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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, 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] |
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 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 crumpled, joint stiffness and underdeveloped muscles (muscular hypoplasia), and they may have curved spines (congeni ... [...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] |
Ehlers–Danlos Syndromes
Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective-tissue disorders in the current classification, with the latest type discovered in 2018. Symptoms include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis. EDS occurs due to variations of more than 19 genes that are present at birth. The specific gene affected determines the type of EDS. Some cases result from a new variation occurring during early development, while others are inherited in an autosomal dominant or recessive manner. Typically, these variations result in defects in the structure or processing of the protein collagen. Diagnosis is often based on symptoms and confirmed by genetic testing or skin biopsy, but people may initially be misdiagnosed with hypochondriasis, depression, or chronic fatigue syn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Marfanoid
Marfanoid (or Marfanoid habitus) is a constellation of symptoms 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 l ... [...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. There are five types of the syndrome, labelled types I through V, which are distinguished by their genetic cause. Type 1, Type 2, Type 3, Type 4 and Type 5 are caused by mutations in '' TGFBR1'', ''TGFBR2'', '' SMAD3'', ''TGFB2'', and ''TGFB3'' respectively. These five genes encoding transforming growth factors play a role in cell signaling that promotes growth and development of the body's tissu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Homocystinuria
Homocystinuria or 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 cystathi ... [...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 d ... [...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 conductor. Rachmaninoff is widely considered one of the finest pianists of his day and, as a composer, one of the last great representatives of Romanticism in Russian classical music. Early influences of Tchaikovsky, Rimsky-Korsakov, and other Russian composers gave way to a thoroughly personal idiom notable for its song-like melodicism, expressiveness and rich orchestral colours. The piano is featured prominently in Rachmaninoff's compositional output and he made a point of using his skills as a performer to fully explore the expressive and technical possibilities of the instrument. Born into a musical family, Rachmaninoff took up the piano at the age of four. He studied with Anton Arensky and Sergei Taneyev at the Moscow Conservatory and graduated in 1892, having already composed several piano and orchestral pieces. In 1897, following the d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Robert Johnson
Robert Leroy Johnson (May 8, 1911August 16, 1938) was an American blues musician and songwriter. His landmark recordings in 1936 and 1937 display a combination of singing, guitar skills, and songwriting talent that has influenced later generations of musicians. Although his recording career spanned only seven months, he is now recognized as a master of the blues, particularly the Delta blues style, and is also one of the most influential musicians of the 20th century. The Rock and Roll Hall of Fame describes him as being "the first ever rock star". As a traveling performer who played mostly on street corners, in juke joints, and at Saturday night dances, Johnson had little commercial success or public recognition in his lifetime. He participated in only two recording sessions, one in San Antonio in 1936, and one in Dallas in 1937, that produced 29 distinct songs (with 13 surviving alternate takes) recorded by famed Country Music Hall of Fame producer Don Law. These songs, recor ... [...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 skin.''Random House Webster's Unabridged Dictionary.'' Random House, Inc. 2001. Page 537. . It is a speciality with both medical and surgical aspects. A dermatologist is a specialist medical .... 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] |
