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What are the symptoms of Larsen syndrome ? | What are the signs and symptoms of Larsen syndrome? The signs and symptoms of Larsen syndrome vary from person to person, but may include the following: Joint dislocation (especially of the hips, knees, and elbows) Hypermobile joints Flat, rectangular face Depressed nasal bridge Prominent forehead Widely spaced eyes (h... | Larsen syndrome |
Is Larsen syndrome inherited ? | How is Larson syndrome inherited? Larson syndrome is inherited in an autosomal dominant manner. A condition is autosomal dominant when having one copy of the changed (mutated) gene in each cell is enough to cause signs or symptoms of the condition. In some cases, an affected person inherits the mutation from one affect... | Larsen syndrome |
What is (are) Progressive multifocal leukoencephalopathy ? | Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but it rarely causes symptoms unless the immune system beco... | Progressive multifocal leukoencephalopathy |
What are the treatments for Progressive multifocal leukoencephalopathy ? | How might progressive multifocal leukoencephalopathy (PML) be treated? Currently, the best available therapy is reversal of the immune-deficient state. This can sometimes be accomplished by alteration of chemotherapy or immunosuppression. In the case of HIV-associated PML, immediately beginning anti-retroviral therapy ... | Progressive multifocal leukoencephalopathy |
What is (are) Noonan syndrome ? | Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndr... | Noonan syndrome |
What are the symptoms of Noonan syndrome ? | What are the signs and symptoms of Noonan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan 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... | Noonan syndrome |
Is Noonan syndrome inherited ? | How is Noonan syndrome inherited? Noonan syndrome is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of the responsible gene in each cell is enough to cause the condition. Each child of a person with Noonan syndrome has a 50% (1 in 2) chance to inherit the condition. In some... | Noonan syndrome |
What are the treatments for Noonan syndrome ? | How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabi... | Noonan syndrome |
What is (are) Prolactinoma, familial ? | A prolactinoma is a tumor of the pituitary gland, which controls production of many hormones. A prolactinoma causes increased levels of the hormone prolactin. The symptoms of prolactinoma may include unusual milk production (galactorrhea) or no menstrual cycles (amenorrhea) in women or decreased sex drive in men. Mo... | Prolactinoma, familial |
What is (are) Hypocomplementemic urticarial vasculitis syndrome ? | Hypocomplementemic urticarial vasculitis (HUV) is a rare form of cutaneous small-vessel vasculitis characterized by recurrent episodes of urticaria and painful, tender, burning or itchy skin lesions, often associated with extracutaneous involvement but usually with no significant peripheral nerve damage. Patients with ... | Hypocomplementemic urticarial vasculitis syndrome |
How to diagnose Hypocomplementemic urticarial vasculitis syndrome ? | How is hypocomplementemic urticarial vasculitis (HUV) diagnosed? What kind of tests are required? A diagnosis of hypocomplementemic urticarial vasculitis (HUV) syndrome is supported by findings from varied tests, such as skin biopsy, blood tests, physical and eye examinations, and urinalysis and kidney imaging studies ... | Hypocomplementemic urticarial vasculitis syndrome |
What are the symptoms of Boomerang dysplasia ? | What are the signs and symptoms of Boomerang dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Boomerang 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 MedlinePlus Medical Dicti... | Boomerang dysplasia |
What is (are) Mixed connective tissue disease ? | Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect ... | Mixed connective tissue disease |
What are the symptoms of Mixed connective tissue disease ? | What are the signs and symptoms of Mixed connective tissue disease? People with mixed connective tissue disease (MCTD) have symptoms that overlap with several connective tissue disorders, including systemic lupus erythematosus, polymyositis, scleroderma, and rheumatoid arthritis. A condition called Raynaud's phenomenon... | Mixed connective tissue disease |
What causes Mixed connective tissue disease ? | What causes mixed connective tissue disease? The exact underlying cause of mixed connective tissue disease (MCTD) is currently unknown. It is an autoimmune disorder, which means the immune system mistakes normal, healthy cells for those that that body should "fight off." There are ongoing studies exploring how immune s... | Mixed connective tissue disease |
Is Mixed connective tissue disease inherited ? | Is mixed connective tissue disease inherited? The role of genetics in the onset of mixed connective tissue disease (MCTD) is still unclear. Some people with MCTD have family members who are also affected by the condition. This suggests that in some cases, an inherited predisposition may contribute to the development of... | Mixed connective tissue disease |
How to diagnose Mixed connective tissue disease ? | How is mixed connective tissue disease diagnosed? Mixed connective tissue disease (MCTD) is often suspected after a physical examination reveals signs and symptoms associated with the condition. The diagnosis is supported by a blood test that shows high levels of antibodies associated with MCTD. | Mixed connective tissue disease |
What are the treatments for Mixed connective tissue disease ? | How might mixed connective tissue disease be treated? There is currently no cure for mixed connective tissue disease (MCTD). However, treatments can help manage symptoms of the condition. For example, medications such as over-the-counter or prescription nonsteroidal anti-inflammatory drugs may help with inflammation an... | Mixed connective tissue disease |
What is (are) Chromosome 5q deletion ? | Chromosome 5q 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 5. 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 5q deletion |
What are the symptoms of Faciocardiorenal syndrome ? | What are the signs and symptoms of Faciocardiorenal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Faciocardiorenal 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 M... | Faciocardiorenal syndrome |
What is (are) Mal de debarquement ? | Mal de debarquement syndrome is a balance disorder that most commonly develops following an ocean cruise or other type of water travel and less commonly following air travel, train travel, or other motion experiences. The symptoms typically reported include: persistent sensation of motion such as rocking, swaying, and/... | Mal de debarquement |
What are the treatments for Mal de debarquement ? | How might mal de debarquement syndrome be treated? Treatment options for mal de debarquement syndrome (MdDS) are limited. Most drugs that work for other forms of dizziness do not work for MdDS. On some cases, medications classified as vestibular suppressants, such as anti-depressants and anti-seizure medications, may b... | Mal de debarquement |
What is (are) Loeys-Dietz syndrome ? | Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). Other findings include craniosynostosis, ex... | Loeys-Dietz syndrome |
What are the symptoms of Loeys-Dietz syndrome ? | What are the signs and symptoms of Loeys-Dietz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz 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 Dic... | Loeys-Dietz syndrome |
What is (are) Cockayne syndrome ? | Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, toot... | Cockayne syndrome |
What are the symptoms of Cockayne syndrome ? | What are the signs and symptoms of Cockayne syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne 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 Dictionar... | Cockayne syndrome |
What is (are) Trisomy 18 ? | Trisomy 18 is a chromosome disorder characterized by having 3 copies of chromosome 18 instead of the usual 2 copies. Signs and symptoms include severe intellectual disability; low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; congenital heart defects; and... | Trisomy 18 |
What are the symptoms of Trisomy 18 ? | What are the signs and symptoms of Trisomy 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Trisomy 18. 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 t... | Trisomy 18 |
What causes Trisomy 18 ? | What causes Trisomy 18? In most cases, trisomy 18 is caused by having 3 copies of chromosome 18 in each cell in the body, instead of the usual 2 copies. The extra genetic material from the 3rd copy of the chromosome disrupts development, causing the characteristic signs and symptoms of the condition. About 5% of people... | Trisomy 18 |
Is Trisomy 18 inherited ? | Is trisomy 18 inherited? Most cases of trisomy 18 are not inherited and occur randomly due to errors in the formation of eggs or sperm. If an egg or sperm gains an extra copy of chromosome 18 during cell division and contributes to a pregnancy, the embryo will have an extra chromosome 18 (trisomy) in each cell of the b... | Trisomy 18 |
What is (are) Idiopathic acute eosinophilic pneumonia ? | Idiopathic acute eosinophilic pneumonia (IAEP) is characterized by the rapid accumulation of eosinophils in the lungs. Eosinophils are a type of white blood cell and are part of the immune system. IAEP can occur at any age but most commonly affects otherwise healthy individuals between 20 and 40 years of age. Signs and... | Idiopathic acute eosinophilic pneumonia |
What are the symptoms of Idiopathic acute eosinophilic pneumonia ? | What are the signs and symptoms of Idiopathic acute eosinophilic pneumonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic acute eosinophilic pneumonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Idiopathic acute eosinophilic pneumonia |
What is (are) Opsismodysplasia ? | Opsismodysplasia is a rare skeletal dysplasia characterized by congenital short stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), and ch... | Opsismodysplasia |
What are the symptoms of Opsismodysplasia ? | What are the signs and symptoms of Opsismodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Opsismodysplasia. 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 ... | Opsismodysplasia |
What are the symptoms of Hoyeraal Hreidarsson syndrome ? | What are the signs and symptoms of Hoyeraal Hreidarsson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hoyeraal Hreidarsson 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... | Hoyeraal Hreidarsson syndrome |
What is (are) Cherubism ? | Cherubism is a rare disorder characterized by abnormal bone tissue in the lower part of the face. The enlarged bone is replaced with painless, cyst-like growths that give the cheeks a swollen, rounded appearance and frequently interfere with normal tooth development. The condition may be mild or severe. People with the... | Cherubism |
What are the symptoms of Cherubism ? | What are the signs and symptoms of Cherubism? Cherubism is characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the che... | Cherubism |
What causes Cherubism ? | How does one get cherubism? What causes cherubism? Genetic changes (mutations) in the SH3BP2 gene cause cherubism. About 80 percent of people with cherubism have a mutation in the SH3BP2 gene. In most of the remaining cases, the genetic cause of the condition is unknown. | Cherubism |
Is Cherubism inherited ? | If I find that I am not a carrier for cherubism can I still have children with the disease? Yes. Again, only 80 percent of people with cherubism have an identifiable mutation in the SH3BP2 gene. In the remaining cases, the cause is genetic, but unknown. Individuals who do not have an identifiable genetic cause can stil... | Cherubism |
What is (are) Osteopathia striata cranial sclerosis ? | Osteopathia striata cranial sclerosis is a type of skeletal dysplasia, which refers to a group of genetic conditions that affect the bones and hinder growth and development. The severity of the condition and the associated symptoms vary significantly from person to person, even within a single family. Features of the c... | Osteopathia striata cranial sclerosis |
What are the symptoms of Osteopathia striata cranial sclerosis ? | What are the signs and symptoms of Osteopathia striata cranial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopathia striata cranial sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Osteopathia striata cranial sclerosis |
What is (are) Neuronal ceroid lipofuscinosis 9 ? | Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), ... | Neuronal ceroid lipofuscinosis 9 |
What are the symptoms of Neuronal ceroid lipofuscinosis 9 ? | What are the signs and symptoms of Neuronal ceroid lipofuscinosis 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Neuronal ceroid lipofuscinosis 9 |
What is (are) Bilateral frontoparietal polymicrogyria ? | Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disabili... | Bilateral frontoparietal polymicrogyria |
What are the symptoms of Bilateral frontoparietal polymicrogyria ? | What are the signs and symptoms of Bilateral frontoparietal polymicrogyria? The signs and symptoms of bilateral frontoparietal polymicrogyria vary but may include: Moderate to severe intellectual disability Developmental delay Seizures Dysconjugate gaze (eyes that are not aligned) Ataxia Strabismus Increased muscle ton... | Bilateral frontoparietal polymicrogyria |
What is (are) Mycetoma ? | Mycetoma is a chronic infection that is caused by fungi or actinomycetes (bacteria that produce filaments, like fungi). The first symptom of the condition is generally painless swelling beneath the skin, which progresses to a nodule (lump) over several years. Eventually, affected people experience massive swelling and ... | Mycetoma |
What are the symptoms of Uropathy distal obstructive polydactyly ? | What are the signs and symptoms of Uropathy distal obstructive polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Uropathy distal obstructive polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Uropathy distal obstructive polydactyly |
What is (are) Paroxysmal nocturnal hemoglobinuria ? | Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells. It can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses on th... | Paroxysmal nocturnal hemoglobinuria |
What are the symptoms of Progeroid syndrome Petty type ? | What are the signs and symptoms of Progeroid syndrome Petty type? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeroid syndrome Petty type. 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... | Progeroid syndrome Petty type |
What are the symptoms of Omphalocele cleft palate syndrome lethal ? | What are the signs and symptoms of Omphalocele cleft palate syndrome lethal? The Human Phenotype Ontology provides the following list of signs and symptoms for Omphalocele cleft palate syndrome lethal. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Omphalocele cleft palate syndrome lethal |
What are the symptoms of Beukes familial hip dysplasia ? | What are the signs and symptoms of Beukes familial hip dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beukes familial hip 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 Medli... | Beukes familial hip dysplasia |
What are the symptoms of Muscular dystrophy, congenital, infantile with cataract and hypogonadism ? | What are the signs and symptoms of Muscular dystrophy, congenital, infantile with cataract and hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, infantile with cataract and hypogonadism. If the information is available, the table below inclu... | Muscular dystrophy, congenital, infantile with cataract and hypogonadism |
What causes Primary melanoma of the central nervous system ? | What causes primary melanoma of the central nervous system? Although the exact cause of this condition is unknown, researchers have identified somatic mutations in the the GNAQ gene in 7 of 19 patients (37 percent) with primary malignant melanocytic tumors of the central nervous system. Somatic mutations are not inheri... | Primary melanoma of the central nervous system |
What are the symptoms of Bardet-Biedl syndrome 8 ? | What are the signs and symptoms of Bardet-Biedl syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 8. 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... | Bardet-Biedl syndrome 8 |
What is (are) Oculofaciocardiodental syndrome ? | Oculofaciocardiodental syndrome is a genetic syndrome that affects the eyes, heart, face, and teeth. Common signs and symptoms include abnormally small deep-set eyes, cataracts, long narrow face, a broad nasal tip that is divided by a cleft, heart defects, and teeth with very large roots. Other signs and symptoms inclu... | Oculofaciocardiodental syndrome |
What are the symptoms of Oculofaciocardiodental syndrome ? | What are the signs and symptoms of Oculofaciocardiodental syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculofaciocardiodental 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 M... | Oculofaciocardiodental syndrome |
What are the symptoms of Acrocapitofemoral dysplasia ? | What are the signs and symptoms of Acrocapitofemoral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocapitofemoral 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... | Acrocapitofemoral dysplasia |
What are the symptoms of Vocal cord dysfunction familial ? | What are the signs and symptoms of Vocal cord dysfunction familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Vocal cord dysfunction familial. 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... | Vocal cord dysfunction familial |
What are the symptoms of Camptodactyly syndrome Guadalajara type 1 ? | What are the signs and symptoms of Camptodactyly syndrome Guadalajara type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara type 1. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | Camptodactyly syndrome Guadalajara type 1 |
What is (are) Fanconi anemia ? | Fanconi anemia is an inherited condition that affects the bone marrow, resulting in decreased production of all types of blood cells. People with this condition have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot). Not enough white blood cells can lead to ... | Fanconi anemia |
What are the symptoms of Fanconi anemia ? | What are the signs and symptoms of Fanconi anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi anemia. 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... | Fanconi anemia |
What are the symptoms of Syndactyly type 9 ? | What are the signs and symptoms of Syndactyly type 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly type 9. 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 Dictionar... | Syndactyly type 9 |
What are the symptoms of Sea-Blue histiocytosis ? | What are the signs and symptoms of Sea-Blue histiocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Sea-Blue histiocytosis. 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... | Sea-Blue histiocytosis |
What is (are) Globozoospermia ? | Globozoospermia is a rare form of male infertility. Men affected by this condition have abnormal sperm with a round (rather than oval) head and no acrosome (a cap-like covering which contains enzymes that break down the outer membrane of an egg cell). As a result of these abnormalities, the sperm are unable to fertiliz... | Globozoospermia |
What are the symptoms of Globozoospermia ? | What are the signs and symptoms of Globozoospermia? The Human Phenotype Ontology provides the following list of signs and symptoms for Globozoospermia. 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... | Globozoospermia |
What is (are) Felty's syndrome ? | Felty's syndrome is a rare, potentially serious disorder that is defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (splenomegaly) and a decreased white blood cell count (neutropenia), which causes repeated infections. Although some individuals with Felty's syndrome are asymptoma... | Felty's syndrome |
What are the symptoms of Felty's syndrome ? | What are the signs and symptoms of Felty's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Felty's 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 ... | Felty's syndrome |
What causes Felty's syndrome ? | What causes Felty's syndrome? The exact cause of Felty's syndrome is unknown, although several causes and risk factors have been proposed. Some experts believe it may be an autoimmune disorder, and that it may sometimes be inherited in an autosomal dominant manner. Other proposed risk factors have included: RF (rheumat... | Felty's syndrome |
Is Felty's syndrome inherited ? | Is Felty's syndrome inherited? It has not been concluded that Felty's syndrome is an inherited condition; most individuals with Felty's syndrome have not had a history of the condition in their family. However, there have been a few reports of the condition appearing to be familial. Furthermore, although the condition ... | Felty's syndrome |
What is (are) Aspergillosis ? | Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing ... | Aspergillosis |
What are the treatments for Aspergillosis ? | How might aspergillosis be treated? If the infection is widespread or the person appears seriously ill, treatment is started immediately. Voriconazole is currently first-line treatment for invasive aspergillosis and is usually given intravenously. There are other antifungal drugs that can be used to treat invasive aspe... | Aspergillosis |
What is (are) Primary angiitis of the central nervous system ? | Primary angiitis of the central nervous system is a rare form of vasculitis (inflammation of blood vessels) affecting the blood vessels that nourish the brain, spinal cord and peripheral nerves. This condition can lead to narrowing and blockage of the blood vessels of the central nervous system which can eventually cau... | Primary angiitis of the central nervous system |
What are the treatments for Primary angiitis of the central nervous system ? | How might primary angiitis of the central nervous system be treated? The current treatment recommendation is to start with oral prednisone at a dose of 1 mg/kg per day and cyclophosphamide at a dose of 2 mg/kg per day. Most centers use prednisone and cyclophosphamide for 4-6 months to induce clinical remission, and th... | Primary angiitis of the central nervous system |
What are the symptoms of Leber congenital amaurosis 4 ? | What are the signs and symptoms of Leber congenital amaurosis 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 4. 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 4 |
What are the symptoms of Verloove Vanhorick Brubakk syndrome ? | What are the signs and symptoms of Verloove Vanhorick Brubakk syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Verloove Vanhorick Brubakk syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Verloove Vanhorick Brubakk syndrome |
What is (are) Limited cutaneous systemic sclerosis ? | Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. The exact cause of limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to o... | Limited cutaneous systemic sclerosis |
What are the symptoms of Limited cutaneous systemic sclerosis ? | What are the signs and symptoms of Limited cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Limited cutaneous systemic sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Limited cutaneous systemic sclerosis |
What are the treatments for Limited cutaneous systemic sclerosis ? | How might CREST syndrome be treated? Unfortunately, CREST syndrome has no known cure. The condition carries both physical and psychological consequences, so a holistic approach to management should be taken. Treatment generally focuses on relieving signs and symptoms and preventing complications. Heartburn may be relie... | Limited cutaneous systemic sclerosis |
What is (are) Achondrogenesis type 1A ? | Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications. There are at least three forms of achondr... | Achondrogenesis type 1A |
What are the symptoms of Achondrogenesis type 1A ? | What are the signs and symptoms of Achondrogenesis type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis type 1A. 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... | Achondrogenesis type 1A |
What is (are) Spinocerebellar ataxia autosomal recessive 7 ? | Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cer... | Spinocerebellar ataxia autosomal recessive 7 |
What are the symptoms of Spinocerebellar ataxia autosomal recessive 7 ? | What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 7. If the information is available, the table below includes how often the symptom is seen in people with this co... | Spinocerebellar ataxia autosomal recessive 7 |
What are the symptoms of Upington disease ? | What are the signs and symptoms of Upington disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Upington disease. 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 ... | Upington disease |
What are the symptoms of Methylmalonic acidemia with homocystinuria, type cblJ ? | What are the signs and symptoms of Methylmalonic acidemia with homocystinuria, type cblJ? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria, type cblJ. If the information is available, the table below includes how often the symptom is seen in p... | Methylmalonic acidemia with homocystinuria, type cblJ |
What are the symptoms of Syndactyly-polydactyly-earlobe syndrome ? | What are the signs and symptoms of Syndactyly-polydactyly-earlobe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly-polydactyly-earlobe syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Syndactyly-polydactyly-earlobe syndrome |
What is (are) Schistosomiasis ? | Schistosomiasis is a disease caused by parasitic worms. Although the worms that cause schistosomiasis are not found in the United States, more than 200 million people are infected worldwide. Infection occurs through contact with contaminated water. The parasite in its infective stages is called a cercaria. It swims fre... | Schistosomiasis |
What are the symptoms of Schistosomiasis ? | What are the signs and symptoms of Schistosomiasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Schistosomiasis. 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... | Schistosomiasis |
How to diagnose Schistosomiasis ? | How is schistosomiasis diagnosed? Examination of stool and/or urine for ova is the primary method of diagnosis for schistosomiasis. The choice of sample depends on the suspected species, which may be determined by careful review of travel and residence history. The sensitivity of this testing can be limited by the inte... | Schistosomiasis |
What are the symptoms of Severe congenital neutropenia autosomal recessive 3 ? | What are the signs and symptoms of Severe congenital neutropenia autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia autosomal recessive 3. If the information is available, the table below includes how often the symptom is seen in peopl... | Severe congenital neutropenia autosomal recessive 3 |
What is (are) Prune belly syndrome ? | Prune belly syndrome, also called Eagle-Barrett syndrome, is a condition characterized by three main features: (1) a lack of abdominal muscles, causing the skin on the belly area to wrinkle and appear "prune-like"; (2) undescended testicles in males; and (3) urinary tract problems. The incidence of prune belly syndrom... | Prune belly syndrome |
What are the symptoms of Prune belly syndrome ? | What are the signs and symptoms of Prune belly syndrome? The severity of symptoms in infants with prune belly syndrome can vary greatly from child to child. Common symptoms are poorly developed abdominal muscles, undescended testicles in males, and urinary tract problems such as swelling of the kidney, abnormally devel... | Prune belly syndrome |
What causes Prune belly syndrome ? | What causes prune belly syndrome? The underlying cause of prune belly syndrome is unknown. The condition may occur if there is a blockage preventing the flow of urine through the urinary tract. The blockage can cause the urine to flow back into the bladder, enlarging it. | Prune belly syndrome |
What are the treatments for Prune belly syndrome ? | How might prune belly syndrome be treated? The initial evaluation of the newborn with prune belly syndrome requires a team consisting of a neonatologist, nephrologist, urologist and in some cases other specialists (e.g., cardiologist) as well. Treatment options depend on the child's age, health, medical history, extend... | Prune belly syndrome |
What are the symptoms of Leber congenital amaurosis 10 ? | What are the signs and symptoms of Leber congenital amaurosis 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 10. 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... | Leber congenital amaurosis 10 |
What are the symptoms of Spondyloepimetaphyseal dysplasia Matrilin-3 related ? | What are the signs and symptoms of Spondyloepimetaphyseal dysplasia Matrilin-3 related? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia Matrilin-3 related. If the information is available, the table below includes how often the symptom is seen in peopl... | Spondyloepimetaphyseal dysplasia Matrilin-3 related |
What are the symptoms of Alopecia macular degeneration growth retardation ? | What are the signs and symptoms of Alopecia macular degeneration growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia macular degeneration growth retardation. If the information is available, the table below includes how often the symptom is seen in people with... | Alopecia macular degeneration growth retardation |
What is (are) Meningioma ? | Meningiomas originate in the meninges, the membranes that surround the brain and spinal cord. Most meningiomas are benign, though a minority of meningiomas can be classified as atypical or malignant. Though rare, malignant meningiomas can be highly aggressive. However, even benign meningiomas can cause problems if thei... | Meningioma |
What are the treatments for Meningioma ? | How might meningiomas be treated? The treatment varies depending on the location of the meningioma and the symptoms caused by the tumor. Careful observation is sometimes the best course of action for people with a meningioma. When treatment is necessary, surgery and radiation are the most common forms of treatment. Rad... | Meningioma |
What is (are) Progressive hemifacial atrophy ? | Progressive hemifacial atrophy, or Parry-Romberg syndrome, is a condition that causes the breakdown of the skin and soft tissues of half of the face. Symptoms and severity vary from person to person. This condition tends to begin in childhood between the ages of 5 and 15 years, and worsen over the course of 2 to 10 yea... | Progressive hemifacial atrophy |
What are the symptoms of Progressive hemifacial atrophy ? | What are the signs and symptoms of Progressive hemifacial atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive hemifacial atrophy. 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... | Progressive hemifacial atrophy |
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