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What are the symptoms of Spinal muscular atrophy type 3 ? | What are the signs and symptoms of Spinal muscular atrophy type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | Spinal muscular atrophy type 3 |
What is (are) Laryngomalacia ? | Laryngomalacia is an abnormality of the cartilage of the voice box (larynx) that is present at birth. The condition is characterized by "floppy" cartilage collapsing over the larynx when air is drawn into the lungs (inspiration), leading to airway obstruction. This obstruction causes a noise which may sound like nasal ... | Laryngomalacia |
What are the symptoms of Laryngomalacia ? | What are the signs and symptoms of Laryngomalacia? The Human Phenotype Ontology provides the following list of signs and symptoms for Laryngomalacia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... | Laryngomalacia |
Is Laryngomalacia inherited ? | Is laryngomalacia inherited? Laryngomalacia may be inherited in some instances. Only a few cases of familial laryngomalacia (occurring in more than one family member) have been described in the literature. In some of these cases, autosomal dominant inheritance has been suggested. Laryngomalacia has also been reported a... | Laryngomalacia |
What are the symptoms of Pituitary hormone deficiency, combined 2 ? | What are the signs and symptoms of Pituitary hormone deficiency, combined 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pituitary hormone deficiency, combined 2. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Pituitary hormone deficiency, combined 2 |
What are the symptoms of Multiple epiphyseal dysplasia 1 ? | What are the signs and symptoms of Multiple epiphyseal dysplasia 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | Multiple epiphyseal dysplasia 1 |
What are the symptoms of 5q- syndrome ? | What are the signs and symptoms of 5q- syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 5q- syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look ... | 5q- syndrome |
What is (are) Malakoplakia ? | Malakoplakia is a rare chronic inflammatory disease. It commonly involves the urinary tract, but may also involve the prostate, ureter, pelvis, bones, lungs, testes, gastrointestinal tract, skin, and kidney. Malakoplakia of the kidney is often associated with chronic kidney infection and obstruction. E. coli is the m... | Malakoplakia |
What are the symptoms of Mesomelic dwarfism cleft palate camptodactyly ? | What are the signs and symptoms of Mesomelic dwarfism cleft palate camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dwarfism cleft palate camptodactyly. If the information is available, the table below includes how often the symptom is seen in people with this ... | Mesomelic dwarfism cleft palate camptodactyly |
What is (are) Prinzmetal's variant angina ? | Prinzmetal's variant angina is characterized by recurrent episodes of chest pain that occur while an individual is at rest. This condition is a form of unstable angina because the episodes do not occur in a predictable pattern. Prinzmetal's variant angina may occur spontaneously, or it may be caused by exposure to cold... | Prinzmetal's variant angina |
What are the symptoms of Prinzmetal's variant angina ? | What are the symptoms of Prinzmetal's variant angina? The main symptom of Prinzmetal's variant angina is chest pain (angina) with the following characteristics: Occurs under the chest bone Described as squeezing, constricting, tightness, pressure, crushing Is usually severe and may radiate to the neck, jaw, shoulder, o... | Prinzmetal's variant angina |
What causes Prinzmetal's variant angina ? | What causes Prinzmetal's variant angina? Prinzmetal's variant angina is caused by coronary artery spasms. A coronary artery spasm is a temporary, abrupt, and focal (restricted to one location) contraction of the muscles in the wall of an artery in the heart. This spasm constricts the artery, slowing or stoping blood fl... | Prinzmetal's variant angina |
What are the treatments for Prinzmetal's variant angina ? | What is the treatment for Prinzmetal's variant angina? The goal of treatment is to control chest pain and to prevent heart attack. Nitroglycerin or other nitrate medications may be prescribed to relieve chest pain. Calcium-channel blockers may be chronically needed. These medications widen the blood vessels to improve ... | Prinzmetal's variant angina |
What is (are) Arts syndrome ? | Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Arts syndrome is caused by mutations in the PRPS1 gene which is located on the X chromosome. It is inhe... | Arts syndrome |
What are the symptoms of Arts syndrome ? | What are the signs and symptoms of Arts syndrome? Boys with Arts syndrome have sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and... | Arts syndrome |
What causes Arts syndrome ? | What causes Arts syndrome? Arts syndrome is caused by mutations in the PRPS1 gene. This gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, the building blocks of DNA, RNA, and molecules suc... | Arts syndrome |
Is Arts syndrome inherited ? | How is Arts syndrome inherited? Arts syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only 1 X chromosome), a mutation in the only copy of the gene in each cell causes the disorder.... | Arts syndrome |
What are the symptoms of X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia ? | What are the signs and symptoms of X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia. If the information is available, the table b... | X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia |
What are the symptoms of Pontocerebellar hypoplasia type 6 ? | What are the signs and symptoms of Pontocerebellar hypoplasia type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Pontocerebellar hypoplasia type 6 |
What is (are) Usher syndrome, type 2C ? | Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. A... | Usher syndrome, type 2C |
What are the symptoms of Usher syndrome, type 2C ? | What are the signs and symptoms of Usher syndrome, type 2C? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 2C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | Usher syndrome, type 2C |
Is Usher syndrome, type 2C inherited ? | How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a ca... | Usher syndrome, type 2C |
What is (are) Iridocorneal endothelial syndrome ? | Iridocorneal endothelial (ICE) syndrome describes a group of eye diseases that are characterized by three main features: Visible changes in the iris (the colored part of the eye that regulates the amount of light entering the eye) Swelling of the cornea, and The development of glaucoma (a disease that can cause seve... | Iridocorneal endothelial syndrome |
What are the symptoms of Iridocorneal endothelial syndrome ? | What are the signs and symptoms of iridocorneal endothelial (ICE) syndrome? The most common feature of ICE syndrome is the movement of endothelial cells off the cornea onto the iris. This loss of cells from the cornea often leads to swelling of the cornea, distortion of the iris, and variable degrees of distortion of t... | Iridocorneal endothelial syndrome |
What causes Iridocorneal endothelial syndrome ? | What causes iridocorneal endothelial (ICE) syndrome? The cause of this disease is unknown. However, it has been theorized that a viral infection, such as Herpes simplex virus (HSV) or Epstein-Barr virus (EBV) may be the trigger that causes the cornea to swell. | Iridocorneal endothelial syndrome |
What are the treatments for Iridocorneal endothelial syndrome ? | How might iridocorneal endothelial (ICE) syndrome be treated? It is not possible to halt the progression of ICE syndrome. Treatment is usually focused on managing the glaucoma associated with the disease, either through medication or possible surgery, to help reduce pressure in the eye. Medication and corneal transplan... | Iridocorneal endothelial syndrome |
What is (are) Duane syndrome type 2 ? | Duane syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Usually only one eye is ... | Duane syndrome type 2 |
What are the symptoms of Duane syndrome type 2 ? | What are the signs and symptoms of Duane syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Duane syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | Duane syndrome type 2 |
What is (are) Abetalipoproteinemia ? | Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. Signs and symptoms appear in the first few months of life and can include failure to thrive; diarrhea; acanthocytosis; and stool abnormalities. Other features develop later in childhood... | Abetalipoproteinemia |
What are the symptoms of Abetalipoproteinemia ? | What are the signs and symptoms of Abetalipoproteinemia? The signs and symptoms of abetalipoproteinemia usually appear in the first few months of life. They can include: failure to thrive in infancy digestive symptoms such as diarrhea and steatorrhea (foul-smelling stools) abnormal, star-shaped red blood cells (acantho... | Abetalipoproteinemia |
What causes Abetalipoproteinemia ? | What causes abetalipoproteinemia? Abetalipoproteinemia is caused by changes (mutations) in the MTTP gene. The MTTP gene gives the body instructions to make a protein needed for creating beta-lipoproteins. These lipoproteins are necessary for the body to absorb fats, cholesterol, and fat-soluble vitamins (vitamins A, D,... | Abetalipoproteinemia |
Is Abetalipoproteinemia inherited ? | How is abetalipoproteinemia inherited? Abetalipoproteinemia is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a car... | Abetalipoproteinemia |
How to diagnose Abetalipoproteinemia ? | Is genetic testing available for abetalipoproteinemia? Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for abetalipoproteinemia. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test ... | Abetalipoproteinemia |
What are the treatments for Abetalipoproteinemia ? | How might abetalipoproteinemia be treated? A nutritionist or other qualified medical professional should be consulted for specific dietary instruction in people with abetalipoproteinemia. Treatment involves very large doses of vitamin E, as well as large doses of vitamin supplements containing other fat-soluble vitamin... | Abetalipoproteinemia |
What are the symptoms of Short limb dwarf lethal Colavita Kozlowski type ? | What are the signs and symptoms of Short limb dwarf lethal Colavita Kozlowski type? The Human Phenotype Ontology provides the following list of signs and symptoms for Short limb dwarf lethal Colavita Kozlowski type. If the information is available, the table below includes how often the symptom is seen in people with t... | Short limb dwarf lethal Colavita Kozlowski type |
What is (are) X-linked hypophosphatemia ? | X-linked Hypophosphatemia (XLH) is an inherited metabolic disorder characterized by low phosphate levels in the blood that can lead to softening and weakening of bones (rickets) as a result of improper processing of phosphate in the kidneys leading to phosphate wasting. XLH is usually diagnosed in childhood, and clinic... | X-linked hypophosphatemia |
What are the symptoms of X-linked hypophosphatemia ? | What are the signs and symptoms of X-linked hypophosphatemia? Symptoms of X-linked hypophosphatemia (XLH) usually begin in early childhood, though severity varies case by case. Early signs include skeletal abnormalities such as noticeably bowed or bent legs, short stature, and irregular growth of the skull. Overtime, s... | X-linked hypophosphatemia |
What causes X-linked hypophosphatemia ? | What causes X-linked hypophosphatemia? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene on the X chromosome. Nearly 300 PHEX mutations have been associated with XLH. Mutations in this gene lead to an increase in the bodily concentration of fibroblast growth factor 23 (FGF23), a growth hormone th... | X-linked hypophosphatemia |
Is X-linked hypophosphatemia inherited ? | How is X-linked hypophosphatemia inherited? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene, and is inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the... | X-linked hypophosphatemia |
How to diagnose X-linked hypophosphatemia ? | How is X-linked hypophosphatemia diagnosed? X-linked hypophosphatemia (XLH) is diagnosed based on clinical observations, biochemical testing, imaging, and family history. Observable signs include low growth rate and noticeable bowing of the legs. X-rays provide more information that can rule out other potential causes ... | X-linked hypophosphatemia |
What are the treatments for X-linked hypophosphatemia ? | How might X-linked hypophosphatemia be treated? X-linked hypophosphatemia is different from other types of rickets because it cannot be treated by increasing vitamin D alone. Phosphate supplementation is generally required and is typically combined with a high dose of calcitriol, the activated form of vitamin D. Calcit... | X-linked hypophosphatemia |
What is (are) 22q11.2 deletion syndrome ? | 22q11.2 deletion syndrome is a spectrum disorder that includes conditions formerly called DiGeorge syndrome; velocardiofacial syndrome; conotruncal anomaly face syndrome; cases of Opitz G/BBB syndrome; and Cayler cardiofacial syndrome. The features and severity can vary greatly among affected people. Signs and symptoms... | 22q11.2 deletion syndrome |
What are the symptoms of 22q11.2 deletion syndrome ? | What are the signs and symptoms of 22q11.2 deletion syndrome? Signs and symptoms of 22q11.2 deletion syndrome vary greatly from person to person, even among affected people in the same family. Symptoms may include: Heart defects (74% of individuals) Palatal abnormalities (69% of individuals) Characteristic facial featu... | 22q11.2 deletion syndrome |
What causes 22q11.2 deletion syndrome ? | What causes 22q11.2 deletion syndrome? 22q11.2 deletion syndrome is caused by a missing piece (deletion) of part of chromosome 22 in each cell. The deletion occurs near the middle of the chromosome at a location designated q11.2. Most people with 22q11.2 deletion syndrome are missing a piece of the chromosome that cont... | 22q11.2 deletion syndrome |
Is 22q11.2 deletion syndrome inherited ? | Is 22q11.2 deletion syndrome inherited? Most cases of 22q11.2 deletion syndrome are not inherited from a parent and are caused by a random error during the formation of egg or sperm cells, or during early fetal development. In about 10% of cases, the deletion is inherited from a parent with the deletion. All people wit... | 22q11.2 deletion syndrome |
What is (are) Adenoameloblastoma ? | Adenoameloblastoma is a lesion that is often found in the upper jaw. Some consider it a non-cancerous tumor, others a hamartoma (tumor-like growth) or cyst. Often, an early sign of the lesion is painless swelling. These tumors are rarely found outside of the jaw. | Adenoameloblastoma |
What causes Adenoameloblastoma ? | What causes adenoameloblastoma? Currently the cause of adenoameloblastoma is not well understood. It may be associated with an interruption in tooth development. These legions tend to occur more commonly in young people (around 20 year-old), and most often in young women. Adenoameloblastomas in the front upper jaw are ... | Adenoameloblastoma |
What are the treatments for Adenoameloblastoma ? | How might adenoameloblastoma be treated? Treatment may require the removal of the legion as well as the surrounding tissues. Once the treatment is complete, recurrence of the legion is very rare. | Adenoameloblastoma |
What is (are) Idiopathic juxtafoveal retinal telangiectasia ? | Idiopathic juxtafoveal retinal telangiectasia (IJT) refers to a group of eye conditions characterized by dilated or twisting blood vessels (telangiectasia) and defective capillaries (tiny blood vessels) near the fovea in the retina. The fovea has the biggest number of special retinal nerve cells, called cones, which en... | Idiopathic juxtafoveal retinal telangiectasia |
What are the symptoms of Idiopathic juxtafoveal retinal telangiectasia ? | What are the signs and symptoms of idiopathic juxtafoveal retinal telangiectasia? Signs and symptoms of idiopathic juxtafoveal retinal telangiectasia may include slow loss of vision, distorted vision, trouble reading, and scotomata (a spot in the visual field in which vision is absent or deficient). | Idiopathic juxtafoveal retinal telangiectasia |
What causes Idiopathic juxtafoveal retinal telangiectasia ? | What causes idiopathic juxtafoveal retinal telangiectasia? The exact, underlying cause of idiopathic juxtafoveal retinal telangiectasia (IJT) is not known. IJT has been reported in some siblings (including twins) and other family members of affected people. This suggests there may be a genetic component to IJT; however... | Idiopathic juxtafoveal retinal telangiectasia |
What are the treatments for Idiopathic juxtafoveal retinal telangiectasia ? | How might idiopathic juxtafoveal retinal telangiectasia (IJT) be treated? Laser photocoagulation of areas of leakage may be helpful in treating vision loss in people with certain subtypes of IJT, such as Group 1A. A laser is a powerful beam of light which can be focused on the retina. Small "bursts" of the laser can be... | Idiopathic juxtafoveal retinal telangiectasia |
What are the symptoms of Glomerulonephritis with sparse hair and telangiectases ? | What are the signs and symptoms of Glomerulonephritis with sparse hair and telangiectases? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulonephritis with sparse hair and telangiectases. If the information is available, the table below includes how often the symptom is seen in... | Glomerulonephritis with sparse hair and telangiectases |
What are the symptoms of Frontometaphyseal dysplasia ? | What are the signs and symptoms of Frontometaphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontometaphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | Frontometaphyseal dysplasia |
What is (are) IBIDS syndrome ? | Tay syndrome is a rare genetic disorder characterized by congenital ichthyosis (dry, fish-like scaly skin present at birth) and abnormal brittle hair (trichothiodystrophy). | IBIDS syndrome |
What are the symptoms of IBIDS syndrome ? | What are the signs and symptoms of IBIDS syndrome? The most common symptoms of Tay syndrome are brittle hair (trichothiodystrophy); dry, thickened, scaling skin (ichthyosis); photosensitivity (abnormal light sensitivity); abnormal nails; and multiple developmental defects. Other features include: low birth weight, shor... | IBIDS syndrome |
Is IBIDS syndrome inherited ? | What causes Tay syndrome? How is it inherited? Although Tay syndrome is known to be genetic, the gene(s) associated with the condition is(are) unknown. Tay syndrome is inherited in an autosomal recessive pattern , which means two copies of the gene in each cell are altered (mutated). If both parents carry the gene for ... | IBIDS syndrome |
What are the treatments for IBIDS syndrome ? | What treatment is available for Tay syndrome? Treatments for Tay syndrome are symptomatic. There is no cure for ichthyosis, only treatments to help manage symptoms. The main treatment for ichthyosis is to hydrate (moisturize) the skin, hold in the moisture, and keep scale thickness to a minimum. | IBIDS syndrome |
What are the symptoms of Selig Benacerraf Greene syndrome ? | What are the signs and symptoms of Selig Benacerraf Greene syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Selig Benacerraf Greene syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Selig Benacerraf Greene syndrome |
What are the symptoms of Benign paroxysmal positional vertigo ? | What are the signs and symptoms of Benign paroxysmal positional vertigo? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign paroxysmal positional vertigo. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Benign paroxysmal positional vertigo |
What is (are) Autoimmune autonomic ganglionopathy ? | Autoimmune autonomic ganglionopathy (AAG) is rare autoimmune disorder in which the body's immune system mistakenly attacks and damages certain parts of the autonomic nervous system. Signs and symptoms of the condition vary but may include severe orthostatic hypotension (low blood pressure upon standing); fainting; cons... | Autoimmune autonomic ganglionopathy |
What are the symptoms of Autoimmune autonomic ganglionopathy ? | What are the signs and symptoms of autoimmune autonomic ganglionopathy? The symptoms of autoimmune autonomic ganglionopathy can include: Severe orthostatic hypotension (low blood pressure upon standing) that persists for weeks to years Fainting Constipation and gastrointestinal dysmotility (a condition in which the mus... | Autoimmune autonomic ganglionopathy |
What causes Autoimmune autonomic ganglionopathy ? | What causes autoimmune autonomic ganglionopathy? The cause of autoimmune autonomic ganglionopathy is not fully understood. An autoimmune component is presumed, as the body's own immune system damages a receptor in the autonomic ganglia (part of the peripheral autonomic nerve fiber). In one to two-thirds of affected ind... | Autoimmune autonomic ganglionopathy |
What are the treatments for Autoimmune autonomic ganglionopathy ? | How might autoimmune autonomic ganglionopathy be treated? Since autoimmune autonomic ganglionopathy is so rare, no standard treatments have been established. Experts familiar with this condition often use plasma exchange or total plasmapheresis, intravenous immunoglobulin (IVIG), IV corticosteroids, or immunosuppressiv... | Autoimmune autonomic ganglionopathy |
What is (are) Stuve-Wiedemann syndrome ? | Stuve-Wiedemann syndrome (STWS) is a congenital bone dysplasia characterized by small stature, congenital bowing of the long bones and other skeletal anomalies. Patients present with serious complications including respiratory and feeding distress and recurrent episodes of unexplained hyperthermia (elevated body temper... | Stuve-Wiedemann syndrome |
What are the symptoms of Stuve-Wiedemann syndrome ? | What are the signs and symptoms of Stuve-Wiedemann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stuve-Wiedemann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... | Stuve-Wiedemann syndrome |
What is (are) Lipodermatosclerosis ? | Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is u... | Lipodermatosclerosis |
What are the symptoms of Lipodermatosclerosis ? | What are the signs and symptoms of lipodermatosclerosis? Lipodermatosclerosis refers to changes in the skin of the lower legs. One or both legs may be involved. Signs and symptoms vary but may include: Pain Hardening and/or thickening of the skin Varicose veins Changes in skin color (redness) Small white scarred areas ... | Lipodermatosclerosis |
What causes Lipodermatosclerosis ? | What causes lipodermatosclerosis? The exact cause of lipodermatosclerosis is unknown; however, it may be related to certain vein abnormalities and/or obesity. Lipodermatosclerosis often occurs in people with venous insufficiency. Approximately two thirds of affected people are obese. | Lipodermatosclerosis |
How to diagnose Lipodermatosclerosis ? | How is lipodermatosclerosis diagnosed? Lipodermatosclerosis is usually diagnosed based on the presence of characteristic signs and symptoms. A skin biopsy and/or blood tests are usually not required to confirm a diagnosis but may be performed in rare cases. Ultrasound scans and/or magnetic resonance imaging (MRI) may b... | Lipodermatosclerosis |
What are the treatments for Lipodermatosclerosis ? | How might lipodermatosclerosis be treated? Lipodermatosclerosis is primarily treated with compression therapy to improve venous insufficiency. Other strategies for managing venous insufficiency include leg elevation; not sitting or standing in one place for long periods of time; regular exercise; and weight loss if ove... | Lipodermatosclerosis |
What are the symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? | What are the signs and symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. If the information is available, t... | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia |
What is (are) Robinow syndrome ? | Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity. ... | Robinow syndrome |
What are the symptoms of Robinow syndrome ? | What are the signs and symptoms of Robinow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Robinow syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary ... | Robinow syndrome |
Is Robinow syndrome inherited ? | How is Robinow syndrome inherited? Robinow syndrome may be inherited in an autosomal recessive or autosomal dominant manner. Autosomal recessive (AR) inheritance means both copies of the responsible gene in each cell must have a mutation for a person to be affected. The parents of a person with AR Robinow syndrome usua... | Robinow syndrome |
How to diagnose Robinow syndrome ? | Is genetic testing available for Robinow syndrome? Genetic testing for autosomal recessive Robinow syndrome and autosomal dominant Robinow syndrome is available. However, not all people diagnosed with either type of Robinow syndrome have mutations in the genes known to cause these conditions. In these cases, the cause ... | Robinow syndrome |
What is (are) Malaria ? | Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are ... | Malaria |
What are the symptoms of Malaria ? | What are the signs and symptoms of Malaria? The Human Phenotype Ontology provides the following list of signs and symptoms for Malaria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the def... | Malaria |
What is (are) HTLV-1 associated myelopathy/tropical spastic paraparesis ? | HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic, progressive disease of the nervous system that affects less than 2 percent of people with HTLV-1 infection. Signs and symptoms vary but may include progressive weakness, stiff muscles, muscle spasms, backache, a 'weak' bladder, and consti... | HTLV-1 associated myelopathy/tropical spastic paraparesis |
What are the symptoms of HTLV-1 associated myelopathy/tropical spastic paraparesis ? | What are the signs and symptoms of HTLV-1 associated myelopathy/tropical spastic paraparesis? Signs and symptoms of HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) vary but may include: Progressive weakness Stiff muscles Muscle spasms Backache A 'weak' bladder Constipation Rarely HAM/TSP may cau... | HTLV-1 associated myelopathy/tropical spastic paraparesis |
What are the treatments for HTLV-1 associated myelopathy/tropical spastic paraparesis ? | How might HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) be treated? There is no established treatment program for HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP). Corticosteroids may relieve some symptoms, but arent likely to change the course of the disorder. Clinical studie... | HTLV-1 associated myelopathy/tropical spastic paraparesis |
What is (are) SAPHO syndrome ? | SAPHO syndrome involves any combination of: Synovitis (inflammation of the joints), Acne, Pustulosis (thick yellow blisters containing pus) often on the palms and soles, Hyperostosis (increase in bone substance) and Osteitis (inflammation of the bones). The cause of SAPHO syndrome is unknown and treatment is focused on... | SAPHO syndrome |
What are the symptoms of SAPHO syndrome ? | What are the signs and symptoms of SAPHO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SAPHO syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... | SAPHO syndrome |
What are the treatments for SAPHO syndrome ? | How might SAPHO syndrome be treated? There is no specific treatment plan for SAPHO syndrome. It can be a chronic condition but sometimes eventually heals on its own. Joint pain may be managed with nonsteroidal anti-inflammatory drugs and prescription vitamin A is used to treat the acne. Other drugs that may be used inc... | SAPHO syndrome |
What are the symptoms of Leber congenital amaurosis 2 ? | What are the signs and symptoms of Leber congenital amaurosis 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | Leber congenital amaurosis 2 |
What are the symptoms of Amyloidosis familial visceral ? | What are the signs and symptoms of Amyloidosis familial visceral? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis familial visceral. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | Amyloidosis familial visceral |
What are the symptoms of Corneodermatoosseous syndrome ? | What are the signs and symptoms of Corneodermatoosseous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneodermatoosseous syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | Corneodermatoosseous syndrome |
What are the symptoms of Osteodysplasia familial Anderson type ? | What are the signs and symptoms of Osteodysplasia familial Anderson type? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteodysplasia familial Anderson type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Osteodysplasia familial Anderson type |
What is (are) Niemann-Pick disease type A ? | Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Niemann-... | Niemann-Pick disease type A |
What are the symptoms of Niemann-Pick disease type A ? | What are the signs and symptoms of Niemann-Pick disease type A? The Human Phenotype Ontology provides the following list of signs and symptoms for Niemann-Pick disease type A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | Niemann-Pick disease type A |
What are the treatments for Niemann-Pick disease type A ? | How might Niemann-Pick disease type A be treated? There is no specific treatment for this disease. Supportive care from the following specialists may be helpful for managing the symptoms: A pulmonologist for respiratory problems A cardiologist for heart problems Liver and spleen specialists Nutritionists Physical ther... | Niemann-Pick disease type A |
What is (are) Wolffian tumor ? | Wolffian tumors are rare tumors located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. Wolffian ducts are structures in a developing embryo that get incorporated into the reproductive system in males and degenerate in females. Wolffian tumors are thought to have a low potenti... | Wolffian tumor |
What is (are) Chromosome 6q deletion ? | Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occu... | Chromosome 6q deletion |
What is (are) Emery-Dreifuss muscular dystrophy, dominant type ? | null | Emery-Dreifuss muscular dystrophy, dominant type |
What are the symptoms of Brachydactyly type A4 ? | What are the signs and symptoms of Brachydactyly type A4? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | Brachydactyly type A4 |
What is (are) Freiberg's disease ? | Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pa... | Freiberg's disease |
What are the symptoms of Freiberg's disease ? | What are the signs and symptoms of Freiberg's disease? Common signs and symptoms of Freiberg's disease include pain and stiffness in the front of the foot, which often leads to a limp. People with this condition may also experience swelling, limited range of motion, and tenderness of the affected foot. Some people desc... | Freiberg's disease |
What causes Freiberg's disease ? | What causes Freiberg's disease? The exact cause of Freiberg's disease is poorly understood. Some scientists believe that it is a multifactorial condition which is likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. However, most current theories are centered on ... | Freiberg's disease |
How to diagnose Freiberg's disease ? | How is Freiberg's disease diagnosed? A diagnosis of Freiberg's disease is often suspected based on the presence of characteristic signs and symptoms. An X-ray, magnetic resonance imaging (MRI), and/or bone scan can then be ordered to confirm the diagnosis. Other testing such as laboratory studies may also be recommende... | Freiberg's disease |
What are the treatments for Freiberg's disease ? | How might Freiberg's disease be treated? The treatment of Freiberg's disease depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient. The primary goal of therapy is to rest the joint and reduce pain and swelling. A more conservative treatment approach is ... | Freiberg's disease |
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