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Measles is an infectious disease caused by a virus. It spreads easily from person to person. It causes a blotchy red rash. The rash often starts on the head and moves down the body. Other symptoms include - Fever - Cough - Runny nose - Conjunctivitis (pink eye) - Feeling achy and run down - Tiny wh...
Adermatoglyphia appears to be a rare condition. Only a few affected families have been identified worldwide.
Glutathione synthetase deficiency is type of organic acidemia that affects the production glutathione. Glutathione helps prevent cell damage, build DNA and proteins, and process medications and cancer-causing compounds. People can have mild, moderate, or severe disease. Mild disease may cause hemolytic anemia and 5-oxo...
These resources address the diagnosis or management of juvenile primary lateral sclerosis: - Gene Review: Gene Review: ALS2-Related Disorders - Genetic Testing Registry: Juvenile primary lateral sclerosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditi...
How might von Hippel-Lindau (VHL) disease be treated? Treatment for Von Hippel-Lindau (VHL) disease depends on the location and size of tumors. In general, the goal is to treat growths when they cause symptoms, but are still small so they don't cause permanent damage. Treatment usually involves surgical removal of tumo...
The leading risk factor for shingles is a history of having had chickenpox. One out of every five people who have had chickenpox is likely to get shingles. Another risk factor is aging. As we age, our natural immunity gradually loses its ability to protect against infection. The shingles virus can take advantage of thi...
Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is often discovered as an incidental finding (such as through a barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childre...
What causes hemorrhagic shock and encephalopathy syndrome? The cause of hemorrhagic shock and encephalopathy syndrome is unknown. Some researchers believe that this condition is caused by a complex combination of genetic and environmental factors. Researchers have proposed various factors that may contribute to the dev...
Crigler Najjar syndrome, type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build...
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...
These resources address the diagnosis or management of acral peeling skin syndrome: - Birmingham Children's Hospital, National Health Service (UK) - Genetic Testing Registry: Peeling skin syndrome, acral type These resources from MedlinePlus offer information about the diagnosis and management of various health con...
Summary : The field of ethics studies principles of right and wrong. There is hardly an area in medicine that doesn't have an ethical aspect. For example, there are ethical issues relating to - End of life care: Should a patient receive nutrition? What about advance directives and resuscitation orders? - Abor...
These resources address the diagnosis or management of cerebral cavernous malformation: - Angioma Alliance: Imaging and Diagnostics - Gene Review: Gene Review: Familial Cerebral Cavernous Malformation - Genetic Testing Registry: Cerebral cavernous malformation - Genetic Testing Registry: Cerebral cavernous malforma...
Hereditary spherocytosis occurs in 1 in 2,000 individuals of Northern European ancestry. This condition is the most common cause of inherited anemia in that population. The prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown, but it is much less common.
A cerebral aneurysm is a weak or thin spot on a blood vessel in the brain that balloons out and fills with blood. An aneurysm can press on a nerve or surrounding tissue, and also leak or burst, which lets blood spill into surrounding tissues (called a hemorrhage). Cerebral aneurysms can occur at any age, although they ...
HAIR-AN syndrome is a condition that affects women. It is characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans. Insulin resistance is a condition in which the body produces insulin but does not use it properly. This causes the pancreas to produce more insulin. High levels of insulin stimulate...
More information on COPD is available at: What is COPD? and at the Learn More, Breathe Better Campaign For information on quitting smoking, visit http://www.surgeongeneral.gov/tobacco/ or Smokefree.gov. For information on the H1N1 flu and COPD, go to The Centers for Disease Control and Prevention.
Recent discoveries show that most individuals (approximately 90 percent) with Alexander disease have a mutation in the gene that makes glial fibrillary acidic protein (GFAP). GFAP is a normal component of the brain, but it is unclear how the mutations in this genecauses the disease. In most cases mutations occur sponta...
Primary orthostatic tremor is a movement disorder characterized by rhythmic muscle contractions that occur in the legs and trunk immediately after standing. It may be perceived more as an unsteadiness than an actual tremor. The tremor may disappear or improve when a person is sitting or walking. Over time, the tremors ...
What treatment is available for sarcoidosis? The treatment of sarcoidosis depends on : the symptoms present the severity of the symptoms whether any vital organs (e.g., your lungs, eyes, heart, or brain) are affected how the organ is affected. Some organs must be treated, regardless of your symptoms. Others may not ne...
What are the signs and symptoms of Reticuloendotheliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reticuloendotheliosis. 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...
Muir-Torre syndrome (MTS) is a form of Lynch syndrome and is characterized by sebaceous (oil gland) skin tumors in association with internal cancers. The most common internal site involved is the gastrointestinal tract (with almost half of affected people having colorectal cancer), followed by the genitourinary tract. ...
The prevalence of WAGR syndrome ranges from 1 in 500,000 to one million individuals. It is estimated that one-third of people with aniridia actually have WAGR syndrome. Approximately 7 in 1,000 cases of Wilms tumor can be attributed to WAGR syndrome.
Your kidneys are two bean-shaped organs, each about the size of a fist. They are located just below your rib cage, one on each side of your spine. Every day, your two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine. Urine flows from your kidneys to your bladder through tubes call...
Multiple mitochondrial dysfunctions syndrome is a rare condition; its prevalence is unknown. It is one of several conditions classified as mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide.
Medullary sponge kidney affects about one person per 5,000 people in the United States. Researchers have reported that 12 to 20 percent of people who develop calcium-based kidney stones have medullary sponge kidney1.
These resources address the diagnosis or management of L1 syndrome: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: L1 Syndrome - Genetic Testing Registry: Corpus callosum, partial agenesis of, X-linked - Genetic Testing Registry: L1 Syndrome - Genetic Testing Registr...
What are the signs and symptoms of Kowarski syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kowarski 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...
A bruise is a mark on your skin caused by blood trapped under the surface. It happens when an injury crushes small blood vessels but does not break the skin. Those vessels break open and leak blood under the skin. Bruises are often painful and swollen. You can get skin, muscle and bone bruises. Bone bruises are the...
Familial prostate cancer is a cluster of prostate cancer within a family. Most cases of prostate cancer occur sporadically in people with no family history of the condition. However, approximately 5% to 10% of prostate cancer cases are believed to be primarily caused by a genetic predisposition to the condition. In man...
Perry syndrome is a progressive brain disease that is characterized by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation). These signs and symptoms typically appear in a person's forties or fifties. Parkinson...
These resources address the diagnosis or management of autosomal recessive congenital stationary night blindness: - Genetic Testing Registry: Congenital stationary night blindness, type 1B - Genetic Testing Registry: Congenital stationary night blindness, type 1C - Genetic Testing Registry: Congenital stationary nig...
How is Townes-Brocks syndrome diagnosed? Townes-Brocks syndrome is diagnosed clinically based on the presence of the following: Imperforate anus Abnormally shaped ears Typical thumb malformations (preaxial polydactyly, triphalangeal thumbs which have three bones in them, much like the fingers, instead of the normal two...
Children with kidney stones may have pain while urinating, see blood in the urine, or feel a sharp pain in the back or lower abdomen. The pain may last for a short or long time. Children may experience nausea and vomiting with the pain. However, children who have small stones that pass easily through the urinary tract ...
How might a pineocytoma be treated? Because pineocytomas are quite rare, there are no consensus guidelines on the best treatment for these tumors. However, surgery to remove the entire tumor is considered the standard treatment. Because these tumors are located deep in the brain, it is important that the risks of surge...
What causes trisomy 17 mosaicism? Trisomy 17 mosaicism can arise due to errors in cell division that occur after conception. For example, at the time of conception, the fetus may actually have trisomy 17 in all of its cells; however, during cell division, some of the cells lose the extra chromosome 17. Alternatively, t...
Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw a...
These resources address the diagnosis or management of Koolen-de Vries syndrome: - Gene Review: Gene Review: KANSL1-Related Intellectual Disability Syndrome - Genetic Testing Registry: Koolen-de Vries syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health co...
Juvenile primary lateral sclerosis is a rare disorder, with few reported cases.
Summary : You may have heard of anabolic steroids, which can have harmful effects. But there's another type of steroid - sometimes called a corticosteroid - that treats a variety of problems. These steroids are similar to hormones that your adrenal glands make to fight stress associated with illnesses and injuries. The...
You cant prevent asthma. However, you can take steps to control the disease and prevent its symptoms. For example: Learn about your asthma and ways to control it. Follow your written asthma action plan. (For a sample plan, go to the National Heart, Lung, and Blood Institute's "Asthma A...
Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20 years. It is the result of abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions. The mitochondrial diseases correlat...
What causes Bell's palsy?
Frequently Asked Questions (FAQs) Fact Sheets
Eisenmenger syndrome is a rare progressive heart condition caused by a structural error in the heart, typically a "hole in the heart" (ventricular septal defect) present at birth (congenital heart defect). This causes abnormal blood flow in the heart, resulting in high pressure within the pulmonary artery, the main blo...
Both men and women can get IC/PBS, though twice as many women are affected as men. It can occur at any age, but it is most common in middle age. People with IC/PBS rarely have bladder pain all the time. The pain usually comes and goes as the bladder fills and then empties. The pain may go away for week...
What treatment is available for rickets? The treatment for rickets depends on the cause of the condition. If rickets is caused by a lack of vitamin D in the diet, then it is usually treated with carefully adjusted levels of vitamin D and calcium. The child's condition may improve within a few weeks of treatment. If ric...
Mutations in the AHCY, GNMT, and MAT1A genes cause hypermethioninemia. Inherited hypermethioninemia that is not associated with other metabolic disorders can be caused by shortages (deficiencies) in the enzymes that break down methionine. These enzymes are produced from the MAT1A, GNMT and AHCY genes. The reactions in...
The prevalence of congenital sucrase-isomaltase deficiency is estimated to be 1 in 5,000 people of European descent. This condition is much more prevalent in the native populations of Greenland, Alaska, and Canada, where as many as 1 in 20 people may be affected.
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.
Symptoms depend on the type of neuropathy and which nerves are affected. Some people with nerve damage have no symptoms at all. For others, the first symptom is often numbness, tingling, or pain in the feet. Symptoms are often minor at first, and because most nerve damage occurs over several years, mild cases may go un...
Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofi...
These resources address the diagnosis or management of MPV17-related hepatocerebral mitochondrial DNA depletion syndrome: - Gene Review: Gene Review: MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome - Genetic Testing Registry: Navajo neurohepatopathy - The United Mitochondrial Disease Foundation: Tr...
The four major types of epidermolysis bullosa simplex can result from mutations in either the KRT5 or KRT14 gene. These genes provide instructions for making proteins called keratin 5 and keratin 14. These tough, fibrous proteins work together to provide strength and resiliency to the outer layer of the skin (the epide...
Gangrene is the death of tissues in your body. It happens when a part of your body loses its blood supply. Gangrene can happen on the surface of the body, such as on the skin, or inside the body, in muscles or organs. Causes include - Serious injuries - Problems with blood circulation, such as atherosclerosis ...
Summary : Birth weight is the first weight of your baby, taken just after he or she is born. A low birth weight is less than 5.5 pounds. A high birth weight is more than 8.8 pounds. A low birth weight baby can be born too small, too early (premature), or both. This can happen for many different reasons. They include...
FIBGC is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of an altered SLC20A2 or PDGFRB gene in each cell is sufficient to cause the disorder. This condition appears to follow an autosomal dominant pattern of inheritance when the genetic cause is not known. In most cases, an a...
Not always. Some warning signs, such as sleep problems, falls, mood swings, anxiety, depression, and memory problems -- can also be signs of other health conditions. As a result, doctors and family members often do not realize that an older person has a drug problem, and people may not get the help they need.
Most cases of antiphospholipid syndrome are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in d...
Wilson disease is a rare disorder that affects approximately 1 in 30,000 individuals.
Prothrombin deficiency is a bleeding disorder that slows the blood clotting process. People with this condition often experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases of prothrombin deficiency, heavy bleeding occurs after minor trauma or even in the absence of injury...
The incidence of methemoglobinemia, beta-globin type is unknown.
Some diseases affect the salivary glands. Sjgren's syndrome and diabetes can cause dry mouth. Injury to the head or neck can damage the nerves that tell salivary glands to make saliva.
Coronary heart disease, or CHD, is the most common underlying cause of a heart attack. Coronary arteries are the blood vessels that bring blood and oxygen to the heart muscle. Most heart attacks are caused by a blood clot that blocks one of the coronary arteries. When blood cannot reach part of your heart, that area st...
- Medullary sponge kidney, also known as Cacchi-Ricci disease, is a birth defect where changes occur in the tubules, or tiny tubes, inside a fetus kidneys. - Symptoms of medullary sponge kidney do not usually appear until the teenage years or the 20s. Medullary sponge kidney can affect one or both kidneys. - Complica...
Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals oft...
Jaundice causes your skin and the whites of your eyes to turn yellow. Too much bilirubin causes jaundice. Bilirubin is a yellow chemical in hemoglobin, the substance that carries oxygen in your red blood cells. As red blood cells break down, your body builds new cells to replace them. The old ones are processed by the ...
What are the signs and symptoms of Deafness, autosomal recessive 51? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal recessive 51. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the...
Summary : If you are like many Americans, you drink alcohol at least occasionally. For many people, moderate drinking is probably safe. It may even have health benefits, including reducing your risk of certain heart problems. For most women and for most people over 65, moderate drinking is no more than three drinks a d...
Isolated Duane retraction syndrome usually occurs in people with no history of the disorder in their family. These cases are described as simplex, and their genetic cause is unknown. Less commonly, isolated Duane retraction syndrome can run in families. Familial cases most often have an autosomal dominant pattern of i...
How might limb-girdle muscular dystrophy be treated? Unfortunately, no definitive treatments or effective medications for the limb-girdle muscular dystrophies (LGMDs) currently exist. Management depends on each individual and the specific type of LGMD that the individual has. However, a general approach to managing LGM...
Clinical Diagnosis Health care providers should consider Cyclospora as a potential cause of prolonged diarrheal illness, particularly in patients with a history of recent travel to Cyclospora-endemic areas. Testing for Cyclospora is not routinely done in most U.S. laboratories, even when stool is tested for parasi...
These resources address the diagnosis or management of RAPADILINO syndrome: - Genetic Testing Registry: Rapadilino syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic ...
Symptoms of a UTI vary by age, gender, and whether a catheter is present. Among young women, UTI symptoms typically include a frequent and intense urge to urinate and a painful, burning feeling in the bladder or urethra during urination. The amount of urine may be very small. Older women and men are more likely to be t...
Disseminated intravascular coagulation (DIC) is the result of an underlying disease or condition. People who have one or more of the following conditions are most likely to develop DIC: Sepsis (an infection in the bloodstream) Surgery and trauma Cancer ...
Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5. The signs and symptoms of HSAN5 appear early,...
Your small intestine does most of the digesting of the foods you eat. If you have a malabsorption syndrome, your small intestine cannot absorb nutrients from foods. Causes of malabsorption syndromes include - Celiac disease - Lactose intolerance - Short bowel syndrome. This happens after surgery to remov...
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.
A healthy diet is important in all stages of cirrhosis because malnutrition is common in people with this disease. Malnutrition is a condition that occurs when the body does not get enough nutrients. Cirrhosis may lead to malnutrition because it can cause - people to eat less because of symptoms such a...
In the United States, most people with sickle cell disease (SCD) are of African ancestry or identify themselves as black. About 1 in 13 African American babies is born with sickle cell trait. About 1 in every 365 black children is born with sickle cell disease. There a...
What causes congenital radio-ulnar synostosis? Congenital radio-ulnar synostosis is caused by abnormal development of the forearm bones in the fetal period, although the underlying cause of the developmental abnormality is not always known. The condition may be isolated (occur without other abnormalities) or it may be ...
- Lupus nephritis is kidney inflammation caused by systemic lupus erythematosus (SLE or lupus). - The symptoms of lupus nephritis may include high blood pressure, foamy urine, and edema. - Lupus nephritis is diagnosed through urine and blood tests and a kidney biopsy. - Lupus nephritis is treated with medications th...
Like other parts of the body, bones can get infected. The infections are usually bacterial, but can also be fungal. They may spread to the bone from nearby skin or muscles, or from another part of the body through the bloodstream. People who are at risk for bone infections include those with diabetes, poor circulation,...
The prevalence of lymphedema-distichiasis syndrome is unknown. Because the extra eyelashes can be overlooked during a medical examination, researchers believe that some people with this condition may be misdiagnosed as having lymphedema only.
BRIC is a rare disorder. Although the prevalence is unknown, this condition is less common than the related disorder PFIC, which affects approximately 1 in 50,000 to 100,000 people worldwide.
These resources address the diagnosis or management of CHARGE syndrome: - Gene Review: Gene Review: CHARGE Syndrome - Genetic Testing Registry: CHARGE association - MedlinePlus Encyclopedia: Choanal atresia - MedlinePlus Encyclopedia: Coloboma - MedlinePlus Encyclopedia: Facial Paralysis These resources from Med...
Trichorhinophalangeal syndrome type 1 (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by a distinctive facial appearance that includes sparse scalp hair; a rounded nose; a long, flat area between the nose and the upper lip (philtrum); and a thin upper lip. Individuals with this condi...
Eating, diet, and nutrition can play a role in causing, preventing, and treating some of the diseases and disorders of the digestive system that are affected by smoking, including heartburn and GERD, liver diseases, Crohns disease, colon polyps, pancreatitis, and gallstones. More information about eating, diet, and nut...
This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t...
Complement factor I deficiency is caused by mutations in the CFI gene. This gene provides instructions for making a protein called complement factor I. This protein helps regulate a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to dest...
Studies show that the following risk factors may increase a person's chances of developing colorectal cancer: age, polyps, personal history, family history, and ulcerative colitis.
X-linked spondyloepiphyseal dysplasia tarda is inherited in an X-linked recessive pattern. The TRAPPC2 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who ...
Mutations in the SALL1 gene cause Townes-Brocks Syndrome. The SALL1 gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. SALL proteins act as transcription factors, which means they attach (bi...
Andersen-Tawil syndrome is a rare genetic disorder; its incidence is unknown. About 100 people with this condition have been reported worldwide.
Mucolipidosis type IV is estimated to occur in 1 in 40,000 people. About 70 percent of affected individuals have Ashkenazi Jewish ancestry.
Summary : Flu is a respiratory infection caused by a number of viruses. Most people with the flu get better on their own. But it can be serious. It can cause complications and sometimes even death. Getting the flu vaccine every year is the best way to lower your chance of getting the flu and spreading it to others. ...
The NINDS supports a broad range of research on neural tube defects such as SB aimed at finding ways to treat, prevent, and, ultimately, cure these disorders. Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce the incidence of neural tube defects...
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.
How might hypothalamic dysfunction be treated? Treatment is based on the specific cause of the hypothalamic dysfunction. For instance, if the condition is caused by a tumor, radiation and/or surgery may be warranted. If the hypothalamic dysfunction is caused by a hormone deficiency, the condition might be treated with ...
Aicardi-Goutieres syndrome can have different inheritance patterns. In most cases it 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 typic...