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What is (are) Causes of Diabetes ? | Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia.
Diabetes is a disorder of metabolismthe way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and star... | [
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What are the symptoms of Neonatal hemochromatosis ? | What are the signs and symptoms of Neonatal hemochromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal hemochromatosis. 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... | [
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What are the symptoms of Autosomal recessive pseudohypoaldosteronism type 1 ? | What are the signs and symptoms of Autosomal recessive pseudohypoaldosteronism type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive pseudohypoaldosteronism type 1. If the information is available, the table below includes how often the symptom is seen in people ... | [
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What are the treatments for Partington syndrome ? | How might Partington syndrome be treated? The treatment of Partington syndrome is based on the signs and symptoms present in each person. For example, dystonia of the hands and other parts of the body may be treated with a variety of therapies including medications and/or physical therapy. Speech therapy may be recomme... | [
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What are the genetic changes related to Tourette syndrome ? | A variety of genetic and environmental factors likely play a role in causing Tourette syndrome. Most of these factors are unknown, and researchers are studying risk factors before and after birth that may contribute to this complex disorder. Scientists believe that tics may result from changes in brain chemicals (neuro... | [
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How many people are affected by myostatin-related muscle hypertrophy ? | The prevalence of this condition is unknown. | [
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What is (are) Kearns-Sayre syndrome ? | Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. People with Kearns-Sayre syndrome have progressive external ophthalmoplegia, which... | [
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What are the treatments for Nasopharyngeal Cancer ? | Key Points
- There are different types of treatment for patients with nasopharyngeal cancer. - Three types of standard treatment are used: - Radiation therapy - Chemotherapy - Surgery - New types of treatment are being tested in clinical trials. - Patients may want ... | [
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What is (are) hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? | Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. HANAC syndrome is characterized by angiopathy, which is a disord... | [
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What is (are) Diabetes, Heart Disease, and Stroke ? | Prediabetes is a condition in which blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. Prediabetes is also called impaired fasting glucose or impaired glucose tolerance. Many people with prediabetes develop type 2 diabetes within 10 years. In addition, they are at risk for hear... | [
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Is Pyruvate carboxylase deficiency inherited ? | How is pyruvate carboxylase deficiency inherited? Pyruvate carboxylase deficiency is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell (usually one inherited from each parent) must have a mutation for an individual to be affected. Individuals who carry one ... | [
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How many people are affected by Prostate Cancer ? | Prostate cancer is one of the most common types of cancer among American men. It is a slow-growing disease that mostly affects older men. In fact, more than 60 percent of all prostate cancers are found in men over the age of 65. The disease rarely occurs in men younger than 40 years of age. | [
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What are the symptoms of Autosomal dominant neuronal ceroid lipofuscinosis 4B ? | What are the signs and symptoms of Autosomal dominant neuronal ceroid lipofuscinosis 4B? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant neuronal ceroid lipofuscinosis 4B. If the information is available, the table below includes how often the symptom is seen in peo... | [
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What causes Laron syndrome ? | What causes Laron syndrome? Laron syndrome is caused by changes (mutations) in the GHR gene. This gene encodes growth hormone receptor, which is a protein found on the outer membrane of cells throughout the body. Growth hormone receptor is designed to recognize and bind growth hormone, which triggers cellular growth an... | [
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How many people are affected by Celiac Disease ? | As many as one in 141 Americans has celiac disease, although most remain undiagnosed.2 Celiac disease affects children and adults in all parts of the world and is more common in Caucasians and females.
Celiac disease is also more common among people with certain genetic diseases, including Down syndrom... | [
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what research (or clinical trials) is being done for Sjgren's Syndrome ? | The goals of research on disorders such as Sjgren's syndrome focus on increasing knowledge and understanding of the disorder, improving diagnostic techniques, testing interventions, and finding ways to treat, prevent, and cure the disease. | [
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What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type A ? | What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type A? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type A. If the information is available, the table below includes how ofte... | [
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Is CAV3-related distal myopathy inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with CAV3-related distal myopathy or another caveolinopathy. Rare cases result from new mutations in the gene and occu... | [
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Do you have information about Health Facilities | Summary : Health facilities are places that provide health care. They include hospitals, clinics, outpatient care centers, and specialized care centers, such as birthing centers and psychiatric care centers. When you choose a health facility, you might want to consider - How close it is to where you live or wo... | [
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What is (are) Hypoplastic right heart syndrome ? | Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial... | [
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How to diagnose Klippel Feil syndrome ? | How is Klippel Feil syndrome diagnosed? Klippel Feil syndrome (KFS) is typically diagnosed when X-rays or other imaging techniques show fusion of cervical vertebrae. X-rays of the entire spine should be performed to detect other spinal abnormalities, and additional imaging studies may be needed to assess the extent of ... | [
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What are the symptoms of Mental retardation X-linked syndromic 11 ? | What are the signs and symptoms of Mental retardation X-linked syndromic 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked syndromic 11. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | [
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Is laryngo-onycho-cutaneous 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. | [
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What is the outlook for Friedreich's Ataxia ? | Generally, within 15 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease, individuals may become completely incapacitated. Friedreich's ataxia can shorten life expectancy; heart disease is the most common cause of death. Many individuals wit... | [
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What causes Gout ? | Most people with gout have too much uric acid in their blood, a condition called hyperuricemia. Uric acid is a substance that results from the breakdown of purines, which are part of all human tissue and are found in many foods, especially those high in protein. Needle-like crystals of uric acid can build up in the con... | [
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What is (are) Elbow Injuries and Disorders ? | Your elbow joint is made up of bone, cartilage, ligaments and fluid. Muscles and tendons help the elbow joint move. When any of these structures is hurt or diseased, you have elbow problems. Many things can make your elbow hurt. A common cause is tendinitis, an inflammation or injury to the tendons that attach musc... | [
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What is (are) Spinal Cord Diseases ? | Your spinal cord is a bundle of nerves that runs down the middle of your back. It carries signals back and forth between your body and your brain. It is protected by your vertebrae, which are the bone disks that make up your spine. If you have an accident that damages the vertebrae or other parts of the spine, this can... | [
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What causes Cutaneous mastocytosis ? | What causes cutaneous mastocytosis? Most cases of cutaneous mastocytosis are caused by changes (mutations) in the KIT gene. This gene encodes a protein that helps control many important cellular processes such as cell growth and division; survival; and movement. This protein is also important for the development of cer... | [
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What are the symptoms of Fructosuria ? | What are the signs and symptoms of Fructosuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Fructosuria. 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... | [
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What causes Complex regional pain syndrome ? | What causes complex regional pain syndrome? The underlying cause of complex regional pain syndrome (CRPS) is not well understood. In most cases it occurs after an illness or injury that did not directly damage the nerves in the affected area (Type I). In some cases, it occurs after a specific nerve injury (Type II). Th... | [
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what research (or clinical trials) is being done for Salivary Gland Cancer ? | New types of treatment are being tested in clinical trials.
This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiosensitizers Radiose... | [
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What are the symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia ? | What are the signs and symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency without anhidrotic ectodermal dysplasia. If the information is available, the table below includes how often the symptom is see... | [
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What are the symptoms of Microcystic adnexal carcinoma ? | What are the symptoms of microcystic adnexal carcinoma? Microcystic adnexal carcinoma appears as a smooth bump or patch that is slightly raised from the surrounding skin. It may be flesh-colored or yellowish, and it increases in size over time. A microcystic adnexal carcinoma may grow into nerves nearby, which can ca... | [
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What is (are) Steatocystoma multiplex ? | Steatocystoma multiplex is a condition characterized by numerous skin cysts that tend to develop during puberty. Cysts most often develop on the chest, upper arms and face, but may develop all over the body in some cases. The cysts may become inflamed and cause scarring when they heal. The condition is thought to be ca... | [
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Is hyperlysinemia 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. | [
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What are the symptoms of Nephropathic cystinosis ? | What are the signs and symptoms of Nephropathic cystinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephropathic cystinosis. 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... | [
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What causes HELLP syndrome ? | What causes HELLP syndrome? Doctors are still unclear on what exactly causes HELLP syndrome. Although it is more common in women who have preeclampsia or pregnancy induced hypertension (high blood pressure), there are still a number of women who get it without previously showing signs of preeclampsia. The following ris... | [
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What is (are) High Blood Pressure ? | Only a small amount of the salt that we eat comes from the salt shaker, and only small amounts occur naturally in food. Most of the salt that we eat comes from processed foods -- for example, canned or processed meat, baked goods, and certain cereals, and foods with soy sauce, seasoned salts, monosodium glutamate (MSG)... | [
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Do you have information about MRI Scans | Summary : Magnetic resonance imaging (MRI) uses a large magnet and radio waves to look at organs and structures inside your body. Health care professionals use MRI scans to diagnose a variety of conditions, from torn ligaments to tumors. MRIs are very useful for examining the brain and spinal cord. During the scan,... | [
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What are the genetic changes related to alpha thalassemia X-linked intellectual disability syndrome ? | Alpha thalassemia X-linked intellectual disability syndrome results from mutations in the ATRX gene. This gene provides instructions for making a protein that plays an essential role in normal development. Although the exact function of the ATRX protein is unknown, studies suggest that it helps regulate the activity (e... | [
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How to diagnose Ewing Sarcoma ? | Tests that examine the bone and soft tissue are used to diagnose and stage Ewing sarcoma.
Procedures that make pictures of the bones and soft tissues and nearby areas help diagnose Ewing sarcoma and show how far the cancer has spread. The process used to find out if cancer cells have spread within a... | [
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What to do for What I need to know about Preparing for Pregnancy if I Have Diabetes ? | - If you have diabetes, the best time to control your blood glucose, also called blood sugar, is before you get pregnant. High blood glucose levels can be harmful to your baby during the first weeks of pregnancyeven before you know you are pregnant. - Keeping your blood glucose as close to normal as possible before an... | [
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What is (are) SADDAN ? | SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities. All people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the le... | [
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How to diagnose Pleurisy and Other Pleural Disorders ? | Your doctor will diagnose pleurisy or another pleural disorder based on your medical history, a physical exam, and test results.
Your doctor will want to rule out other causes of your symptoms. He or she also will want to find the underlying cause of the pleurisy or other pleural disorder so it can be ... | [
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Is glutamate formiminotransferase deficiency 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. | [
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How to diagnose Childhood Central Nervous System Embryonal Tumors ? | Tests that examine the brain and spinal cord are used to detect (find) childhood CNS embryonal tumors or pineoblastomas. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or... | [
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What causes Quitting Smoking for Older Adults ? | Yes. Smoking is the leading cause of cancer in the United States, and it increases the risk of many types of cancer, including - lung cancer - throat cancer - mouth cancer - nasal cavity cancer (cancer in the airways of the nose) - esophageal cancer (cancer of the esophagus) - stomach cancer - pancreatic canc... | [
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What are the symptoms of 8q12 microduplication syndrome ? | What are the signs and symptoms of 8q12 microduplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8q12 microduplication 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 Med... | [
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What are the treatments for isolated lissencephaly sequence ? | These resources address the diagnosis or management of isolated lissencephaly sequence: - Gene Review: Gene Review: DCX-Related Disorders - Gene Review: Gene Review: LIS1-Associated Lissencephaly/Subcortical Band Heterotopia - Gene Review: Gene Review: Tubulinopathies Overview - Genetic Testing Registry: Lissenceph... | [
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What are the genetic changes related to neuropathy, ataxia, and retinitis pigmentosa ? | NARP results from mutations in the MT-ATP6 gene. This gene is contained in mitochondrial DNA, also known as mtDNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small am... | [
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What are the stages of Vulvar Cancer ? | Key Points
- After vulvar cancer has been diagnosed, tests are done to find out if cancer cells have spread within the vulva or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - In vulvar... | [
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What is (are) Ataxia Telangiectasia ? | Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include - Ataxia - trouble coordinating movements - Poor balance - Slurred speech - Tiny, red spider veins, called... | [
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Is Hermansky-Pudlak 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. | [
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What are the treatments for Neurofibromatosis type 1 ? | How might neurofibromatosis type 1 be treated? The treatment of neurofibromatosis type 1 (NF1) is based on the signs and symptoms present in each person. There is currently no way to prevent or stop the growth of the tumors associated with NF1. Neurofibromas located on or just below the skin that are disfiguring or irr... | [
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What are the treatments for familial hyperaldosteronism ? | These resources address the diagnosis or management of familial hyperaldosteronism: - Genetic Testing Registry: Familial hyperaldosteronism type 1 - Genetic Testing Registry: Familial hyperaldosteronism type 3 - Hormone Health Network: A Patient's Guide: Primary Hyperaldosteronism - International Registry for Gluco... | [
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What is (are) MYH-associated polyposis ? | MYH-associated polyposis is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer. This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessive familial adenomatous polyposis because it is... | [
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What are the genetic changes related to factor X deficiency ? | The inherited form of factor X deficiency, known as congenital factor X deficiency, is caused by mutations in the F10 gene, which provides instructions for making a protein called coagulation factor X. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood... | [
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What are the genetic changes related to Frasier syndrome ? | Mutations in the WT1 gene cause Frasier syndrome. The WT1 gene provides instructions for making a protein that regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor. The WT1 protein plays a role in the devel... | [
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What is (are) Greig cephalopolysyndactyly syndrome ? | Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe ... | [
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What is (are) Skin Cancer ? | Key Points
- Skin cancer is a disease in which malignant (cancer) cells form in the tissues of the skin. - There are different types of cancer that start in the skin. - Skin color and being exposed to sunlight can increase the risk of nonmelanoma skin cancer and actinic keratosis. - Nonme... | [
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What are the treatments for Glass-Chapman-Hockley syndrome ? | How might Glass-Chapman-Hockley syndrome be treated? Surgery is typically the treatment for craniosynostosis and is based on the person's specific signs and symptoms. The goal is to increase the space in the front (anterior) part of the skull. The operation is usually performed when the person is between 9 to 12 months... | [
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Is episodic ataxia inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no histor... | [
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What are the genetic changes related to trisomy 18 ? | Most cases of trisomy 18 result from having three copies of chromosome 18 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 18. Approximately 5 percent of people with trisomy 18 have an extra co... | [
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What are the treatments for Mitochondrial genetic disorders ? | How might mitochondrial genetic disorders be treated? Treatment for mitochondrial genetic disorders varies significantly based on the specific type of condition and the signs and symptoms present in each person. The primary aim of treatment is to alleviate symptoms and slow the progression of the condition. For example... | [
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Is Light chain deposition disease inherited ? | Is light chain deposition disease a genetic/inheritable disease? Currently, we are not aware of inherited genes or genetic factors that would increase a persons risk for developing light chain deposition disease. You can read more about risk factors for multiple myeloma and monoclonal gammopathy of undetermined signifi... | [
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What are the symptoms of Carney triad ? | What are the signs and symptoms of Carney triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney triad. 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 ... | [
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What is (are) Transient neonatal diabetes mellitus ? | Transient neonatal diabetes mellitus (TNDB) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood. Affected individuals have slow growth before birth followed... | [
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what research (or clinical trials) is being done for Laryngeal Cancer ? | New types of treatment are being tested in clinical trials.
This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI Web site. Chemoprevention Chemopr... | [
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What are the treatments for Vasculitis Syndromes of the Central and Peripheral Nervous Systems ? | Treatment for a vasculitis syndrome depends upon the specific diagnosis, which can be difficult, as some diseases have similar symptoms of vasculitis. Most of the syndromes respond well to steroid drugs, such as prednisolone. Some may also require treatment with an immunosuppressive drug, such as cyclophosphamide. Aneu... | [
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How to prevent Osteoporosis ? | Preventing falls is a special concern for men and women with osteoporosis. Falls can increase the likelihood of fracturing a bone in the hip, wrist, spine, or other part of the skeleton. In addition to the environmental factors listed below, falls can also be caused by impaired vision or balance, chronic diseases that ... | [
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What is (are) Spondylocostal dysostosis 1 ? | 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... | [
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What is (are) Asperger syndrome ? | Asperger syndrome is a disorder on the autism spectrum, which is a group of conditions characterized by impaired communication and social interaction. Asperger syndrome is on the mild, or "high-functioning," end of the autism spectrum. Many affected individuals learn to compensate for their differences and live indepen... | [
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How many people are affected by Cornelia de Lange syndrome ? | Although the exact incidence is unknown, Cornelia de Lange syndrome likely affects 1 in 10,000 to 30,000 newborns. The condition is probably underdiagnosed because affected individuals with mild or uncommon features may never be recognized as having Cornelia de Lange syndrome. | [
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What to do for Ectopic Kidney ? | #NAME? | [
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How to diagnose Overweight and Obesity ? | The most common way to find out whether you're overweight or obese is to figure out your body mass index (BMI). BMI is an estimate of body fat, and it's a good gauge of your risk for diseases that occur with more body fat.
BMI is calculated from your height and weight. You can use the chart below or th... | [
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What are the treatments for intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ? | These resources address the diagnosis or management of IMAGe syndrome: - Gene Review: Gene Review: IMAGe Syndrome - Genetic Testing Registry: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies - National Institutes of Health Clinical Center: Managing Adrenal I... | [
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What are the treatments for septo-optic dysplasia ? | These resources address the diagnosis or management of septo-optic dysplasia: - Genetic Testing Registry: Septo-optic dysplasia sequence - MedlinePlus Encyclopedia: Growth Hormone Deficiency - MedlinePlus Encyclopedia: Hypopituitarism These resources from MedlinePlus offer information about the diagnosis and manag... | [
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What is (are) TEMPI syndrome ? | TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: Telangiectasias, Erythrocytosis with elevated erythropoietin level, Monoclonal gammopathy, Perinephric-fluid collections (fluid around the kidney), and Intrapulmonary shunting (when a region of the lu... | [
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How to diagnose Esthesioneuroblastoma ? | How is esthesioneuroblastoma diagnosed? Diagnosis is typically obtained through clinical examination, biopsy, and MRI and CT scans. | [
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What is (are) Hennekam syndrome ? | Hennekam syndrome is a rare condition that affects the lymphatic system. Signs and symptoms of the condition are generally noticeable at birth and vary significantly from person to person, even within the same family. Affected people generally experience lymphangiectasia (lymphatic vessels that are abnormally expanded)... | [
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What is (are) Ataxia ? | Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it... | [
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How many people are affected by retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? | RAMSVPS is a rare disorder. Only a small number of affected individuals and families, all from Saudi Arabia, have been described in the medical literature. | [
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How many people are affected by common variable immune deficiency ? | CVID is estimated to affect 1 in 25,000 to 1 in 50,000 people worldwide, although the prevalence can vary across different populations. | [
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Who is at risk for Childhood Rhabdomyosarcoma? ? | Certain genetic conditions increase the risk of childhood rhabdomyosarcoma. Anything that increases the risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if you th... | [
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What are the symptoms of Stuve-Wiedemann syndrome ? | What are the signs and symptoms of Stuve-Wiedemann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stuve-Wiedemann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... | [
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What is (are) Turner Syndrome ? | Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don't work properly. Other physical features typical of Turner syndrome are - Short, "webbed" neck with folds of skin from tops of shoulder... | [
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What are the treatments for Schwartz Jampel syndrome type 1 ? | How might Schwartz Jampel syndrome type 1 be treated? Treatment of Schwartz Jampel syndrome type 1 (SJS1) aims to reduce stiffness and cramping of muscles. This might include nonpharmacologic modalities such as massage, warming of muscles, and gradual strengthening exercises. Medications that might be utilized include ... | [
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What is (are) Adult Primary Liver Cancer ? | Key Points
- Adult primary liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. - There are two types of adult primary liver cancer. - Having hepatitis or cirrhosis can affect the risk of adult primary liver cancer. - Signs and symptoms of adult pri... | [
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What are the treatments for palmoplantar keratoderma with deafness ? | These resources address the diagnosis or management of palmoplantar keratoderma with deafness: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratodermas - Genetic Testing Registry: Keratoderma palmoplantar deafness These resources from MedlinePlus offer information about the diagnosis and manage... | [
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What are the symptoms of Scurvy ? | What are the signs and symptoms of Scurvy? The Human Phenotype Ontology provides the following list of signs and symptoms for Scurvy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the defin... | [
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How many people are affected by KBG syndrome ? | KBG syndrome is a rare disorder that has been reported in around 60 individuals. For unknown reasons, males are affected more often than females. Doctors think the disorder is underdiagnosed because the signs and symptoms can be mild and may be attributed to other disorders. | [
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What is (are) 2q37 deletion syndrome ? | 2q37 deletion syndrome is a rare chromosome condition that can affect many parts of the body. Approximately 100 cases have been reported worldwide. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteris... | [
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what research (or clinical trials) is being done for Tropical Spastic Paraparesis ? | The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to HAM/TSP in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. Much of this research focus... | [
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What are the treatments for spondyloenchondrodysplasia with immune dysregulation ? | These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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What are the treatments for Hypoaldosteronism ? | How might hypoaldosteronism be treated? Treatment for hypoaldosteronism depends on the underlying condition. Affected individuals are often advised to follow a low-potassium diet with liberal sodium intake. People with hypoaldosteronism should typically avoid ACE inhibitors and potassium-sparing diuretics. Individuals ... | [
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Is MPV17-related hepatocerebral mitochondrial DNA depletion 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. | [
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Who is at risk for Low Vision? ? | People age 60 and older, as well as African Americans and Hispanics over age 45, are at higher risk. African Americans and Hispanics are at higher risk for low vision because they are at higher risk for developing diabetes and diabetic retinopathy, and African Americans are at a higher risk for developing glaucoma. | [
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What is (are) Stevens-Johnson syndrome/toxic epidermal necrolysis ? | Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrome repr... | [
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What is (are) Hereditary sensory and autonomic neuropathy ? | Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers. Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatt... | [
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What are the stages of Hairy Cell Leukemia ? | Key Points
- There is no standard staging system for hairy cell leukemia.
There is no standard staging system for hairy cell leukemia.
Staging is the process used to find out how far the cancer has spread. Groups are used in p... | [
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