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genetic changes | What are the genetic changes related to Mainzer-Saldino syndrome ? | Mainzer-Saldino syndrome is usually caused by mutations in the IFT140 gene. This gene provides instructions for making a protein that is involved in the formation and maintenance of cilia, which are microscopic, finger-like projections that stick out from the surface of cells and participate in signaling pathways that ... |
treatment | What are the treatments for type A insulin resistance syndrome ? | These resources address the diagnosis or management of type A insulin resistance syndrome: - Genetic Testing Registry: Insulin-resistant diabetes mellitus AND acanthosis nigricans These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests ... |
symptoms | What are the symptoms of Early infantile epileptic encephalopathy 25 ? | What are the signs and symptoms of Early infantile epileptic encephalopathy 25? The Human Phenotype Ontology provides the following list of signs and symptoms for Early infantile epileptic encephalopathy 25. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
information | What is (are) Sjgren syndrome ? | Sjgren syndrome is a disorder whose main features are dry eyes and a dry mouth. The condition typically develops gradually beginning in middle adulthood, but can occur at any age. Sjgren syndrome is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the b... |
inheritance | Is nonsyndromic paraganglioma inherited ? | Nonsyndromic paraganglioma can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing a paraganglioma or pheochromocytoma. People with mutations in the gene inherit an increased risk of this condition, not the condition itsel... |
information | What is (are) Prescription and Illicit Drug Abuse ? | Addiction is a chronic disease in which a person craves, seeks, and continues to abuse a legal (medication, alcohol, tobacco) or an illicit (illegal) drug, despite harmful consequences. People who are addicted continue to abuse the substance even though it can harm their physical or mental health, lead to accidents, or... |
frequency | How many people are affected by popliteal pterygium syndrome ? | Popliteal pterygium syndrome is a rare condition, occurring in approximately 1 in 300,000 individuals. |
treatment | What are the treatments for Empty Sella Syndrome ? | Unless the syndrome results in other medical problems, treatment for endocrine dysfunction associated with pituitary malfunction is symptomatic and supportive. Individuals with primary ESS who have high levels of prolactin may be given bromocriptine. In some cases, particularly when spinal fluid drainage is observed, s... |
symptoms | What are the symptoms of Fucosidosis type 1 ? | What are the signs and symptoms of Fucosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Fucosidosis type 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 MedlinePlus Medical Diction... |
research | what research (or clinical trials) is being done for Brown-Sequard Syndrome ? | The NINDS supports and conducts a wide range of research on spinal cord disorders such as BSS. The goal of this research is to find ways to prevent, treat, and, ultimately, cure these disorders. |
information | What is (are) trisomy 13 ? | Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fi... |
genetic changes | What are the genetic changes related to early-onset primary dystonia ? | A particular mutation in the TOR1A gene (also known as DYT1) is responsible for most cases of early-onset primary dystonia. The TOR1A gene provides instructions for making a protein called torsinA. Although little is known about its function, this protein may help process and transport other proteins within cells. It a... |
symptoms | What are the symptoms of Familial erythema nodosum ? | What are the signs and symptoms of Familial erythema nodosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial erythema nodosum. 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... |
genetic changes | What are the genetic changes related to Dubin-Johnson syndrome ? | Dubin-Johnson syndrome is caused by mutations in the ABCC2 gene. The ABCC2 gene provides instructions for making a protein called multidrug resistance protein 2 (MRP2). This protein acts as a pump to transport substances out of the liver, kidneys, intestine, or placenta so they can be excreted from the body. For exampl... |
treatment | What are the treatments for Cystocele ? | Cystocele treatment depends on the severity of the cystocele and whether a woman has symptoms. If a womans cystocele does not bother her, a health care provider may recommend only that she avoid heavy lifting or straining, which could worsen her cystocele. If a woman has symptoms that bother her and wants treatment, th... |
treatment | What are the treatments for iron-refractory iron deficiency anemia ? | These resources address the diagnosis or management of iron-refractory iron deficiency anemia: - National Heart, Lung, and Blood Institute: How is Anemia Diagnosed? - National Heart, Lung, and Blood Institute: How is Anemia Treated? These resources from MedlinePlus offer information about the diagnosis and manageme... |
treatment | What are the treatments for Rabson-Mendenhall syndrome ? | These resources address the diagnosis or management of Rabson-Mendenhall syndrome: - Genetic Testing Registry: Pineal hyperplasia AND diabetes mellitus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - S... |
inheritance | Is Schindler disease type 1 inherited ? | How is Schindler disease type 1 inherited? Schindler disease type 1 is inherited in an autosomal recessive pattern. This means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically so not s... |
research | what research (or clinical trials) is being done for Diabetic Neuropathy ? | The NINDS conducts and supports research on diabetic neuropathy to increase understanding of the disorder and find ways to prevent and cure it. New medications are currently being examined to assess improvement or stabilization of neuropathic symptoms. |
inheritance | Is Bjrnstad syndrome inherited ? | Bjrnstad syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
information | What is (are) Cronkhite-Canada disease ? | Cronkhite-Canada syndrome is a rare gastrointestinal disorder characterized by widespread colon polyps, unhealthy looking (dystrophic) nails, hair loss (alopecia), darkening skin (such as on the hands, arms, neck and face), diarrhea, weight loss, stomach pain, and/or excess fluid accumulation in arms and legs (peripher... |
considerations | What to do for What I need to know about Hepatitis B ? | - Hepatitis B is a virus, or infection, that causes liver disease and inflammation of the liver. - Anyone can get hepatitis B, but some people are more likely to than others. - You could get hepatitis B through contact with an infected persons blood, semen, or other body fluid. - Most people do not have any symptoms... |
exams and tests | How to diagnose Hereditary sensory neuropathy type 1 ? | Is genetic testing available for hereditary sensory neuropathy type 1? At least four genes responsible for hereditary sensory neuropathy type 1 (HSN1) have been found: HSN1A (the most common form) is associated with mutations in the SPTLC1 gene HSN1B, reported in a small number of families, is linked to a specific loca... |
treatment | What are the treatments for Adult Central Nervous System Tumors ? | Key Points
- There are different types of treatment for patients with adult brain and spinal cord tumors. - Five types of standard treatment are used: - Active surveillance - Surgery - Radiation therapy - Chemotherapy - Targeted therapy - Supportive care is given ... |
symptoms | What are the symptoms of Summitt syndrome ? | What are the signs and symptoms of Summitt syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Summitt 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 ... |
information | What is (are) Homocystinuria ? | Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form, called cystathionine beta-synthase deficiency, is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, skeletal abno... |
causes | What causes Lichen sclerosus ? | What causes lichen sclerosus? The underlying cause of lichen sclerosus is not fully understood. The condition may be due to genetic, hormonal, irritant and/or infectious factors (or a combination of these factors). It is believed to relate to an autoimmune process, in which antibodies mistakenly attack a component of t... |
treatment | What are the treatments for familial hypobetalipoproteinemia ? | These resources address the diagnosis or management of familial hypobetalipoproteinemia: - Genetic Testing Registry: Familial hypobetalipoproteinemia - Genetic Testing Registry: Hypobetalipoproteinemia, familial, 2 These resources from MedlinePlus offer information about the diagnosis and management of various heal... |
information | What is (are) Pancreatic Cancer ? | Key Points
- Pancreatic cancer is a disease in which malignant (cancer) cells form in the tissues of the pancreas. - Smoking and health history can affect the risk of pancreatic cancer. - Signs and symptoms of pancreatic cancer include jaundice, pain, and weight loss. - Pancreatic cancer is... |
information | What is (are) Neurofibromatosis ? | The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system. The tumors begin in the supporting cells that make up the nerves and the myelin sheath--the thin membrane that envelops and protects the nerves. These disorders cause tumors to grow on nerves and, less frequently, in the brain ... |
outlook | What is the outlook for Thyrotoxic Myopathy ? | With treatment, muscle weakness may improve or be reversed. |
information | What is (are) EEC syndrome ? | EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate) is a rare form of ectodermal dysplasia. The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or pa... |
symptoms | What are the symptoms of Bardet-Biedl syndrome 7 ? | What are the signs and symptoms of Bardet-Biedl syndrome 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 7. 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... |
information | What is (are) Pompe disease ? | Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. Researchers have described three types of Pompe disease, which differ in sever... |
information | Do you have information about Germs and Hygiene | Summary : When you cough or sneeze, you send tiny germ-filled droplets into the air. Colds and flu usually spread that way. You can help stop the spread of germs by - Covering your mouth and nose when you sneeze or cough. Sneeze or cough into your elbow, not your hands. - Cleaning your hands often - always bef... |
treatment | What are the treatments for Incontinentia Pigmenti ? | The skin abnormalities of IP usually disappear by adolescence or adulthood without treatment. Diminished vision may be treated with corrective lenses, medication, or, in severe cases, surgery. A specialist may treat dental problems. Neurological symptoms such as seizures, muscle spasms, or mild paralysis may be control... |
treatment | What are the treatments for complement factor I deficiency ? | These resources address the diagnosis or management of complement factor I deficiency: - MedlinePlus Encyclopedia: Complement These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Geneti... |
treatment | What are the treatments for congenital leptin deficiency ? | These resources address the diagnosis or management of congenital leptin deficiency: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Are Obesity and Overweight Diagnosed? - Genetic Testing Registry: Obesity, severe, due to leptin deficiency - Genetics of Obesity Study - Nation... |
symptoms | What are the symptoms of Baraitser-Winter syndrome ? | What are the signs and symptoms of Baraitser-Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Baraitser-Winter 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... |
treatment | What are the treatments for Silver syndrome ? | These resources address the diagnosis or management of Silver syndrome: - Gene Review: Gene Review: BSCL2-Related Neurologic Disorders/Seipinopathy - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Genetic Testing Registry: Spastic paraplegia 17 - Spastic Paraplegia Foundation, Inc.: Treatments a... |
frequency | How many people are affected by Myhre syndrome ? | Myhre syndrome is a rare disorder. Only about 30 cases have been documented in the medical literature. For reasons that are unknown, most affected individuals have been males. |
information | What is (are) Dermatofibrosarcoma protuberans ? | Dermatofibrosarcoma protuberans is an uncommon cancer in which tumors arise in the deeper layers of skin. The tumor usually starts as a small, firm patch of skin; it may be purplish, reddish, or flesh-colored. It is commonly found on the torso, usually in the shoulder and chest area. The tumor typically grows slowly bu... |
information | What is (are) Coats disease ? | Coats disease is an eye disorder characterized by abnormal development of the blood vessels in the retina (retinal telangiectasia). Most affected people begin showing symptoms of the condition in childhood. Early signs and symptoms vary but may include vision loss, crossed eyes (strabismus), and a white mass in the pup... |
frequency | How many people are affected by amelogenesis imperfecta ? | The exact incidence of amelogenesis imperfecta is uncertain. Estimates vary widely, from 1 in 700 people in northern Sweden to 1 in 14,000 people in the United States. |
genetic changes | What are the genetic changes related to trimethylaminuria ? | Mutations in the FMO3 gene cause trimethylaminuria. This gene provides instructions for making an enzyme that breaks down nitrogen-containing compounds from the diet, including trimethylamine. This compound is produced by bacteria in the intestine during the digestion of proteins from eggs, liver, legumes (such as soyb... |
information | What is (are) Piercing and Tattoos ? | Piercings and tattoos are body decorations that go back to ancient times. Body piercing involves making a hole in the skin so that you can insert jewelry. This is often in the earlobe, but can be in other parts of the body. Tattoos are designs on the skin made with needles and colored ink. A permanent tattoo is meant t... |
symptoms | What are the symptoms of Neuronal ceroid lipofuscinosis ? | What are the signs and symptoms of Neuronal ceroid lipofuscinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis. 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... |
inheritance | Is Isovaleric acidemia inherited ? | How is isovaleric acidemia inherited? Isovaleric acidemia is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and ... |
symptoms | What are the symptoms of Cornea guttata with anterior polar cataract ? | What are the signs and symptoms of Cornea guttata with anterior polar cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cornea guttata with anterior polar cataract. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
treatment | What are the treatments for Zollinger-Ellison Syndrome ? | A health care provider treats Zollinger-Ellison syndrome with medications to reduce gastric acid secretion and with surgery to remove gastrinomas. A health care provider sometimes uses chemotherapymedications to shrink tumorswhen tumors are too widespread to remove with surgery.
Medications
... |
information | What is (are) Cerebral Atrophy ? | Cerebral atrophy is a common feature of many of the diseases that affect the brain. Atrophy of any tissue means loss of cells. In brain tissue, atrophy describes a loss of neurons and the connections between them. Atrophy can be generalized, which means that all of the brain has shrunk; or it can be focal, affecting on... |
information | What is (are) juvenile hyaline fibromatosis ? | Juvenile hyaline fibromatosis is a disorder that affects the skin, joints, and bones. Individuals with this condition typically begin to develop signs and symptoms within the first few years of life. Juvenile hyaline fibromatosis is characterized by skin bumps that frequently appear on the hands, neck, scalp, ears, and... |
inheritance | Is acral peeling skin syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
information | What is (are) Limb-girdle muscular dystrophy, type 2C ? | Limb-girdle muscular dystrophy type 2C (LGMD2C) is a condition that affects the muscles and is caused by mutations in the gamma-sarcoglycan gene. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weak... |
information | What is (are) 22q13.3 deletion syndrome ? | 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a chromosome abnormality caused by the loss (deletion) of a small piece of chromosome 22. The deletion occurs near the end of the long arm (or q arm) at a location designated as q13.3. The signs and symptoms of this condition vary widely from person ... |
information | What is (are) Heel Injuries and Disorders ? | Heel problems are common and can be painful. Often, they result from too much stress on your heel bone and the tissues that surround it. That stress can come from - Injuries - Bruises that you get walking, running or jumping - Wearing shoes that don't fit or aren't made well - Being overweight The... |
symptoms | What are the symptoms of Hemoglobin E disease ? | What are the signs and symptoms of hemoglobin E disease? Affected individuals can develop mild thalassemia in the first few months of life. While mild splenomegaly and/or anemia can occur, it is generally considered a benign condition. When a person inherits a gene mutation from one of their parents, they are said to b... |
information | What is (are) Menetrier disease ? | Mntrier disease is a condition characterized by inflammation and ulcers of the mucosa (inner lining) of the stomach and by overgrowth of the cells that make up the mucosa. The condition is associated with the following signs: protein loss from the stomach, excessive mucus production, and hypochlorhydria (low levels of ... |
information | What is (are) Ovarian Germ Cell Tumors ? | Key Points
- Ovarian germ cell tumor is a disease in which malignant (cancer) cells form in the germ (egg) cells of the ovary. - Signs of ovarian germ cell tumor are swelling of the abdomen or vaginal bleeding after menopause. - Tests that examine the ovaries, pelvic area, blood, and ovarian... |
treatment | What are the treatments for Crouzonodermoskeletal syndrome ? | These resources address the diagnosis or management of Crouzonodermoskeletal syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Crouzon syndrome with acanthosis nigricans - MedlinePlus Encyclopedia: Acanthosis Nigricans - MedlinePlus Encyclopedia: Craniosynosto... |
information | What is (are) Adult Hodgkin Lymphoma ? | Key Points
- Adult Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. - There are two main types of Hodgkin lymphoma: classical and nodular lymphocyte-predominant. - Age, gender, and Epstein-Barr infection can affect the risk of adult Hodgkin lymphoma. ... |
information | What is (are) Small Cell Lung Cancer ? | Key Points
- Small cell lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. - There are two main types of small cell lung cancer. - Smoking is the major risk factor for small cell lung cancer. - Signs and symptoms of small cell lung cancer include co... |
research | what research (or clinical trials) is being done for Colorectal Cancer ? | Researchers continue to look at new ways to treat, diagnose, and prevent colorectal cancer. Many are testing other types of treatments in clinical trials. Advances in Treatments Studies have found that patients who took the drug Avastin, a targeted chemotherapy drug, with their standard chemotherapy treatment had a lon... |
genetic changes | What are the genetic changes related to retinitis pigmentosa ? | Mutations in more than 60 genes are known to cause nonsyndromic retinitis pigmentosa. More than 20 of these genes are associated with the autosomal dominant form of the disorder. Mutations in the RHO gene are the most common cause of autosomal dominant retinitis pigmentosa, accounting for 20 to 30 percent of all cases.... |
exams and tests | How to diagnose Optic neuritis ? | How is optic neuritis diagnosed? The diagnosis of optic neuritis is usually based on clinical findings and ophthalmologic examination. A careful history, including information about recent illness, fever, or immunizations is helpful. An eye exam should be conducted with assessment of visual acuity, pupil reactions, col... |
information | What is (are) severe congenital neutropenia ? | Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The deficiency of neutrophils, called neutrop... |
symptoms | What are the symptoms of Idiopathic thrombocytopenic purpura ? | What are the signs and symptoms of Idiopathic thrombocytopenic purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic thrombocytopenic purpura. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
prevention | How to prevent Parasites - Scabies ? | When a person is infested with scabies mites the first time, symptoms may not appear for up to two months after being infested. However, an infested person can transmit scabies, even if they do not have symptoms. Scabies usually is passed by direct, prolonged skin-to-skin contact with an infested person. However, a per... |
inheritance | Is nonbullous congenital ichthyosiform erythroderma inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
inheritance | 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... |
frequency | How many people are affected by Waldenstrm macroglobulinemia ? | Waldenstrm macroglobulinemia affects an estimated 3 per million people each year in the United States. Approximately 1,500 new cases of the condition are diagnosed each year in this country, and whites are more commonly affected than African Americans. For unknown reasons, the condition occurs twice as often in men tha... |
exams and tests | How to diagnose Congenital Heart Defects ? | Severe congenital heart defects generally are diagnosed during pregnancy or soon after birth. Less severe defects often aren't diagnosed until children are older.
Minor defects often have no signs or symptoms. Doctors may diagnose them based on results from a physical exam and tests done for another re... |
exams and tests | How to diagnose Medium-chain acyl-coenzyme A dehydrogenase deficiency ? | How is medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) diagnosed? MCADD is now included in many newborn screening programs. If a newborn screening result for MCADD is not in the normal range, additional testing is recommended. A diagnosis of MCADD can be made through a blood test called a plasma acylcarni... |
symptoms | What are the symptoms of KBG syndrome ? | What are the signs and symptoms of KBG syndrome? KBG syndrome is often characterized by distinctive facial features, skeletal abnormalities, short stature, large upper teeth (macrodontia), and developmental delay or intellectual disability. However, the number and severity of symptoms can vary. Characteristic features ... |
treatment | What are the treatments for atelosteogenesis type 2 ? | These resources address the diagnosis or management of atelosteogenesis type 2: - Gene Review: Gene Review: Atelosteogenesis Type 2 - Genetic Testing Registry: Atelosteogenesis type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Te... |
information | What is (are) cardiofaciocutaneous syndrome ? | Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe. Heart defects oc... |
outlook | What is the outlook for Alternating Hemiplegia ? | Children with the benign form of alternating hemiplegia have a good prognosis. Those who experience the more severe form have a poor prognosis because intellectual and mental capacities do not respond to drug therapy, and balance and gait problems continue. Over time, walking unassisted becomes difficult or impossible. |
information | What is (are) dyskeratosis congenita ? | Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern oft... |
research | what research (or clinical trials) is being done for Kidney Disease ? | Many areas of Research Researchers are working at every stage of kidney disease to improve diagnosis and treatment, including - trying to find a better way to identify who is at greatest risk for rapidly progressing kidney disease - trying to find more effective medications to treat kidney disease and its risk facto... |
information | What is (are) Congenital short femur ? | Congenital short femur is a rare type of skeletal dysplasia, a complex group of bone and cartilage disorders that affect the skeleton of a fetus as it develops during pregnancy. Congenital short femur can vary in severity, ranging from hypoplasia (underdevelopment) of the femur to absence of the femur. With modern surg... |
information | What is (are) Kidney Failure: Choosing a Treatment That's Right for You ? | The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. The urine flows from the kidneys... |
information | What is (are) Spondylocostal dysostosis 2 ? | Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. T... |
outlook | What is the outlook for Septo-Optic Dysplasia ? | The prognosis for individuals with SOD varies according to the presence and severity of symptoms. |
treatment | What are the treatments for Chediak-Higashi syndrome ? | These resources address the diagnosis or management of Chediak-Higashi syndrome: - Gene Review: Gene Review: Chediak-Higashi Syndrome - Genetic Testing Registry: Chdiak-Higashi syndrome - Immune Deficiency Foundation: Stem Cell and Gene Therapy - International Patient Organisation for Primary Immunodeficiencies (IP... |
symptoms | What are the symptoms of Pseudoainhum ? | What are the signs and symptoms of Pseudoainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoainhum. 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 ... |
symptoms | What are the symptoms of Marshall-Smith syndrome ? | What are the signs and symptoms of Marshall-Smith syndrome? Marshall-Smith syndrome is characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including wide and prominent forehead, protruding and widely spaced eyes, blue sclerae (t... |
information | What is (are) Retinal Detachment ? | The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain. It provides the sharp, central vision needed for reading, driving, and seeing fine detail. A retinal detachment lifts or pulls the retina from its normal position. It can occur at any age, but it is more common in ... |
symptoms | What are the symptoms of Galloway-Mowat syndrome ? | What are the signs and symptoms of Galloway-Mowat syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Galloway-Mowat 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 Medic... |
symptoms | What are the symptoms of Potocki-Shaffer syndrome ? | What are the signs and symptoms of Potocki-Shaffer syndrome? The signs and symptoms can vary depending on the area and amount deleted. Some individuals with the syndrome have few issues and lead a normal life while others are very severely affected. The following signs and symptoms may be present: Enlarged parietal fo... |
treatment | What are the treatments for Syncope ? | The immediate treatment for an individual who has fainted involves checking first to see if their airway is open and they are breathing. The person should remain lying down for at least 10-15 minutes, preferably in a cool and quiet space. If this isnt possible, have the individual sit forward and lower their head below... |
exams and tests | How to diagnose Down syndrome ? | How is Down syndrome diagnosed? Down syndrome may be suspected and/or diagnosed during pregnancy, or after a child is born. During pregnancy, a woman can opt to have specific tests that may either screen for, or diagnosis, Down syndrome in a fetus. A screening test poses no risks to the fetus and can determine the like... |
information | What is (are) Marden-Walker syndrome ? | Marden-Walker syndrome is a connective tissue disorder characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation (a generalized s... |
outlook | What is the outlook for Inclusion Body Myositis ? | IBM is generally resistant to all therapies and its rate of progression appears to be unaffected by currently available treatments. |
information | What is (are) infantile neuroaxonal dystrophy ? | Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as cra... |
symptoms | What are the symptoms of Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus ? | What are the signs and symptoms of Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus. If the information is available, the tab... |
treatment | What are the treatments for Parasites - Toxocariasis (also known as Roundworm Infection) ? | Visceral toxocariasis can be treated with antiparasitic drugs such as albendazole or mebendazole. Treatment of ocular toxocariasis is more difficult and usually consists of measures to prevent progressive damage to the eye.
More on: Resources For Health Professionals: Treatment |
causes | What causes Tularemia ? | What causes tularemia? Tularemia is caused by the bacterium Francisella tularensis found in animals (especially rodents, rabbits, and hares). Humans can get the disease through: Direct contact, through a break in the skin, with an infected animal or its dead body The bite of an infected tick, horsefly, or mosquito Eati... |
information | What is (are) Diabetic Kidney Problems ? | If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage your kidneys. Your kidneys clean your blood. If they are damaged, waste and fluids build up in your blood instead of leaving your body. Kidney damage from diabetes is called diabetic nephropathy. It begins long ... |
information | What is (are) 48,XXYY syndrome ? | 48,XXYY syndrome is a chromosomal condition that causes medical and behavioral problems in males. 48,XXYY disrupts male sexual development. Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development. A sh... |
genetic changes | What are the genetic changes related to Jackson-Weiss syndrome ? | Mutations in the FGFR2 gene cause Jackson-Weiss syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene ... |
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