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Hypochondroplasia
Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene ('' FGFR3'') that results in a disproportionately short stature, micromeliaupdate 2013 and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism. Signs and symptoms Individuals affected by this disorder appear normal at birth. As the infant grows, however, their arms and legs do not develop properly, and their body becomes thicker and shorter than normal. The following are characteristics consistent with this condition: * Brachydactyly * Short stature * Micromelia * Skeletal dysplasia * Abnormality of femur Cause Hypochondroplasia is inherited as an autosomal dominant trait affecting the ''FGFR3'' gene on chromosome 4p16.3. There is currently no cure for this condition. Pathophysiology This disorder results from mutations in the proximal tyrosine kinase doma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Achondroplasia
Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. It is the most common cause of dwarfism and affects about 1 in 27,500 people. In those with the condition, the Rhizomelia, arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of for males and for females. Other features can include an Macrocephaly, enlarged head with Skull bossing, prominent forehead (frontal bossing) and underdevelopment of the midface (midface hypoplasia). Complications can include sleep apnea or recurrent ear infections. Achondroplasia includes the extremely rare short-limb skeletal dysplasia with severe combined immunodeficiency. Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (''FGFR3'') gene that results in its protein being Gain-of-function, overactive. Achondroplasia results in impaired endochondral bone growth (bone growth within car ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FGFR3
Fibroblast growth factor receptor 3 (FGFR-3) is a protein that in humans is encoded by the ''FGFR3'' gene. FGFR3 has also been designated as CD333 (cluster of differentiation 333). The gene, which is located on chromosome 4, location p16.3, is expressed in tissues such as the cartilage, brain, intestine, and kidneys. The FGFR3 gene produces various forms of the FGFR-3 protein; the location varies depending on the isoform of FGFR-3. Since the different forms are found within different tissues the protein is responsible for multiple growth factor interactions. Gain of function mutations in FGFR3 inhibits chondrocyte proliferation and underlies achondroplasia and hypochondroplasia. Function FGFR-3 is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein wou ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dwarfism
Dwarfism is a condition of people and animals marked by unusually small size or short stature. In humans, it is sometimes defined as an adult height of less than , regardless of sex; the average adult height among people with dwarfism is . ''Disproportionate dwarfism'' is characterized by either Rhizomelia, short limbs or a short torso. In cases of ''proportionate dwarfism'', both the limbs and torso are unusually small. Intelligence is usually normal, and most people with it have a nearly normal life expectancy. People with dwarfism can usually bear children, although there are additional Pregnancy risks, risks to the mother and child depending upon the underlying condition. The most common and recognizable form of dwarfism in humans (comprising 70% of cases) is achondroplasia, a genetic disorder whereby the limbs are diminutive. Growth hormone deficiency is responsible for most other cases. There are many other less common causes. Treatment of the condition depends on the u ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lysine
Lysine (symbol Lys or K) is an α-amino acid that is a precursor to many proteins. Lysine contains an α-amino group (which is in the protonated form when the lysine is dissolved in water at physiological pH), an α-carboxylic acid group (which is in the deprotonated form when the lysine is dissolved in water at physiological pH), and a side chain (which is partially protonated when the lysine is dissolved in water at physiological pH), and so it is classified as a basic, charged (in water at physiological pH), aliphatic amino acid. It is encoded by the codons AAA and AAG. Like almost all other amino acids, the α-carbon is chiral and lysine may refer to either enantiomer or a racemic mixture of both. For the purpose of this article, lysine will refer to the biologically active enantiomer L-lysine, where the α-carbon is in the ''S'' configuration. The human body cannot synthesize lysine. It is essential in humans and must therefore be obtained from the diet. In orga ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Congenital Disorders
A list is a set of discrete items of information collected and set forth in some format for utility, entertainment, or other purposes. A list may be memorialized in any number of ways, including existing only in the mind of the list-maker, but lists are frequently written down on paper, or maintained electronically. Lists are "most frequently a tool", and "one does not ''read'' but only ''uses'' a list: one looks up the relevant information in it, but usually does not need to deal with it as a whole".Lucie Doležalová,The Potential and Limitations of Studying Lists, in Lucie Doležalová, ed., ''The Charm of a List: From the Sumerians to Computerised Data Processing'' (2009). Purpose It has been observed that, with a few exceptions, "the scholarship on lists remains fragmented". David Wallechinsky, a co-author of ''The Book of Lists'', described the attraction of lists as being "because we live in an era of overstimulation, especially in terms of information, and lists help us ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Laminectomy
A laminectomy is a surgical procedure that removes a portion of a vertebra called the Lamina of the vertebral arch, lamina, which is the roof of the spinal canal. It is a major spine operation with residual scar tissue and may result in postlaminectomy syndrome. Depending on the problem, more conservative treatments (e.g., small endoscopic procedures, without bone removal) may be viable. Method The lamina is a posterior arch of the vertebral bone lying between the spinous process (which juts out in the middle) and the more lateral pedicles and the transverse processes of each vertebra. The pair of laminae, along with the Vertebra, spinous process, make up the posterior wall of the bony spinal canal. Although the literal meaning of laminectomy is 'excision of the lamina', a conventional laminectomy in neurosurgery and orthopedics involves excision of the supraspinous ligament and some or all of the spinous process. Removal of these structures with an open technique requires dis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spinal Stenosis
Spinal stenosis is an abnormal narrowing of the spinal canal or neural foramen that results in pressure on the spinal cord or nerve roots. Symptoms may include pain, numbness, or weakness in the arms or legs. Symptoms are typically gradual in onset and improve with leaning forward. Severe symptoms may include loss of bladder control, loss of bowel control, or sexual dysfunction. Causes may include osteoarthritis, rheumatoid arthritis, spinal tumors, trauma, Paget's disease of the bone, scoliosis, spondylolisthesis, and the genetic condition achondroplasia. It can be classified by the part of the spine affected into cervical, thoracic, and lumbar stenosis. Lumbar stenosis is the most common, followed by cervical stenosis. Diagnosis is generally based on symptoms and medical imaging. Treatment may involve medications, bracing, or surgery. Medications may include NSAIDs, acetaminophen, anticonvulsants ( gabapentinoids) or steroid injections. Stretching and strengthen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Counseling
Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine. The process integrates: * Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence * Education about inheritance, testing, management, prevention, resources * Counseling to promote informed choices, adaptation to the risk or condition and support in reaching out to relatives that are also at risk History The practice of advising people about inherited traits began around the turn of the 20th century, shortly after William Bateson suggested that the new medical and biological study of heredity be called "genetics". Heredity became intertwined with social reforms when the field of modern eugenics took form. Although ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Physical Therapy
Physical therapy (PT), also known as physiotherapy, is a healthcare profession, as well as the care provided by physical therapists who promote, maintain, or restore health through patient education, physical intervention, disease prevention, and health promotion. Physical therapist is the term used for such professionals in the United States, and physiotherapist is the term used in many other countries. The career has many specialties including musculoskeletal, orthopedics, cardiopulmonary, neurology, endocrinology, sports medicine, geriatrics, pediatrics, women's health, wound care and electromyography. PTs practice in many settings, both public and private. In addition to clinical practice, other aspects of physical therapy practice include research, education, consultation, and health administration. Physical therapy is provided as a primary care treatment or alongside, or in conjunction with, other medical services. In some jurisdictions, such as the United Kin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orthopedic Surgery
Orthopedic surgery or orthopedics ( alternative spelling orthopaedics) is the branch of surgery concerned with conditions involving the musculoskeletal system. Orthopedic surgeons use both surgical and nonsurgical means to treat musculoskeletal trauma, spine diseases, sports injuries, degenerative diseases, infections, tumors and congenital disorders. Etymology Nicholas Andry coined the word in French as ', derived from the Ancient Greek words ("correct", "straight") and ("child"), and published ''Orthopedie'' (translated as ''Orthopædia: Or the Art of Correcting and Preventing Deformities in Children'') in 1741. The word was assimilated into English as ''orthopædics''; the ligature ''æ'' was common in that era for ''ae'' in Greek- and Latin-based words. As the name implies, the discipline was initially developed with attention to children, but the correction of spinal and bone deformities in all stages of life eventually became the cornerstone of orthopedic pra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spinal Stenosis
Spinal stenosis is an abnormal narrowing of the spinal canal or neural foramen that results in pressure on the spinal cord or nerve roots. Symptoms may include pain, numbness, or weakness in the arms or legs. Symptoms are typically gradual in onset and improve with leaning forward. Severe symptoms may include loss of bladder control, loss of bowel control, or sexual dysfunction. Causes may include osteoarthritis, rheumatoid arthritis, spinal tumors, trauma, Paget's disease of the bone, scoliosis, spondylolisthesis, and the genetic condition achondroplasia. It can be classified by the part of the spine affected into cervical, thoracic, and lumbar stenosis. Lumbar stenosis is the most common, followed by cervical stenosis. Diagnosis is generally based on symptoms and medical imaging. Treatment may involve medications, bracing, or surgery. Medications may include NSAIDs, acetaminophen, anticonvulsants ( gabapentinoids) or steroid injections. Stretching and strengthen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
