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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 Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the conditio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Contractural Arachnodactyly
Congenital contractural arachnodactyly (CCA), also known as Beals–Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes. However, Beals and Hecht discovered in 1972 that, unlike Marfan's, CCA is caused by mutations to the fibrillin-2 (''FBN2'') gene rather than the fibrillin-1 (''FBN1'') gene. Signs and symptoms Signs and symptoms of CCA often resemble those of Marfan syndrome, despite the two syndromes' different causes. CCA is characterized by contractures of varying degrees, mainly involving the large joints, which are present in all affected children at birth. The contractures may be mild and tend to improve over time, but permanently bent fingers and toes (camptodactyly) are almost always present. In addition to long fingers and toes and a tall, slender body, people with CCA often have ears that appear to be cru ... [...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 dolichostenomelia, long arms, legs, Arachnodactyly, fingers, and toes. They also typically have hypermobility (joints), exceptionally flexible joints and scoliosis, 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 dura mater, 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 make 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, family history and genetic testing (DNA analysis). Th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Marfanoid
Marfanoid (or Marfanoid habitus) is a constellation of signs resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity. __TOC__ Signs and symptoms Arachnodactyly (long fingers), long limbs, scoliosis (curved spine), a hidden feature of bony lip growth towards vestibular aqueduct (which can be seen in CT scan reports), and imprecise articulation of speech due to high-arched palate are all considered Marfanoid symptoms. Language and cognition can be affected in neonatal Marfan syndrome where intellectual disability exists. Hearing may be impaired, either by conductive loss due to hypermobility of ossicles, by inflamed tympanic membrane, or sensorineurally through the vestibular aqueduct. In cases with hearing impairment, giddiness and imbalance may co-occur. Other symptoms include crowding of teeth and long or ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Loeys–Dietz Syndrome
Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta. Aneurysms and dissections also can occur in arteries other than the aorta. Because aneurysms in children tend to rupture early, children are at greater risk for dying if the syndrome is not identified. Surgery to repair aortic aneurysms is essential for treatment. It was previously believed that the life expectancy of an individual with this condition was around 30-40 years of age, however with progressive treatments such as possibilities for surgery and medications like losartan it is proven now that life expectancy can be full age with the correct medical attention and scans. There are five types of the syndrome, designated types I through V, caused by mu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Homocystinuria
Homocystinuria (HCU) is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected. Symptoms of homocystinuria can also be caused by a deficiency of vitamins B6, B12, or folate. Signs and symptoms This defect leads to a multi-systemic disorder of the connective tissue, muscles, central nervous system (CNS), and cardiovascular system. Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of the amino acid homocysteine in the serum and an increased excretion of homocysteine in the urine. Infants appear to be normal and early symptoms, if any are present, are vague. Signs and symptoms of homocystinuria that may be seen include the following: Cause It is usually caused by the deficiency of the enzyme cyst ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibrillin-2
Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue. Fibrillin is secreted into the extracellular matrix by fibroblasts and becomes incorporated into the insoluble microfibrils, which appear to provide a scaffold for deposition of elastin. Clinical aspects Marfan syndrome is a genetic disorder of the connective tissue caused by defected FBN1 gene. Mutations in FBN1 and FBN2 are also sometimes associated with adolescent idiopathic scoliosis. Types Fibrillin-1 Fibrillin-1 is a major component of the microfibrils that form a sheath surrounding the amorphous elastin. It is believed that the microfibrils are composed of end-to-end polymers of fibrillin. To date, 3 forms of fibrillin have been described. The fibrillin-1 protein was isolated by Engvall in 1986, and mutations in the FBN1 gene cause Marfan syndrome. This protein is found in humans, and its gene is found on chromosome 15. At present more than 1500 different ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sergei Rachmaninoff
Sergei Vasilyevich Rachmaninoff; in Russian pre-revolutionary script. (28 March 1943) was a Russian composer, virtuoso pianist, and Conducting, conductor. Rachmaninoff is widely considered one of the finest pianists of his day and, as a composer, one of the last great representatives of Romantic music, Romanticism in Russian classical music. Early influences of Pyotr Ilyich Tchaikovsky, Tchaikovsky, Nikolai Rimsky-Korsakov, Rimsky-Korsakov, and other Russian composers gave way to a thoroughly personal idiom notable for its song-like melody, melodicism, Music#Expression, expressiveness, dense Counterpoint, contrapuntal textures, and rich Orchestration, orchestral colours. The piano is featured prominently in Rachmaninoff's compositional output and he used his skills as a performer to fully explore the expressive and technical possibilities of the instrument. Born into a musical family, Rachmaninoff began learning the piano at the age of four. He studied piano and composition at ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ILDS
The International League of Dermatological Societies (ILDS) is a non-governmental organization that works closely with the World Health Organization. It was founded in 1935, but because of World War II no congresses were held until 1952. It is governed by the International Committee of Dermatology. The ILDS is the parent organization of the International Foundation for Dermatology, founded in 1987. After the publication of ICD-10, the ILDS produced a series of compatible extensions for use in dermatology Dermatology is the branch of medicine dealing with the Human skin, skin.''Random House Webster's Unabridged Dictionary.'' Random House, Inc. 2001. Page 537. . It is a speciality with both medical and surgical aspects. A List of dermatologists, .... References External links Official site HistoryInternational Foundation for DermatologyApplication to Dermatology of International Classification of Disease (ICD-11) Organizations established in 1935 Dermatology organi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
