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Achard Syndrome
Achard syndrome is a syndrome consisting of arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. Hypermobility and subluxations of the joints, increased lateral excursion of the patellas and other findings reflect the increased ligament laxity. It is clinically similar to Marfan syndrome. Symptoms Presentation is the following: * Small thumbs * Joint laxity in hands * Joint laxity in feet * Brachycephaly Brachycephaly (derived from the Ancient Greek '' βραχύς'', 'short' and '' κεφαλή'', 'head') is the shape of a skull shorter than typical for its species. It is perceived as a desirable trait in some domesticated dog and cat breeds, ... * Short mandibular rami Diagnosis Treatment References Further reading * * * * External links Syndromes affecting joints Musculoskeletal disorders Syndromes with dysmelia Syndromes affecting the jaw {{musculoskeletal-disease-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndrome
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Arachnodactyly
Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. In some cases, the thumbs of an individual with the condition are pulled inwards towards the palm. This condition is present at birth. Causes This feature can occur on its own with no underlying health problems, or it can be associated with certain medical conditions, including Marfan syndrome, Ehlers–Danlos syndromes, Loeys–Dietz syndrome, and homocystinuria. It is also seen in congenital contractural arachnodactyly, which is caused by mutation in the gene encoding fibrillin-2 on chromosome 5q23. Notable cases It remains unconfirmed whether composer Sergei Rachmaninoff's abnormally large reach on a piano was a result of arachnodactyly due to Marfan syndrome, as the pianist exhibited no other signs of the disease. It is also uncertain if blues guitarist and vocalist Robert Johnson's ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypermobility (joints)
Hypermobility, also known as double-jointedness, describes joints that stretch farther than normal. For example, some hypermobile people can bend their thumbs backwards to their wrists, bend their knee joints backwards, put their leg behind the head or perform other contortionist "tricks". It can affect one or more joints throughout the body. Hypermobile joints are common and occur in about 10 to 25% of the population, but in a minority of people, pain and other symptoms are present. This may be a sign of what is known as joint hypermobility syndrome (JMS) or, more recently, hypermobility spectrum disorder (HSD). Hypermobile joints are a feature of genetic connective tissue disorders such as hypermobility spectrum disorder (HSD) or Ehlers–Danlos syndromes (EDS). Until new diagnostic criteria were introduced, hypermobility syndrome was sometimes considered identical to hypermobile Ehlers–Danlos syndrome (hEDS), formerly called EDS Type 3. As no genetic test can distinguish the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hand
A hand is a prehensile, multi-fingered appendage located at the end of the forearm or forelimb of primates such as humans, chimpanzees, monkeys, and lemurs. A few other vertebrates such as the koala (which has two opposable thumbs on each "hand" and fingerprints extremely similar to human fingerprints) are often described as having "hands" instead of paws on their front limbs. The raccoon is usually described as having "hands" though opposable thumbs are lacking. Some evolutionary anatomists use the term ''hand'' to refer to the appendage of digits on the forelimb more generally—for example, in the context of whether the three digits of the bird hand involved the same homologous loss of two digits as in the dinosaur hand. The human hand usually has five digits: four fingers plus one thumb; these are often referred to collectively as five fingers, however, whereby the thumb is included as one of the fingers. It has 27 bones, not including the sesamoid bone, the number o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Patella
The patella, also known as the kneecap, is a flat, rounded triangular bone which articulates with the femur (thigh bone) and covers and protects the anterior articular surface of the knee joint. The patella is found in many tetrapods, such as mice, cats, birds and dogs, but not in whales, or most reptiles. In humans, the patella is the largest sesamoid bone (i.e., embedded within a tendon or a muscle) in the body. Babies are born with a patella of soft cartilage which begins to ossify into bone at about four years of age. Structure The patella is a sesamoid bone roughly triangular in shape, with the apex of the patella facing downwards. The apex is the most inferior (lowest) part of the patella. It is pointed in shape, and gives attachment to the patellar ligament. The front and back surfaces are joined by a thin margin and towards centre by a thicker margin. The tendon of the quadriceps femoris muscle attaches to the base of the patella., with the vastus intermedius muscle ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Marfan Syndrome
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints and abnormally curved spines. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected. The severity of the symptoms is variable. MFS is caused by a mutation in ''FBN1'', one of the genes that makes fibrillin, which results in abnormal connective tissue. It is an autosomal dominant disorder. In about 75% of cases, it is inherited from a parent with the condition, while in about 25% it is a new mutation. Diagnosis is often based on the Ghent criteria. There is no known cure for MFS. Many of those with the disorder have a normal life expectancy with proper treatment. Management of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brachycephaly
Brachycephaly (derived from the Ancient Greek '' βραχύς'', 'short' and '' κεφαλή'', 'head') is the shape of a skull shorter than typical for its species. It is perceived as a desirable trait in some domesticated dog and cat breeds, notably the pug and Persian, and can be normal or abnormal in other animal species. In humans, the cephalic disorder is known as flat head syndrome, and results from premature fusion of the coronal sutures, or from external deformation. The coronal suture is the fibrous joint that unites the frontal bone with the two parietal bones of the skull. The parietal bones form the top and sides of the skull. This feature can be seen in Down syndrome. In anthropology, human populations have been characterized as either dolichocephalic (long-headed), mesaticephalic (moderate-headed), or brachycephalic (short-headed). The usefulness of the cephalic index was questioned by Giuseppe Sergi, who argued that cranial morphology provided a better mean ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ramus Of The Mandible
In anatomy, the mandible, lower jaw or jawbone is the largest, strongest and lowest bone in the human facial skeleton. It forms the lower jaw and holds the lower teeth in place. The mandible sits beneath the maxilla. It is the only movable bone of the skull (discounting the ossicles of the middle ear). It is connected to the temporal bones by the temporomandibular joints. The bone is formed in the fetus from a fusion of the left and right mandibular prominences, and the point where these sides join, the mandibular symphysis, is still visible as a faint ridge in the midline. Like other symphyses in the body, this is a midline articulation where the bones are joined by fibrocartilage, but this articulation fuses together in early childhood.Illustrated Anatomy of the Head and Neck, Fehrenbach and Herring, Elsevier, 2012, p. 59 The word "mandible" derives from the Latin word ''mandibula'', "jawbone" (literally "one used for chewing"), from '' mandere'' "to chew" and ''-bula'' (i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting Joints
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Musculoskeletal Disorders
Musculoskeletal disorders (MSDs) are injuries or pain in the human musculoskeletal system, including the joints, ligaments, muscles, nerves, tendons, and structures that support limbs, neck and back. MSDs can arise from a sudden exertion (e.g., lifting a heavy object), or they can arise from making the same motions repeatedly repetitive strain, or from repeated exposure to force, vibration, or awkward posture. Injuries and pain in the musculoskeletal system caused by acute traumatic events like a car accident or fall are not considered musculoskeletal disorders. MSDs can affect many different parts of the body including upper and lower back, neck, shoulders and extremities (arms, legs, feet, and hands). Examples of MSDs include carpal tunnel syndrome, epicondylitis, tendinitis, back pain, tension neck syndrome, and hand-arm vibration syndrome. Causes MSDs can arise from the interaction of physical factors with ergonomic, psychological, social, and occupational factors. Biomechanic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes With Dysmelia
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a syn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
