Congenital Clasped Thumb
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Congenital Clasped Thumb
Congenital clasped thumb describes an anomaly which is characterized by a fixed thumb into the palm at the metacarpophalangeal joint in one or both hands.Miura T: Flexion deformities of the thumb. In Buck-Gramcko D (ed): Congenital Malformations of the Hand and Forearm. London, Churchill Livingstone, 1998, pp 425-429. The incidence and genetic background are unknown. A study of Weckesser et al. showed that boys are twice as often affected with congenital clasped thumb compared to girls. The anomaly is in most cases bilateral (present in both hands). A congenital clasped thumb can be an isolated anomaly, but can also be attributed to several syndromes. Causes The thumb contains five groups of muscle and/or tendons: # Extensor tendons (to stretch the thumb) # Flexor muscles/tendons (to bend the thumb) # Abductor muscles/tendons (to move the thumb outwards) # Adductor muscle (to move the thumb inwards) # Opposing muscles (to move the thumb opposite the small finger) In order for ...
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Metacarpophalangeal Joint
The metacarpophalangeal joints (MCP) are situated between the metacarpal bones and the proximal phalanges of the fingers. These joints are of the condyloid kind, formed by the reception of the rounded heads of the metacarpal bones into shallow cavities on the proximal ends of the proximal phalanges. Being condyloid, they allow the movements of flexion, extension, abduction, adduction and circumduction at the joint. Structure Ligaments Each joint has: * palmar ligaments of metacarpophalangeal articulations * collateral ligaments of metacarpophalangeal articulations Dorsal surfaces The dorsal surfaces of these joints are covered by the expansions of the Extensor tendons, together with some loose areolar tissue which connects the deep surfaces of the tendons to the bones. Function The movements which occur in these joints are flexion, extension, adduction, abduction, and circumduction; the movements of abduction and adduction are very limited, and cannot be performed while th ...
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MASA Syndrome
MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias a paraplegia known to increase stiffness spasticity in the lower limbs. This syndrome also has two other names, CRASH syndrome and Gareis-Mason syndrome. Signs and symptoms The acronym "MASA" stands for the four main signs and symptoms associated with the syndrome: (1) mental retardation (mild to moderate intellectual disability), (2) aphasia (delayed onset of speech), (3) shuffling gait, and (4) adducted thumbs characterized by cleft palate, microcephaly, and dysmyelination. Affected males may also have a variable dilatation (widening) of the third heart ventricle. MASA has five other factors including hydrocephalus. The build-up is often caused by an obstruction that prevents proper fluid drainage. Spasticity of the lower limbs, causing the muscles to stiffen or tighten, preventing normal fluid movement. Aphasia, which is when s ...
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Tendon Transfer
A tendon transfer is a surgical process in which the insertion of a tendon is moved, but the origin remains in the same location. Tendon transfer involves redistribution of muscle power, not recreation. Tendons are transferred at the distal attachment from lesser to more important functions so that the overall function is improved. Tendon transfers provide a substitute which can be permanent or temporary, when muscle function is lost either due to nerve injuries or injuries to the muscle/tendon unit. Tendon transfers are also performed to correct the imbalanced muscle tone due to spasticity resulting from injuries to the central nervous system. Principles Preoperative evaluation of the patient is required to map out functional deficits, and determine which muscles are available for transfer. Time from injury, type of injury, and success of previous treatment should also be taken into account. Electrodiagnostic studies may be useful in determining the extent of motor loss and pred ...
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Z-plasty
Z-plasty is a versatile plastic surgery technique that is used to improve the functional and cosmetic appearance of scars. It can elongate a contracted scar or rotate the scar tension line. The middle line of the Z-shaped incision (the central element) is made along the line of the greatest tension or contraction, and triangular flaps are raised on opposite sides of the two ends and then transposed. The length and angle of each flap are usually the same to avoid mismatched flaps that may be difficult to close. Some possible complications of Z-plasty include flap necrosis, haematoma (blood clot) formation under the flaps, wound infection, trapdoor effect and sloughing (necrosis) of the flap caused by wound tension and inadequate blood supply. Classification Z-plasties can be functional (elongate and relax scars) or cosmetic (realign scars to make them less noticeable). They can be single or multiple. Variations include skew and planimetric Z-plasties. Technique The transposition ...
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Flap (surgery)
Flap surgery is a technique in plastic and reconstructive surgery where any type of tissue is lifted from a donor site and moved to a recipient site with an intact blood supply. This is distinct from a graft, which does not have an intact blood supply and therefore relies on growth of new blood vessels. This is done to fill a defect such as a wound resulting from injury or surgery when the remaining tissue is unable to support a graft, or to rebuild more complex anatomic structures such as breast or jaw. Uses Flap surgery is a technique essential to plastic and reconstructive Surgery. A flap is defined as a tissue that can be moved to another site and has its own blood supply. This is in comparison to a skin graft which does not have its own blood supply and relies on vascularization from the recipient site. Flaps have many uses in wound healing and are used when wounds are large, complex, or need tissue and bulk for successful closure. Common uses: * Abdominal wall recons ...
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Multiple Pterygium Syndrome
Multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant fashion. Society Musician Patrick Henry Hughes has a type of this condition. See also * Popliteal pterygium syndrome * List of cutaneous conditions Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against t ... Datagenno - Escobar Syndrome References External links Genodermatoses Rare syndromes {{Dermatology-stub ...
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Waardenburg Syndrome
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or Heterochromia iridum, one blue eye and one brown eye), a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there is also a wider gap between the inner corners of the eyes called telecanthus, telecanthus, or dystopia canthorum. In type 3, which is rare, the arms and hands are also malformed, with Camptodactyly, permanent finger contractures or fused fingers, while in type 4, the person also has Hirschsprung's disease. There also exist at least two types (2E and PCWH) that can result in central nervous system (CNS) symptoms such as developmental delay and muscle tone abnormalities. The syndrome is caused by mutations in any of several genes that affect the Cell division, division and Cell migration, migration of neural crest cells d ...
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Adducted Thumb Syndrome
Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing malformations of the palate, thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian, the first person to describe the condition. Inheritance is believed to be autosomal recessive, caused by mutation in the CHST14 (carbohydrate sulfotransferase 14) gene. Signs and symptoms This syndrome is characterised by typical facial appearance, slight build, thin and translucent skin, severely adducted thumbs, arachnodactyly, club feet, joint instability, facial clefting and bleeding disorders, as well as heart, kidney or intestinal defects. Severe psychomotor and developmental delay and decreased muscle tone may also be present during infancy. Cognitive development during childhood is normal. Cause Diagnosis The syndrome is associated with microcephaly, arthrogryposis and cleft palate and various craniofacial, respiratory, neurological and limb abnormalities, includin ...
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Arthrogryposis
Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning "curving of joints" (', "joint"; ', late Latin form of late Greek ', "hooking"). Children born with one or more joint contractures have abnormal fibrosis of the muscle tissue causing muscle shortening, and therefore are unable to perform active extension and flexion in the affected joint or joints. AMC has been divided into three groups: amyoplasia, distal arthrogryposis, and syndromic. Amyoplasia is characterized by severe joint contractures and muscle weakness. Distal arthrogryposis mainly involves the hands and feet. Types of arthrogryposis with a primary neurological or muscle disease belong to the syndromic group. Signs and symptoms Often, every joint in a patient with arthrogryposis is affected; in 84% all limbs are involved, in 11% only the legs, and in 4% only the arms are involved. Every joint in the body, when affected, displays ...
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Abduction (kinesiology)
Motion, the process of movement, is described using specific anatomical terms. Motion includes movement of organs, joints, limbs, and specific sections of the body. The terminology used describes this motion according to its direction relative to the anatomical position of the body parts involved. Anatomists and others use a unified set of terms to describe most of the movements, although other, more specialized terms are necessary for describing unique movements such as those of the hands, feet, and eyes. In general, motion is classified according to the anatomical plane it occurs in. ''Flexion'' and ''extension'' are examples of ''angular'' motions, in which two axes of a joint are brought closer together or moved further apart. ''Rotational'' motion may occur at other joints, for example the shoulder, and are described as ''internal'' or ''external''. Other terms, such as ''elevation'' and ''depression'', describe movement above or below the horizontal plane. Many anatomic ...
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Freeman–Sheldon Syndrome
Freeman–Sheldon syndrome (FSS) is a very rare form of multiple congenital contracture (MCC) syndromes ( arthrogryposes) and is the most severe form of distal arthrogryposis (DA). It was originally described by Ernest Arthur Freeman and Joseph Harold Sheldon in 1938.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . As of 2007, only about 100 cases had been reported in medical literature. Signs and symptoms The symptoms of Freeman–Sheldon syndrome include drooping of the upper eyelids, strabismus, low-set ears, a long philtrum, gradual hearing loss, scoliosis and walking difficulties. Gastroesophageal reflux has been noted during infancy, but usually improves with age. The tongue may be small, and the limited movement of the soft palate may cause nasal speech. Often there is an H- or Y-shaped dimpling of the skin over the chin. Cause FSS is caused by genetic changes. Krakowiak et al. (1998) ma ...
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Spasticity
Spasticity () is a feature of altered skeletal muscle performance with a combination of paralysis, increased tendon reflex activity, and hypertonia. It is also colloquially referred to as an unusual "tightness", stiffness, or "pull" of muscles. Clinically, spasticity results from the loss of inhibition of motor neurons, causing excessive velocity-dependent muscle contraction. This ultimately leads to hyperreflexia, an exaggerated deep tendon reflex. Spasticity is often treated with the drug baclofen, which acts as an agonist at GABA receptors, which are inhibitory. Spastic cerebral palsy is the most common form of cerebral palsy, which is a group of permanent movement problems that do not get worse over time. GABA's inhibitory actions contribute to baclofen's efficacy as an anti-spasticity agent. Cause Spasticity mostly occurs in disorders of the central nervous system (CNS) affecting the upper motor neurons in the form of a lesion, such as spastic diplegia, or upper motor neu ...
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