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What are the treatments for Cone-rod dystrophy ? | How might cone-rod dystrophy be treated? Currently, there is no therapy that stops the evolution of cone-rod dystrophy or restores vision. There are a few treatment options, such as light avoidance and the use of low-vision aids that may help to slow down the degenerative process. It is important that people with cone-... | |
What are the symptoms of Chylomicron retention disease ? | What are the signs and symptoms of Chylomicron retention disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Chylomicron retention 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 Medli... | |
What is (are) Usher syndrome, type 1C ? | 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... | |
What are the symptoms of Usher syndrome, type 1C ? | What are the signs and symptoms of Usher syndrome, type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1C. 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... | |
Is Usher syndrome, type 1C 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... | |
What is (are) Klinefelter syndrome ? | Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also experience primary hypogon... | |
What are the symptoms of Klinefelter syndrome ? | What are the signs and symptoms of Klinefelter syndrome? The signs and symptoms of Klinefelter syndrome (KS) vary among affected people. Some men with KS have no symptoms of the condition or are only mildy affected. In these cases, they may not even know that they are affected by KS. When present, symptoms may include:... | |
What causes Klinefelter syndrome ? | What causes Klinefelter syndrome? Klinefelter syndrome usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or mo... | |
Is Klinefelter syndrome inherited ? | Is Klinefelter syndrome inherited? Klinefelter syndrome is not inherited, but usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sper... | |
How to diagnose Klinefelter syndrome ? | How is Klinefelter syndrome diagnosed? A diagnosis of Klinefelter syndrome is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally includes a chromosomal analysis (called a karyotype). It is also possible to diagnosis... | |
What are the treatments for Klinefelter syndrome ? | How might Klinefelter syndrome be treated? Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. When a diagnosis is made, treatment is based on the signs and symptoms present in each person. This may include: Educational interventions - As children, many ... | |
What are the symptoms of Thalamic degeneration, symmetric infantile ? | What are the signs and symptoms of Thalamic degeneration, symmetric infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Thalamic degeneration, symmetric infantile. If the information is available, the table below includes how often the symptom is seen in people with this condit... | |
What is (are) Achondroplasia ? | Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size, small fingers, and normal intelligence. Achondroplasia can cause health complication... | |
What are the symptoms of Achondroplasia ? | What are the signs and symptoms of Achondroplasia? In babies, apnea occurs when breathing stops for more than 15 seconds. Snoring is often a sign of apnea, however most children with achondroplasia snore. Obstructive apnea or disordered breathing in sleep may be suspected if the child has increased retraction, glottal ... | |
What causes Achondroplasia ? | What causes achondroplasia? Achondroplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researc... | |
Is Achondroplasia inherited ? | Is achondroplasia inherited? Most cases of achondroplasia are not inherited. When it is inherited, it follows an autosomal dominant pattern of inheritance. About 80% of individuals who have achondroplasia have parents with normal stature and are born with the condition as a result of a new (de novo) gene alteration (mu... | |
What are the treatments for Achondroplasia ? | How might children with achondroplasia be treated? Recommendations for management of children with achondroplasia were outlined by the American Academy of Pediatrics Committee on Genetics in the article, Health Supervision for Children with Achondroplasia. We recommend that you review this article with your childs heal... | |
What is (are) Treacher Collins syndrome ? | Treacher Collins syndrome (TCS) is a condition that affects the development of bones and other tissues of the face. The signs and symptoms vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (microgn... | |
What are the symptoms of Treacher Collins syndrome ? | What are the signs and symptoms of Treacher Collins syndrome? The signs and symptoms of Treacher Collins syndrome vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with ... | |
What causes Treacher Collins syndrome ? | What causes Treacher Collins syndrome? Treacher Collins syndrome (TCS) is caused by changes (mutations) in any of several genes: TCOF1 (in over 80% of cases), POLR1C, or POLR1D. In a few cases, the genetic cause of the condition is unknown. These genes appear to play important roles in the early development of bones an... | |
What are the treatments for Treacher Collins syndrome ? | How might Treacher Collins syndrome be treated? There is currently no cure for Treacher Collins syndrome (TCS). Treatment is tailored to the specific needs of each affected person. Ideally, treatment is managed by a multidisciplinary team of craniofacial specialists. Newborns may need special positioning or tracheostom... | |
What is (are) Dystonia 8 ? | Paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes periods of involuntary movement. Common symptoms include 1 to 4 hour long episodes of irregular, jerking or shaking movements, prolonged contraction of muscles, chorea, and/or writhing movements of the limb. The movements may have no k... | |
What are the symptoms of Dystonia 8 ? | What are the signs and symptoms of Dystonia 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 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 Medical Dictionary to look up t... | |
What causes Dystonia 8 ? | Are there non-genetic causes of paroxysmal nonkinesigenic dyskinesia? Yes. Sporadic (non-genetic) causes of paroxysmal nonkinesigenic dyskinesia have been reported in the literature. Non-genetic causes include lesions of the basal ganglia due to multiple sclerosis, tumors, and vascular lesions. In addition, lesions out... | |
What is (are) TAR syndrome ? | TAR syndrome is characterized by the absence of a bone called the radius in each forearm, short stature, and thrombocytopenia. The thrombocytopenia often appears first in infancy but becomes less severe or returns to normal over time. Infants and young children are particularly vulnerable to episodes of severe bleeding... | |
What are the symptoms of TAR syndrome ? | What are the signs and symptoms of TAR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for TAR 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 ... | |
What are the symptoms of Acromesomelic dysplasia Maroteaux type ? | What are the signs and symptoms of Acromesomelic dysplasia Maroteaux type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic dysplasia Maroteaux type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What is (are) Kuskokwim disease ? | Kuskokwim disease is a congenital (present at birth) contracture disorder that occurs solely among Yup'ik Eskimos in and around the Kuskokwim River delta region of southwest Alaska. Affected individuals usually, but not always, have congenital contractures of large joints (especially knees and/or elbows) and spinal, pe... | |
What are the symptoms of Kuskokwim disease ? | What are the signs and symptoms of Kuskokwim disease? The range and and severity of signs and symptoms in individuals with Kuskokwim disease can vary, even among siblings. Affected individuals usually have congenital contractures, especially of lower extremities, which progress during childhood and persist for the life... | |
What are the treatments for Kuskokwim disease ? | How might Kuskokwim disease be treated? Treatment for Kuskokwim disease depends on the nature and severity of signs and symptoms in each affected individual. There is currently no completely successful approach to treat arthrogryposis. The goals of treatment may include lower-limb alignment, establishing stability for ... | |
What are the symptoms of Cleidorhizomelic syndrome ? | What are the signs and symptoms of Cleidorhizomelic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleidorhizomelic 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... | |
What are the symptoms of Sakati syndrome ? | What are the signs and symptoms of Sakati syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sakati 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... | |
What is (are) Mollaret meningitis ? | Mollaret meningitis is a rare type of meningitis that is characterized by repeated episodes of fever, stiff neck (meningismus), muscle aches, and severe headaches separated by weeks or months of no symptoms. About half of affected individuals may also experience long-term abnormalities of the nervous system that come ... | |
What are the symptoms of Mollaret meningitis ? | What are the symptoms of Mollaret meningitis? The symptoms of Mollaret meningitis are the same as those found in other types of meningitis. In Mollaret meningitis, however, the symptoms are recurring and are often accompanied by long-term irregularity of the nervous system. Common symptoms of meningitis may include: Hi... | |
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... | |
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... | |
What are the symptoms of Atrial septal defect ostium primum ? | What are the signs and symptoms of Atrial septal defect ostium primum? The Human Phenotype Ontology provides the following list of signs and symptoms for Atrial septal defect ostium primum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | |
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... | |
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... | |
What is (are) Tetralogy of Fallot ? | Tetralogy of Fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blo... | |
What are the symptoms of Tetralogy of Fallot ? | What are the signs and symptoms of Tetralogy of Fallot? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetralogy of Fallot. 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... | |
What is (are) Neurogenic diabetes insipidus ? | Neurogenic diabetes insipidus is a disease that causes frequent urination. This type of diabetes insipidus results from damage to the pituitary gland, which disrupts the normal storage and release of antidiuretic hormone (ADH). When this hormone reaches the kidneys, it directs them to make less urine. Damage to the pit... | |
What are the symptoms of Neurogenic diabetes insipidus ? | What are the signs and symptoms of Neurogenic diabetes insipidus? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurogenic diabetes insipidus. 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... | |
What is (are) Pallister-Killian mosaic syndrome ? | Pallister-Killian mosaic syndrome is a disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects. The signs and symptoms of the Pallist... | |
What are the symptoms of Pallister-Killian mosaic syndrome ? | What are the signs and symptoms of Pallister-Killian mosaic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pallister-Killian mosaic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | |
What is (are) Dominant optic atrophy ? | Dominant optic atrophy (DOA) is an inherited optic nerve disorder characterized by degeneration of the optic nerves. It typically starts during the first decade of life. Affected people usually develop moderate visual loss and color vision defects. The severity varies and visual acuity can range from normal to legal bl... | |
Is Dominant optic atrophy inherited ? | How is dominant optic atrophy inherited? Dominant optic atrophy (DOA) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene f... | |
What are the treatments for Dominant optic atrophy ? | How might dominant optic atrophy be treated? There is currently no cure for dominant optic atrophy (DOA). Management generally consists of regular eye exams, including measurement of visual acuity, color vision, visual fields and optical coherence tomography (OCT). Currently there is no specific treatment, but low-visi... | |
What are the symptoms of Hypertrichosis lanuginosa, acquired ? | What are the signs and symptoms of Hypertrichosis lanuginosa, acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis lanuginosa, acquired. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What is (are) Acute alcohol sensitivity ? | Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in... | |
What are the symptoms of Acute alcohol sensitivity ? | What are the signs and symptoms of Acute alcohol sensitivity ? The Human Phenotype Ontology provides the following list of signs and symptoms for Acute alcohol sensitivity . 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... | |
What are the symptoms of Severe congenital neutropenia X-linked ? | What are the signs and symptoms of Severe congenital neutropenia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What is (are) Selective IgM deficiency ? | Selective IgM deficiency or "Selective Immunoglobulin M deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteremia. The disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of IgM, normal levels of o... | |
What are the symptoms of Atrial myxoma, familial ? | What are the signs and symptoms of Atrial myxoma, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Atrial myxoma, 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 MedlinePlus Medic... | |
What are the symptoms of Marinesco-Sjogren syndrome ? | What are the signs and symptoms of Marinesco-Sjogren syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marinesco-Sjogren 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... | |
What are the symptoms of Camptodactyly arthropathy coxa vara pericarditis syndrome ? | What are the signs and symptoms of Camptodactyly arthropathy coxa vara pericarditis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly arthropathy coxa vara pericarditis syndrome. If the information is available, the table below includes how often the symptom is s... | |
What are the symptoms of Achromatopsia 3 ? | What are the signs and symptoms of Achromatopsia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Achromatopsia 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 MedlinePlus Medical Dictionary to... | |
What is (are) Autosomal recessive polycystic kidney disease ? | Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure) and liver and problems in other organs, such as the blood vessels in the brain and heart. The severity varies from person to person. The signs of ARPKD ... | |
What are the symptoms of Autosomal recessive polycystic kidney disease ? | What are the signs and symptoms of Autosomal recessive polycystic kidney disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive polycystic kidney disease. If the information is available, the table below includes how often the symptom is seen in people with this ... | |
Is Autosomal recessive polycystic kidney disease inherited ? | How is autosomal recessive polycystic kidney disease inherited? Autosomal recessive polycystic kidney disease (ARPKD) is inherited in an autosomal recessive manner. This means that an affected individual has two gene alterations (mutations) in the PKHD1 gene, with one mutation inherited from each parent. Each parent, w... | |
What are the treatments for Autosomal recessive polycystic kidney disease ? | Is there a cure or treatment for autosomal recessive polycystic kidney disease? Although a cure or treatment for the underlying genetic cause of autosomal recessive polycystic kidney disease does not exist, advancements have been made in showing improvement of liver and kidney disease in mouse models of the condition b... | |
What is (are) DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ? | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome causes a moderately increased risk for certain cancers and tumors. The lungs, kidneys, ovaries, and thyroid are the most commonly involved sites. Pleuropulmonary blastoma is the most commonly associated tumor and often occurs in infants and young ch... | |
What are the symptoms of DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ? | What are the signs and symptoms of DICER1-related pleuropulmonary blastoma cancer predisposition syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for DICER1-related pleuropulmonary blastoma cancer predisposition syndrome. If the information is available, the table below includes ... | |
What are the symptoms of Thoraco abdominal enteric duplication ? | What are the signs and symptoms of Thoraco abdominal enteric duplication? The Human Phenotype Ontology provides the following list of signs and symptoms for Thoraco abdominal enteric duplication. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What is (are) Nail-patella syndrome ? | Nail-patella syndrome is an inherited condition characterized by abnormalities of the nails, knees, elbows, and pelvis. Some affected people may also experience problems in other areas of the body such as the kidneys and eyes. The severity of the condition and the associated signs and symptoms can vary significantly fr... | |
What are the symptoms of Nail-patella syndrome ? | What are the signs and symptoms of Nail-patella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nail-patella 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 D... | |
What are the symptoms of Red cell phospholipid defect with hemolysis ? | What are the signs and symptoms of Red cell phospholipid defect with hemolysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Red cell phospholipid defect with hemolysis. If the information is available, the table below includes how often the symptom is seen in people with this cond... | |
What are the symptoms of Ruvalcaba syndrome ? | What are the signs and symptoms of Ruvalcaba syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ruvalcaba 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 Diction... | |
What is (are) Pontocerebellar hypoplasia type 1 ? | Pontocerebellar hypoplasia type 1 (PCH1) is a genetic condition that affects the development of the brain. Individuals with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly... | |
What are the symptoms of Pontocerebellar hypoplasia type 1 ? | What are the signs and symptoms of Pontocerebellar hypoplasia type 1? Pontocerebellar hypoplasia type 1 (PCH1) may first present in the prenatal period with reduced fetal movement. Polyhydramnios may also be noted. In most cases, the condition is obvious in the newborn period when respiratory insufficiency and muscle w... | |
What causes Pontocerebellar hypoplasia type 1 ? | What causes pontocerebellar hypoplasia type 1? A specific mutations in the VRK1 gene has caused PCH1 in at least one family. Specific mutations in RARS2 and TSEN54 have also been associated with PCH1. TSEN54 mutations were identified in one case from a family with three siblings with PCH1; DNA was only available in one... | |
Is Pontocerebellar hypoplasia type 1 inherited ? | How is pontocerebellar hypoplasia type 1 inherited? Pontocerebellar hypoplasia type 1 (PCH1) is inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated g... | |
What are the treatments for Pontocerebellar hypoplasia type 1 ? | How might pontocerebellar hypoplasia type 1 be treated? There is no standard therapy for pontocerebellar hypoplasia type 1. Treatment is symptomatic and supportive. | |
What is (are) Chancroid ? | Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more. About half of the people wh... | |
What is (are) Aicardi-Goutieres syndrome type 5 ? | Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin les... | |
What are the symptoms of Aicardi-Goutieres syndrome type 5 ? | What are the signs and symptoms of Aicardi-Goutieres syndrome type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | |
What is (are) Kyrle disease ? | Kyrle disease is a skin disease characterized by the formation of large papules and is often associated with underlying hepatic, renal or diabetic disorders. It can affect both men and women throughout life, although the average age of onset is 30 years. Lesions typically begin as small papules with silvery scales that... | |
What are the symptoms of Kyrle disease ? | What are the signs and symptoms of Kyrle disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Kyrle 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 to loo... | |
What causes Kyrle disease ? | What causes Kyrle disease? The cause of Kyrle disease is currently unknown. Some cases appear to be idiopathic (no known triggers), or inherited. What has been found is that Kyrle disease appears to occur more frequently in patients with certain systemic disorders, which include diabetes mellitus; renal disease (chroni... | |
What are the treatments for Kyrle disease ? | How might Kyrle disease be treated? Kyrle disease is most often associated with a systemic disorder, although idiopathic cases without any associated disease have occurred. Therefore, treatment is typically directed toward the underlying condition when appropriate. For individuals in whom itching is a major problem, so... | |
What are the symptoms of Lubinsky syndrome ? | What are the signs and symptoms of Lubinsky syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lubinsky 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... | |
What are the symptoms of Oculoectodermal syndrome ? | What are the signs and symptoms of Oculoectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculoectodermal 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... | |
What are the symptoms of Genochondromatosis ? | What are the signs and symptoms of Genochondromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Genochondromatosis. 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 Diction... | |
What is (are) Inflammatory breast cancer ? | Inflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer in which the cancer cells block the lymph vessels in the skin of the breast. This type of breast cancer is called inflammatory because the breast often looks swollen and red, or inflamed. The skin may also look dimpled like the skin of an o... | |
What is (are) Mastocytic enterocolitis ? | Mastocytic enterocolitis is a term describing the condition of chronic, intractable diarrhea in people with normal colon or duodenum biopsy results, but with an increased number of mast cells in the colonic mucosa (the innermost layer of the colon). The increase in mast cells is not associated with systemic or cutaneou... | |
What are the symptoms of Mastocytic enterocolitis ? | What are the signs and symptoms of mastocytic enterocolitis? According to the medical literature, signs and symptoms of mastocytic enterocolitis primarily include chronic, intractable diarrhea and abdominal pain. Other symptoms that have occasionally been reported include constipation, nausea, and/or vomiting. Although... | |
How to diagnose Mastocytic enterocolitis ? | How is mastocytic enterocolits diagnosed? Mastocytic enterocolitis is diagnosed after an endoscopic procedure in which the doctor takes samples of tissues (biopsies) from the lining of the intestines. The tissue is then sent to a pathologist who looks at it under the microscope. Mast cells may be hard to see on biopsie... | |
What are the treatments for Mastocytic enterocolitis ? | How might mastocytic enterocolitis be treated? There is very limited information in the medical literature about the treatment of mastocytic enterocolitis. Options that have been suggested include antihistamines and/or medications that alter mast cell mediator release and function, or mast cell stabilizers. Symptoms of... | |
What is (are) Hypochondroplasia ? | Hypochondroplasia is a form dwarfism that affects the conversion of cartilage into bone, particularly in the long bones of the arms and legs. Hypochondroplasia is similar to achondroplasia, but the features tend to be milder. People with this condtion usually have short arms and legs and broad, short hands and feet. Ot... | |
What are the symptoms of Hypochondroplasia ? | What are the signs and symptoms of Hypochondroplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochondroplasia. 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... | |
What are the treatments for Hypochondroplasia ? | How might hypochondroplasia be treated? The evaluation of children with hypochondroplasia usually does not differ significantly from the evaluation of children with normal stature, except for genetic counseling issues (such as risk of recurrence) and dealing with parental concerns about short stature. Management of sho... | |
What are the symptoms of Al Gazali Sabrinathan Nair syndrome ? | What are the signs and symptoms of Al Gazali Sabrinathan Nair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Al Gazali Sabrinathan Nair syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What is (are) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ? | Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, also known as CANDLE syndrome, is a rare autoinflammatory condition. Signs and symptoms generally develop during the first year of life and may include recurrent fevers, purpura, swollen eyelids, joint pain, contractures, developmenta... | |
What are the symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ? | What are the signs and symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature. If the information is availabl... | |
What is (are) Dravet syndrome ? | Dravet syndrome is a severe form of epilepsy. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists... | |
What are the symptoms of Dravet syndrome ? | What are the signs and symptoms of Dravet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dravet 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... | |
What is (are) Florid cemento-osseous dysplasia ? | Florid cemento-osseous dysplasia is characterized by lesions in the upper and/or lower jaw that occur when normal bone is replaced with a mix of connective tissue and abnormal bone. It tends to affect middle aged women, particularly women of African American and Asian descent. The lesions often affect both sides of the... | |
What are the symptoms of Florid cemento-osseous dysplasia ? | What are the signs and symptoms of Florid cemento-osseous dysplasia? Usually florid cemento-osseous dysplasia causes no signs or symptoms and is identified incidentally during a radiograph taken for some other purpose. Occasionally however, the lesions expand causing discomfort, pain, and/or mild disfigurement. The Hum... | |
What causes Florid cemento-osseous dysplasia ? | What causes florid cemento-osseous dysplasia? The cause of florid cemento-osseous dysplasia is not known. This condition is usually not familial (i.e., does not tend to run in families), however a rare familial form has been described in a few families. In these families the condition affected younger individuals, and ... | |
How to diagnose Florid cemento-osseous dysplasia ? | How is florid cemento-osseous dysplasia diagnosed? Diagnosis of cemento-osseous dysplasia relies on the radiographic findings of the lesions as well as the clinical signs and symptoms. Careful assessment and examination must be made to differentiate cemento-osseous dysplasia from other lesions with similar appearance, ... |
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