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Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis and treatment options depend on: - The type of brain stem glioma. - Where the tumor is found in the brain and if it has spread within the brain stem. - The age of the child when diagnosed. - Whether or not the ch...
Hepatitis A usually gets better in a few weeks without treatment. However, some people can have symptoms for up to 6 months. Your doctor may suggest medicines to help relieve your symptoms. Talk with your doctor before taking prescription and over-the-counter medicines. See your doctor regularly to mak...
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. This leads to transient intrahepatic...
Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals. People with this condition have recurrent episodes of neutropenia during which there is a shortage (deficiency) of neutrophils. Neutrophils are a type of white blood cell that plays a role in inflammation...
What causes silicosis? Silicosis is caused by breathing in tiny bits of silica dust. When people breathe silica dust, they inhale tiny particles of silica that has crystallized. This silica dust can cause fluid buildup and scar tissue in the lungs that cuts down the ability to breathe.
Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor). Additionally, the lower jaw (mandible) may be abnormally ...
Investigators researching lupus seek to increase scientific understanding of the disorder and to find ways to treat, prevent, and ultimately, cure it. Several components of the National Institutes of Health support research on lupus.
You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chem...
Smallpox is a disease caused by the Variola major virus. Some experts say that over the centuries it has killed more people than all other infectious diseases combined. Worldwide immunization stopped the spread of smallpox three decades ago. The last case was reported in 1977. Two research labs still keep small amounts...
Most cases of 22q13.3 deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the chromosome deletion to...
These resources address the diagnosis or management of Ohdo syndrome, SBBYS variant: - Gene Review: Gene Review: KAT6B-Related Disorders - Genetic Testing Registry: Young Simpson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti...
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.
The most common cause of P.A.D. is atherosclerosis, a buildup of plaque in the arteries. Over time, plaque can harden and narrow the arteries. This limits the flow of oxygen-rich blood to your organs and other parts of your body.
What are the signs and symptoms of Thyrotoxic periodic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyrotoxic periodic paralysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli...
Acinetobacter is often resistant to many commonly prescribed antibiotics. Decisions on treatment of infections with Acinetobacter should be made on a case-by-case basis by a healthcare provider. Acinetobacter infection typically occurs in ill patients and can either cause or contribute to death in these patients.
Lifestyle changes to treat heart failure may include - reducing salt and fluid intake - following a heart healthy diet - adopting a plan to lose weight - quitting smoking - engaging in physical activity. reducing salt and fluid intake following a heart healthy diet adopting a plan to lose weight quitting smoking e...
Pyruvate kinase deficiency is caused by mutations in the PKLR gene. The PKLR gene is active in the liver and in red blood cells, where it provides instructions for making an enzyme called pyruvate kinase. The pyruvate kinase enzyme is involved in a critical energy-producing process known as glycolysis. During glycolysi...
These resources address the diagnosis or management of Feingold syndrome: - Gene Review: Gene Review: Feingold Syndrome 1 - Genetic Testing Registry: Feingold syndrome 1 - Genetic Testing Registry: Feingold syndrome 2 - MedlinePlus Encyclopedia: Duodenal Atresia - MedlinePlus Encyclopedia: Esophageal Atresia - Me...
Although Silver syndrome appears to be a rare condition, its exact prevalence is unknown.
Methylmalonic acidemia with homocystinuria is usually 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 symptom...
In about 85 percent of cases of Beckwith-Wiedemann syndrome, only one person in a family has been diagnosed with the condition. However, parents of one child with Beckwith-Wiedemann syndrome may be at risk of having other children with the disorder. This risk depends on the genetic cause of the condition. Another 10 t...
National Eye Institute National Institutes of Health 2020 Vision Place Bethesda, MD 20892-3655 301-496-5248 E-mail: 2020@nei.nih.gov www.nei.nih.gov The Glaucoma Foundation 80 Maiden Lane, Suite 700 New York, NY 10038 212-285-0080 Glaucoma Research Foundation 251 Post Street, Suite 600 San Francisco, CA 9410...
Mutations in the ACADM gene cause MCAD deficiency. This gene provides instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called medium-chain fatty acids. These fatty acids are found in foods and the body's fat tissues. Fatty acids a...
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.
Blau syndrome results from mutations in the NOD2 gene. The protein produced from this gene helps defend the body from foreign invaders, such as viruses and bacteria, by playing several essential roles in the immune response, including inflammatory reactions. An inflammatory reaction occurs when the immune system sends ...
Summary : Many Americans use medical treatments that are not part of mainstream medicine. When you are using these types of care, it may be called complementary, integrative, or alternative medicine. Complementary medicine is used together with mainstream medical care. An example is using acupuncture to help with si...
These resources address the diagnosis or management of IPEX syndrome: - Gene Review: Gene Review: IPEX Syndrome - Genetic Testing Registry: Insulin-dependent diabetes mellitus secretory diarrhea syndrome - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and manage...
Patients with essential thrombocythemia may have no signs or symptoms. Essential thrombocythemia often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by essential thrombocytopenia or by other conditions. Check with your doctor if you have any of the...
Scientists are working to understand the complex interactions between the brain and the part of the inner ear responsible for balance. They are also studying the effectiveness of certain exercises as a treatment option for balance disorders. An NIDCD-supported clinical trial in benign paroxysmal positioning vertigo (BP...
In most cases, abdominal adhesions do not cause symptoms. When symptoms are present, chronic abdominal pain is the most common.
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.
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 ...
How is mastocytic enterocolits diagnosed? Mastocytic enterocolitis is diagnosed after an endoscopic procedure in which the doctor takes samples of tissues (biopsies) from the lining of the intestines. The tissue is then sent to a pathologist who looks at it under the microscope. Mast cells may be hard to see on biopsie...
Summary : Iron is a mineral that our bodies need for many functions. For example, iron is part of hemoglobin, a protein which carries oxygen from our lungs throughout our bodies. It helps our muscles store and use oxygen. Iron is also part of many other proteins and enzymes. Your body needs the right amount of iron....
Freeman-Sheldon syndrome may be caused by mutations in the MYH3 gene. The MYH3 gene provides instructions for making a protein called embryonic skeletal muscle myosin heavy chain 3. This protein belongs to a group of proteins called myosins, which are involved in cell movement and transport of materials within and betw...
What causes idiopathic juxtafoveal retinal telangiectasia? The exact, underlying cause of idiopathic juxtafoveal retinal telangiectasia (IJT) is not known. IJT has been reported in some siblings (including twins) and other family members of affected people. This suggests there may be a genetic component to IJT; however...
Lujan syndrome is caused by at least one mutation in the MED12 gene. This gene provides instructions for making a protein that helps regulate gene activity; it is involved in many aspects of early development. The MED12 gene mutation that causes Lujan syndrome changes a single protein building block (amino acid) in the...
Sepiapterin reductase deficiency appears to be a rare condition. At least 30 cases have been described in the scientific literature.
Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. However, it can occur in associat...
The National Institute of Neurological Disorders and Stroke (NINDS) and other Institutes of the National Institutes of Health (NIH) conduct research related to POTS and support additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to p...
Initial treatment generally involves immobilizing the wrist in a splint, nonsteroidal anti-inflammatory drugs to temporarily reduce swelling, and injections of corticosteroid drugs (such as prednisone). For more severe cases, surgery may be recommended.
Familial porencephaly is a rare condition, although the exact prevalence is unknown. At least eight affected families have been described in the scientific literature.
Adenoameloblastoma is a lesion that is often found in the upper jaw. Some consider it a non-cancerous tumor, others a hamartoma (tumor-like growth) or cyst. Often, an early sign of the lesion is painless swelling. These tumors are rarely found outside of the jaw.
People with Whipple disease may have complications caused by malnutrition, which is due to damaged villi in the small intestine. As a result of delayed diagnosis or treatment, people may experience the following complications in other areas of the body: - long-lasting nutritional deficiencies - heart ...
Oral cancer can form in any part of the mouth or throat. Most oral cancers begin in the tongue and in the floor of the mouth. Anyone can get oral cancer, but the risk is higher if you are male, over age 40, use tobacco or alcohol or have a history of head or neck cancer. Frequent sun exposure is also a risk for lip can...
How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic ...
POMC deficiency is a rare condition; approximately 50 cases have been reported in the medical literature.
Respiratory syncytial virus (RSV) causes mild, cold-like symptoms in adults and older healthy children. It can cause serious problems in young babies, including pneumonia and severe breathing problems. Premature babies and those with other health problems have the highest risk. A child with RSV may have a fever, stuffy...
Preterm labor is labor that starts before 37 completed weeks of pregnancy. It can lead to premature birth. Premature babies may face serious health risks. Symptoms of preterm labor include - Contractions every 10 minutes or more often - Leaking fluid or bleeding from the vagina - Feeling of pressure in ...
Whipple's disease is a multi-system infectious bacterial disease that interferes with the body's ability to metabolize fats. Caused by the bacterium Tropheryma whipplei, the disorder can affect any system in the body, including the brain, eyes, heart, joints, and lungs, but usually occurs in the gastrointestinal system...
Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. People with this condition also have dr...
The prevalence of SCOT deficiency is unknown. More than 20 cases of this condition have been reported in the scientific literature.
C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a protein and together with other proteins, C1r and C1s, it...
Dermatomyositis is one of a group of acquired muscle diseases called inflammatory myopathies (disorder of muscle tissue or muscles), which are characterized by chronic muscle inflammation accompanied by muscle weakness. The cardinal symptom is a skin rash that precedes or accompanies progressive muscle weakness. Dermat...
Summary : DASH stands for Dietary Approaches to Stop Hypertension. It is an eating plan that is based on research studies sponsored by the National Heart, Lung, and Blood Institute (NHLBI). These studies showed that DASH lowers high blood pressure and improves levels of cholesterol. This reduces your risk of getting he...
How might the syndrome of inappropriate antidiuretic hormone be treated? Treatment of syndrome of inappropriate antidiuretic hormone (SIADH) may involve fluid restriction, treatment of the underlying cause once determined, and medication that decreases the effect of antidiuretic hormone on the kidneys.
The signs and symptoms of glomerular disease include - albuminuria: large amounts of protein in the urine - hematuria: blood in the urine - reduced glomerular filtration rate: inefficient filtering of wastes from the blood - hypoproteinemia: low blood protein - edema: swelling in parts of the body ...
Is genetic testing available for Stargardt disease? Yes. Genetic testing may help distinguish the type of Stargardt disease a person has, and provide information about the mode of inheritance and risks to other family members. The Genetic Testing Registry (GTR) provides information about the genetic tests available for...
When nephrogenic diabetes insipidus results from mutations in the AVPR2 gene, the condition has an X-linked recessive pattern of inheritance. The AVPR2 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 su...
Two of the most common possible problems are blood clots and infection. Other complications, such as new or ongoing pain, stiffness, fracture, bleeding, or injury to the blood vessels can occur. Serious medical complications, such as heart attack or stroke, are very rare.
Uncomplicated cases of diarrhea due to Y. enterocolitica usually resolve on their own without antibiotic treatment. However, in more severe or complicated infections, antibiotics such as aminoglycosides, doxycycline, trimethoprim-sulfamethoxazole, or fluoroquinolones may be useful.
Most cases of Laron syndrome are inherited in an autosomal recessive pattern, which means both copies of the GHR 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 conditio...
Cockayne syndrome is a rare disorder characterized by short stature and an appearance of premature aging. Features of this disorder include a failure to gain weight and grow at the expected rate (failure to thrive), abnormally small head size (microcephaly), and impaired development of the nervous system. Affected indi...
Smith-Magenis syndrome is typically not inherited. This condition usually results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most often, people with Smith-Magenis syndrome have no history of the condition in their family.
Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, however, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In acute myeloid le...
Is genetic testing available to detect MTHFR gene mutations? Yes. Genetic testing is available for MTHFR gene mutations. This testing can be used in people with suspected homocystinuria or to determine the cause of elevated homocysteine levels in the blood. Genetic testing for C677T and A1286C may be indicated in a per...
What causes anencephaly? The underlying cause of anencephaly is not fully understood. Like other forms of neural tube defects (NTDs), anencephaly is likely caused by the interaction of multiple genes and environmental factors, many of which remain unknown. Variations in many genes may influence the risk of developing a...
How might Coats disease be treated? The treatment of Coats disease depends on the signs and symptoms present in each person. Treatment is usually directed towards destroying affected blood vessels in the retina and salvaging as much vision as possible. A procedure that uses extreme cold to destroy abnormal blood vessel...
47 XXX syndrome, also called trisomy X or triple X syndrome, is characterized by the presence of an additional (third) X chromosome in each of a female's cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls ...
Milroy disease is a lymphatic disease that causes swelling (lymphedema) in the lower legs and feet. Lymphedema is usually present at birth or develops in infancy. It typically occurs on both sides of the body and can worsen over time. Other symptoms may include accumulation of fluid in the scrotum in males (hydrocele),...
Some people with cysticercosis do not need to be treated. There are medications available to treat cysticercosis for those who do need treatment. Sometimes surgery may be needed. Your doctor will advise you on which treatment is best for you. More on: Resources for Health Professionals: Treatment More on: Tae...
Learning disabilities can be lifelong conditions. In some people, several overlapping learning disabilities may be apparent. Other people may have a single, isolated learning problem that has little impact on their lives.
LCMV infections can occur after exposure to fresh urine, droppings, saliva, or nesting materials from infected rodents. Transmission may also occur when these materials are directly introduced into broken skin, the nose, the eyes, or the mouth, or presumably, via the bite of an infected rodent. Person-to-person transm...
Summary : Surgeons can reshape the appearance of body parts through cosmetic surgery. Some of the most common body parts people want to improve through surgery include - Breasts: Increase or reduce the size of breasts or reshape sagging breasts - Ears: Reduce the size of large ears or set protruding ears ba...
X-linked creatine deficiency is a rare condition that primarily affects the brain. Signs and symptoms generally develop before age 2 and may include mild to severe intellectual disability; delayed speech development, behavioral problems (i.e. autistic features, hyperactivity), and seizures. Less commonly, affected peop...
The small intestine is part of the upper gastrointestinal (GI) tract and is a tube-shaped organ between the stomach and large intestine. The upper GI tract also includes the mouth, esophagus, stomach, and duodenum, or the first part of the small intestine. Most food digestion and nutrient absorption ta...
Both the autosomal recessive and autosomal dominant forms of Robinow syndrome are rare. Fewer than 200 people with autosomal recessive Robinow syndrome have been described in the medical literature. This form of the condition has been identified in families from several countries, including Turkey, Oman, Pakistan, and...
Congenital insensitivity to pain is a rare condition; about 20 cases have been reported in the scientific literature.
Mutations in the LPL gene cause familial lipoprotein lipase deficiency. The LPL gene provides instructions for producing an enzyme called lipoprotein lipase, which is found primarily on the surface of cells that line tiny blood vessels (capillaries) within muscles and fatty (adipose) tissue. This enzyme helps break dow...
The prevalence of NARP is unknown. This disorder is probably less common than a similar but more severe condition, Leigh syndrome, which affects about 1 in 40,000 people.
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 is Tay-Sachs disease inherited? This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of...
This condition is inherited in an autosomal recessive pattern, which means both copies of the TYMP 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.
What causes hypothalamic dysfunction? Hypothalamic dysfunction may be caused by any of the following : Birth defects of the brain or hypothalamus (e.g. holoprosencephaly, septo-optic dysplasia) Genetic disorders (e.g. Prader-Willi syndrome, growth hormone deficiency) Eating disorders (e.g. anorexia, bulimia) Tumors (e....
What causes chondrocalcinosis 2? Chondrocalcinosis 2 is caused by changes (mutations) in the ANKH gene. This gene encodes a protein that helps transport pyrophosphate (a substance that regulates bone formation). Mutations in ANKH can cause high levels of pyrophosphate and calcium pyrophosphate dihydrate crystals to acc...
The AB variant is extremely rare; only a few cases have been reported worldwide.
Ornithine translocase deficiency is a very rare disorder. Fewer than 100 affected individuals have been reported worldwide.
These resources address the diagnosis or management of caudal regression syndrome: - MedlinePlus Encyclopedia: Bladder Exstrophy Repair - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Inguinal Hernia Repair - MedlinePlus Encyclopedia: Neurogenic Bladder These resources from MedlinePlus offer info...
These resources address the diagnosis or management of BFNS: - Boston Children's Hospital: My Child Has...Seizures and Epilepsy - Epilepsy Action: Benign Neonatal Convulsions - Gene Review: Gene Review: KCNQ2-Related Disorders - Gene Review: Gene Review: KCNQ3-Related Disorders - Genetic Testing Registry: Benign f...
Itching is skin tingling or irritation that makes you want to scratch the itchy area. It's a symptom of many health conditions. Common causes are - Allergic reactions - Eczema - Dry skin - Insect bites and stings - Irritating chemicals - Parasites such as pinworms, scabies, head and body lic...
Pain is a feeling triggered in the nervous system. Pain may be sharp or dull. It may come and go, or it may be constant. You may feel pain in one area of your body, such as your back, abdomen or chest or you may feel pain all over, such as when your muscles ache from the flu. Pain can be helpful in diagnosing a prob...
How might narcolepsy be treated? There is currently no cure for narcolepsy, but some of the symptoms can be managed with medications and lifestyle changes. Most affected people improve if they maintain a regular sleep schedule, usually 7.5 to 8 hours of sleep per night. Scheduled naps during the day also may help. Othe...
Kidney failure means your kidneys no longer filter your blood well enough to keep you healthy. Failing kidneys do a poor job of removing wastes and extra fluid from your blood. Wastes and extra fluid begin to build up. The buildup of wastes can make you sick. You may have the following symptoms: - ankl...
Dialysis is a treatment to filter wastes and water from your blood. There are two major forms of dialysis: hemodialysis and peritoneal dialysis. (Watch the video to learn more about dialysis. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on y...
GRACILE syndrome is caused by a mutation in the BCS1L gene. The protein produced from this gene is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. In mitochondria, the BCS1L protein plays a role in oxidative phosphorylation, which is a multistep process t...
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.
Christianson syndrome is caused by mutations in the SLC9A6 gene, which provides instructions for making a protein called sodium/hydrogen exchanger 6 (Na+/H+ exchanger 6 or NHE6). The NHE6 protein is found in the membrane surrounding endosomes, which are compartments within cells that recycle proteins and other material...
It is estimated that 750,000 people in the United States have dilated cardiomyopathy; roughly half of these cases are familial.
Summary : There are many new responsibilities when you have a baby. One of them is to make sure they get the checkups that they need. Well-baby exams are important in making sure that your baby is growing and developing properly. If there are problems, you can catch them early. This means that there is a better chance ...
Mutations in the CLN8 gene cause Northern epilepsy. The CLN8 gene provides instructions for making a protein whose function is not well understood. The CLN8 protein is thought to play a role in transporting materials in and out of a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved ...