe-horns, grabbers/reachers and specialized walkers and wheelchairs. Osteotomies of the hip Two main types of osteotomies are used in the correction of hip d ...
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Interphalangeal Articulations Of Hand
The interphalangeal joints of the hand are the hinge joints between the phalanges of the fingers that provide flexion towards the palm of the hand. There are two sets in each finger (except in the thumb, which has only one joint): * "proximal interphalangeal joints" (PIJ or PIP), those between the first (also called proximal) and second (intermediate) phalanges * "distal interphalangeal joints" (DIJ or DIP), those between the second (intermediate) and third (distal) phalanges Anatomically, the proximal and distal interphalangeal joints are very similar. There are some minor differences in how the palmar plates are attached proximally and in the segmentation of the flexor tendon sheath, but the major differences are the smaller dimension and reduced mobility of the distal joint. Joint structure The PIP joint exhibits great lateral stability. Its transverse diameter is greater than its antero-posterior diameter and its thick collateral ligaments are tight in all positions duri ...
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Arthrodesis
Arthrodesis, also known as artificial ankylosis or syndesis, is the artificial induction of joint ossification between two bones by surgery. This is done to relieve intractable pain in a joint which cannot be managed by pain medication, splints, or other normally indicated treatments. The typical causes of such pain are fractures which disrupt the joint, severe sprains, and arthritis. It is most commonly performed on joints in the spine, hand, ankle, and foot. Historically, knee and hip arthrodeses were also performed as pain-relieving procedures, but with the great successes achieved in hip and knee arthroplasty, arthrodesis of these large joints has fallen out of favour as a primary procedure, and now is only used as a procedure of last resort in some failed arthroplasties. Method Arthrodesis can be done in several ways: * A bone graft can be created between the two bones using a bone from elsewhere in the person's body (autograft) or using donor bone (allograft) from a ...
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Radial Collateral Ligament Of Thumb
The radial collateral ligament of the thumb extends from the first metacarpal head to the proximal phalanx of the thumb. It is located on the radial Radial is a geometric term of location which may refer to: Mathematics and Direction * Vector (geometric), a line * Radius, adjective form of * Radial distance, a directional coordinate in a polar coordinate system * Radial set * A bearing f ... side of the joint and is weaker than the ulnar collateral ligament of the thumb.Image


References


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Ulnar Collateral Ligament Of Thumb
The ulnar collateral ligament of the thumb runs along the ulnar side of the metacarpo-phalangeal joint of the thumb. The ulnar collateral ligament is an important stabilizer of the thumb. It is on the ''radial'' side of the wrist, but on the ''ulnar'' side of the thumb. It should not be confused with the ulnar collateral ligament of wrist joint. Clinical significance Injuries to it cause instability and loss of function of the thumb. Acutely this injury is known as the Skier's thumb or if the result of chronic injury Gamekeeper's thumb Gamekeeper's thumb (also known as skier's thumb or UCL tear) is a type of injury to the ulnar collateral ligament (UCL) of the thumb. The UCL may be merely stretched, or it may be torn from its insertion site into the proximal phalanx of the thum .... References Ligaments {{Ligament-stub ...
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Syndactyly
Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and diprotodontia, but is an unusual condition in humans. The term is from Greek σύν, ''syn'' 'together' and δάκτυλος, ''daktulos'' 'finger'. Classification Syndactyly can be simple or complex. * In simple syndactyly, adjacent fingers or toes are joined by soft tissue. * In complex syndactyly, the bones of adjacent digits are fused. The kangaroo exhibits complex syndactyly. Syndactyly can be complete or incomplete. * In complete syndactyly, the skin is joined all the way to the tip of the involved digits. * In incomplete syndactyly, the skin is only joined part of the distance to the tip of the involved digits. Complex syndactyly occurs as part of a syndrome (such as Apert syndrome) and typically involves more digits than simple syndactyly. Fenestrated syndactyly, also known as acrosyndactyly or terminal syndactyly, means the skin is joine ...
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Townes–Brocks Syndrome
Townes–Brocks syndrome (TBS) is a rare genetic disease that has been described in approximately 200 cases in the published literature. It affects both males and females equally.Contact a Family
The condition was first identified in 1972. by Philip L. Townes, who was at the time a human geneticists and Professor of Pediatrics, and Eric Brocks, who was at the time a medical student, both at the University of Rochester.


Signs and symptoms

TBS patients may have the following symptoms:Nati ...
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Diamond–Blackfan Anemia
Diamond–Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. DBA causes low red blood cell counts (anemia), without substantially affecting the other blood components (the platelets and the white blood cells), which are usually normal. This is in contrast to Shwachman–Bodian–Diamond syndrome, in which the bone marrow defect results primarily in neutropenia, and Fanconi anemia, where all cell lines are affected resulting in pancytopenia. A variety of other congenital abnormalities may also occur in DBA. Signs and symptoms Diamond–Blackfan anemia is characterized by normocytic or macrocytic anemia (low red blood cell counts) with decreased erythroid progenitor cells in the bone marrow. This usually develops during the neonatal period. About 47% of affected individuals also have a variety of congenital abnormalities, including craniofacial malformations, thumb or upper limb abnormalities, cardiac defects, urogenital malformations, and ...
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