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Achondroplasia In Children
Achondroplasia in children is the most common form of dwarfism; it accounts for about 70% of all cases of dwarfism. Achondroplasia falls into the category of “disproportionate dwarfism”. It is linked to a mutation in the fibroblast growth factor receptor-3. More than 250,000 people in the world are diagnosed with achondroplasia. Achondroplasia diagnosis occurs somewhere between one in every 10,000 and one in every 30,000 live births. Some symptoms of achondroplasia are short stature, a long and narrow trunk, shortening of the proximal segments of limbs, large head, mid-face hypoplasia, and joint hyperextension, among others. Achondroplasia is defined by central nervous system defects as well as the prior physical symptoms. Average height for an adult man or woman diagnosed with achondroplasia is about 120 centimeters (47.2 inches), although technically a maximum of 148 centimeters (58.2 inches) is also considered achondroplastic.Trotter, Tracy L., Judith G. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dwarfism
Dwarfism is a condition wherein an organism is exceptionally small, and mostly occurs in the animal kingdom. 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 , although some individuals with dwarfism are slightly taller. ''Disproportionate dwarfism'' is characterized by either 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 have a nearly normal life expectancy. People with dwarfism can usually bear children, though there are additional risks to the mother and child dependent upon the underlying condition. The most common and recognisable 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. Treatment depends on the underlying cause. Those w ... [...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. In those with the condition, the 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 enlarged head and prominent forehead. Complications can include sleep apnea or recurrent ear infections. Achondroplasia includes 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 overactive. Achondroplasia results in impaired endochondral bone growth (bone growth within cartilage). The disorder has an autosomal dominant mode of inheritance, meaning only one mutated copy of the gene is required for the condition to occur. About 80% of cases occur in children of parents of average stature and result f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoplasia
Hypoplasia (from Ancient Greek ὑπo- ''hypo-'' 'under' + πλάσις ''plasis'' 'formation'; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a tissue or organ. Dictionary of Cell and Molecular Biology (11 March 2008) Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells.Hypoplasia Stedman's Medical Dictionary. lww.com Hypoplasia is similar to |
Otitis Media
Otitis media is a group of inflammatory diseases of the middle ear. One of the two main types is acute otitis media (AOM), an infection of rapid onset that usually presents with ear pain. In young children this may result in pulling at the ear, increased crying, and poor sleep. Decreased eating and a fever may also be present. The other main type is otitis media with effusion (OME), typically not associated with symptoms, although occasionally a feeling of fullness is described; it is defined as the presence of non-infectious fluid in the middle ear which may persist for weeks or months often after an episode of acute otitis media. Chronic suppurative otitis media (CSOM) is middle ear inflammation that results in a perforated tympanic membrane with discharge from the ear for more than six weeks. It may be a complication of acute otitis media. Pain is rarely present. All three types of otitis media may be associated with hearing loss. If children with hearing loss due to OME do no ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gastroesophageal Reflux
Gastroesophageal reflux disease (GERD) or gastro-oesophageal reflux disease (GORD) is one of the upper gastrointestinal chronic diseases where stomach content persistently and regularly flows up into the esophagus, resulting in symptoms and/or complications. Symptoms include dental corrosion, dysphagia, heartburn, odynophagia, regurgitation, non-cardiac chest pain, extraesophageal symptoms such as chronic cough, hoarseness, reflux-induced laryngitis, or asthma. On the long term, and when not treated, complications such as esophagitis, esophageal stricture, and Barrett's esophagus may arise. Risk factors include obesity, pregnancy, smoking, hiatal hernia, and taking certain medications. Medications that may cause or worsen the disease include benzodiazepines, calcium channel blockers, tricyclic antidepressants, NSAIDs, and certain asthma medicines. Acid reflux is due to poor closure of the lower esophageal sphincter, which is at the junction between the stomach and the esoph ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vertebral Column
The vertebral column, also known as the backbone or spine, is part of the axial skeleton. The vertebral column is the defining characteristic of a vertebrate in which the notochord (a flexible rod of uniform composition) found in all chordata, chordates has been replaced by a segmented series of bone: vertebrae separated by intervertebral discs. Individual vertebrae are named according to their region and position, and can be used as anatomical landmarks in order to guide procedures such as Lumbar puncture, lumbar punctures. The vertebral column houses the spinal canal, a cavity that encloses and protects the spinal cord. There are about 50,000 species of animals that have a vertebral column. The human vertebral column is one of the most-studied examples. Many different diseases in humans can affect the spine, with spina bifida and scoliosis being recognisable examples. The general structure of human vertebrae is fairly typical of that found in mammals, reptiles, and birds. Th ... [...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, or steroid injections. Stretching and strengthening exercises may also be useful. Limiting ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cell Surface Receptor Deficiencies
Cell most often refers to: * Cell (biology), the functional basic unit of life Cell may also refer to: Locations * Monastic cell, a small room, hut, or cave in which a religious recluse lives, alternatively the small precursor of a monastery with only a few monks or nuns * Prison cell, a room used to hold people in prisons Groups of people * Cell, a group of people in a cell group, a form of Christian church organization * Cell, a unit of a clandestine cell system, a penetration-resistant form of a secret or outlawed organization * Cellular organizational structure, such as in business management Science, mathematics, and technology Computing and telecommunications * Cell (EDA), a term used in an electronic circuit design schematics * Cell (microprocessor), a microprocessor architecture developed by Sony, Toshiba, and IBM * Memory cell (computing), the basic unit of (volatile or non-volatile) computer memory * Cell, a unit in a database table or spreadsheet, formed by the in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Growth Disorders
Growth hormone therapy refers to the use of growth hormone (GH) as a prescription medication—it is one form of hormone therapy. Growth hormone is a peptide hormone secreted by the pituitary gland that stimulates growth and cell reproduction. In the past, growth hormone was extracted from human pituitary glands. Growth hormone is now produced by recombinant DNA technology and is prescribed for a variety of reasons. GH therapy has been a focus of social and ethical controversies for 50 years. This article describes the history of GH treatment and the current uses and risks arising from GH use. Other articles describe GH physiology, diseases of GH excess ( acromegaly and pituitary gigantism), deficiency, the recent phenomenon of HGH controversies, growth hormone in sports, and growth hormone for cows. Medical uses HGH deficiency in children Growth hormone deficiency is treated by replacing growth hormone. Lonapegsomatropin was approved for medical use in the United States in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
