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Most cases of Poland syndrome are sporadic, which means they are not inherited and occur in people with no history of the disorder in their families. Rarely, this condition is passed through generations in families. In these families the condition appears to be inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder, although no associated genes have been found.
Summary : Air pollution is a mixture of solid particles and gases in the air. Car emissions, chemicals from factories, dust, pollen and mold spores may be suspended as particles. Ozone, a gas, is a major part of air pollution in cities. When ozone forms air pollution, it's also called smog. Some air pollutants are poisonous. Inhaling them can increase the chance you'll have health problems. People with heart or lung disease, older adults and children are at greater risk from air pollution. Air pollution isn't just outside - the air inside buildings can also be polluted and affect your health. Environmental Protection Agency
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.
The incidence of Menkes syndrome and occipital horn syndrome is estimated to be 1 in 100,000 newborns.
How is Ehlers-Danlos syndrome, dermatosparaxis type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), dermatosparaxis type is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the ADAMTS2 gene and/or a skin biopsy can then be ordered to confirm the diagnosis.
How might tracheobronchopathia osteoplastica be treated? There is no specific treatment for tracheobronchopathia osteoplastica (TO). Recurrent infections and collapse of the lung are treated conventionally. Inhaled corticosteroids may have some impact on people in early stages of the condition, but whether they may be helpful for people with more advanced disease needs further study. Occasionally, tracheostomy may be needed. Surgical treatment options may be considered when all conservative therapies have been unsuccessful. The long-term outlook (prognosis) for affected people is generally good, but usually depends on the extension and location of the lesions. It has been reported that over 55% of affected people do not have any disease progression following the diagnosis.
Mutations in the NDP gene cause Norrie disease. The NDP gene provides instructions for making a protein called norrin. Norrin participates in the Wnt cascade, a sequence of steps that affect the way cells and tissues develop. In particular, norrin seems to play a critical role in the specialization of retinal cells for their unique sensory capabilities. It is also involved in the establishment of a blood supply to tissues of the retina and the inner ear, and the development of other body systems. In order to initiate the Wnt cascade, norrin must bind (attach) to another protein called frizzled-4. Mutations in the norrin protein interfere with its ability to bind to frizzled-4, resulting in the signs and symptoms of Norrie disease.
Mutations in the KRT10 gene cause ichthyosis with confetti. This gene provides instructions for making a protein called keratin 10, which is found in cells called keratinocytes in the outer layer of the skin (the epidermis). In the fluid-filled space inside these cells (the cytoplasm), this tough, fibrous protein attaches to another keratin protein (produced from a different gene) to form fibers called intermediate filaments. These filaments assemble into strong networks that provide strength and resiliency to the skin. KRT10 gene mutations associated with ichthyosis with confetti alter the keratin 10 protein. The altered protein is abnormally transported to the nucleus of cells, where it cannot form networks of intermediate filaments. Loss of these networks disrupts the epidermis, contributing to the red, scaly skin. However, in some abnormal cells, the mutated gene corrects itself through a complex process by which genetic material is exchanged between chromosomes. As a result, normal keratin 10 protein is produced and remains in the cytoplasm. The cell becomes normal and, as it continues to grow and divide, forms small patches of normal skin that give ichthyosis with confetti its name.
Is there genetic testing available for carnitine-acylcarnitine translocase deficiency? Genetic testing for carnitine-acylcarnitine translocase deficiency can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes in the pair of genes that cause carnitine-acylcarnitine translocase deficiency. In some affected children, both gene changes can be found. However, in other children, neither or only one of the two gene changes can be found, even though we know they are present. DNA testing is not necessary to diagnose carnitine-acylcarnitine translocase deficiency, however, it can be helpful for carrier testing or prenatal diagnosis.
How might Cornelia de Lange syndrome be treated? Because Cornelia de Lange syndrome (CdLS) affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, many people affected by CdLS have poor growth after birth and may require supplemental formulas and/or gastrostomy tube placement to meet nutritional needs. Ongoing physical, occupational, and speech therapies are often recommended to optimize developmental potential. Surgery may be necessary to treat skeletal abnormalities, gastrointestinal problems, congenital heart defects and other health problems. Medications may be prescribed to prevent or control seizures. The CdLS foundation's Web site offers more specific information about the treatment and management of CdLS. Please click on the link to access this resource.
The first and most common symptoms of primary biliary cirrhosis are - fatigue, or feeling tired - itching skin, and darkened skin in itching areas due to scratching - dry eyes and mouth Some people may have jaundice, a condition that causes the skin and whites of the eyes to turn yellow. Health care providers diagnose up to 60 percent of people with primary biliary cirrhosis before symptoms begin.2 Routine blood tests showing abnormal liver enzyme levels may lead a health care provider to suspect that a person without symptoms has primary biliary cirrhosis.
Nephrotic syndrome is a collection of symptoms that indicate kidney damage. Nephrotic syndrome includes the following: - proteinurialarge amounts of protein in the urine - hyperlipidemiahigher than normal fat and cholesterol levels in the blood - edema, or swelling, usually in the legs, feet, or ankles and less often in the hands or face - hypoalbuminialow levels of albumin in the blood Albumin is a protein that acts like a sponge, drawing extra fluid from the body into the bloodstream where it remains until removed by the kidneys. When albumin leaks into the urine, the blood loses its capacity to absorb extra fluid from the body, causing edema. Nephrotic syndrome results from a problem with the kidneys filters, called glomeruli. Glomeruli are tiny blood vessels in the kidneys that remove wastes and excess fluids from the blood and send them to the bladder as urine. As blood passes through healthy kidneys, the glomeruli filter out the waste products and allow the blood to retain cells and proteins the body needs. However, proteins from the blood, such as albumin, can leak into the urine when the glomeruli are damaged. In nephrotic syndrome, damaged glomeruli allow 3 grams or more of protein to leak into the urine when measured over a 24-hour period, which is more than 20 times the amount that healthy glomeruli allow.
No cures or specific therapies for ML currently exists. Therapies are generally geared toward treating symptoms and providing supportive care to the child. For individuals with corneal clouding, surgery to remove the thin layer over the eye has been shown to reduce the cloudiness in the eye. However, this improvement may be only temporary. Physical and occupational therapy may help children with motor delays. Children with language delays may benefit from speech therapy. Children at risk for failure to thrive (growth failure) may need nutritional supplements, especially iron and vitamin B12 for persons with ML IV. Respiratory infections should be treated immediately and fully with antibiotics.
The NINDS supports research on shingles and shingles-related conditions. Current studies focus on the relationship between the persistence of neurotropic viruses and development of neurological diseases including herpes simplex and varicella-zoster viruses.
X-linked scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the FHL1 gene. These cases are inherited in an X-linked dominant manner. Treatment is symptomatic and supportive.
Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I is the less severe form of this condition. People with this condition typically develop signs and symptoms of sialidosis in their teens or twenties. Characteristic features may include sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings. Sialidosis type I is caused by mutations in the NEU1 gene. Individuals with sialidosis type I have mutations that result in some functional NEU1 enzyme. The condition is inherited in an autosomal recessive pattern. It does not affect intelligence or life expectancy.
Is it hard for you to fall asleep or stay asleep through the night? Do you wake up feeling tired or feel very sleepy during the day, even if you have had enough sleep? You might have a sleep disorder. The most common kinds are - Insomnia - a hard time falling or staying asleep - Sleep apnea - breathing interruptions during sleep - Restless legs syndrome - a tingling or prickly sensation in the legs - Narcolepsy - daytime "sleep attacks" Nightmares, night terrors, sleepwalking, sleep talking, head banging, wetting the bed and grinding your teeth are kinds of sleep problems called parasomnias. There are treatments for most sleep disorders. Sometimes just having regular sleep habits can help.
What are the signs and symptoms of Dystonia 19? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 19. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Chorea - Dyskinesia - Dystonia - Paroxysmal dyskinesia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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.
Mutations in the SMAD4 gene cause Myhre syndrome. The SMAD4 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor beta (TGF-) pathway, allows the environment outside the cell to affect how the cell produces other proteins. As part of this pathway, the SMAD4 protein interacts with other proteins to control the activity of particular genes. These genes influence many areas of development. Some researchers believe that the SMAD4 gene mutations that cause Myhre syndrome impair the ability of the SMAD4 protein to attach (bind) properly with the other proteins involved in the signaling pathway. Other studies have suggested that these mutations result in an abnormally stable SMAD4 protein that remains active in the cell longer. Changes in SMAD4 binding or availability may result in abnormal signaling in many cell types, which affects development of several body systems and leads to the signs and symptoms of Myhre syndrome.
How might Albright's hereditary osteodystrophy be treated? Treatment with calcium and vitamin D supplements help maintain normal levels of calcium in the blood. If there are high levels of phosphate in the blood, it may be recommended to eat a low-phosphorous diet or take medications called phosphate binders to help lower the levels of phosphate. Examples of phosphate binders include calcium carbonate, calcium acetate, and sevelamer HCl.
The urinary system is the body's drainage system for removing wastes and extra water. It includes two kidneys, two ureters, a bladder, and a urethra. Urinary tract infections (UTIs) are the second most common type of infection in the body. You may have a UTI if you notice - Pain or burning when you urinate - Fever, tiredness, or shakiness - An urge to urinate often - Pressure in your lower belly - Urine that smells bad or looks cloudy or reddish - Pain in your back or side below the ribs People of any age or sex can get UTIs. But about four times as many women get UTIs as men. You're also at higher risk if you have diabetes, need a tube to drain your bladder, or have a spinal cord injury. If you think you have a UTI it is important to see your doctor. Your doctor can tell if you have a UTI with a urine test. Treatment is with antibiotics. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Brown-Sequard syndrome (BSS) is a rare neurological condition characterized by a lesion in the spinal cord which results in weakness or paralysis (hemiparaplegia) on one side of the body and a loss of sensation (hemianesthesia) on the opposite side. BSS may be caused by a spinal cord tumor, trauma (such as a puncture wound to the neck or back), ischemia (obstruction of a blood vessel), or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis.
How might a Zika virus infection be treated? There is no vaccine to prevent Zika virus infections, nor is there a specific medicine to treat Zika. Individuals infected with the Zika virus should get plenty of rest, drink fluids, and take medications such as acetaminophen for pain. Aspirin and other nonsteroidal anti-inflammatory medications (NSAIDS) should be avoided until dengue has been ruled out. In pregnant women with evidence of Zika virus in the blood or amniotic fluid, serial ultrasounds should be considered to monitor fetal anatomy and growth every 3-4 weeks. Referral to a maternal-fetal medicine specialist or infectious disease specialist with expertise in pregnancy management is recommended.
Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. New ways to prevent liver cancer are being studied in clinical trials. Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for liver cancer prevention trials that are now accepting patients.
Fanconi anemia is an inherited condition that affects the bone marrow, resulting in decreased production of all types of blood cells. People with this condition have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot). Not enough white blood cells can lead to infections; a lack of red blood cells may result in anemia; and a decreased amount of platelets may lead to excess bleeding. Fanconi anemia can be caused by mutations in various genes; it can either be inherited in an autosomal recessive or X-linked recessive fashion.
These resources address the diagnosis or management of Mayer-Rokitansky-Kster-Hauser syndrome: - American Urological Association Foundation: Vaginal Agenesis - Children's Hospital Boston: Center for Young Women's Health - Genetic Testing Registry: Rokitansky Kuster Hauser syndrome 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
What causes diffuse idiopathic skeletal hyperostosis ? The exact underlying cause of diffuse idiopathic skeletal hyperostosis (DISH) is poorly understood. However, several factors have been associated with an increased risk of developing the condition. For example, conditions that disturb cartilage metabolism (such as diabetes mellitus, acromegaly, or certain inherited connective tissue disorders) may lead to DISH. Long-term use of medications called retinoids (such as isotretinoin) can increase the risk for DISH. Age (being older than age 50) and sex (being male) may also play a role.
Baylisascaris worms are intestinal parasites found in a wide variety of animals. Different species of Baylisascaris are associated with different animal hosts. For example, Baylisascaris procyonis is found in raccoons and Baylisascaris columnaris is an intestinal parasite found in skunks. Cases of Baylisascaris infection in people are not frequently reported, but can be severe. Baylisascaris procyonis is thought to pose the greatest risk to humans because of the often close association of raccoons to human dwellings.
Dubin-Johnson syndrome is a condition characterized by jaundice, which is a yellowing of the skin and whites of the eyes. In most affected people jaundice appears during adolescence or early adulthood, although a few individuals have been diagnosed soon after birth. Jaundice is typically the only symptom of Dubin-Johnson syndrome, but some people also experience weakness, mild upper abdominal pain, nausea, and/or vomiting.
These resources address the diagnosis or management of Cushing disease: - Genetic Testing Registry: Pituitary dependent hypercortisolism - MedlinePlus Encyclopedia: Cortisol Level - MedlinePlus Encyclopedia: Cushing Disease - The Endocrine Society's Clinical Guidelines: The Diagnosis of Cushing's Syndrome 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
16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2. People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of autism spectrum disorders. These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language. In 16p11.2 deletion syndrome, expressive language skills (vocabulary and the production of speech) are generally more severely affected than receptive language skills (the ability to understand speech). Some people with this disorder have recurrent seizures (epilepsy). Some affected individuals have minor physical abnormalities such as low-set ears or partially webbed toes (partial syndactyly). People with this disorder are also at increased risk of obesity compared with the general population. However, there is no particular pattern of physical abnormalities that characterizes 16p11.2 deletion syndrome. Signs and symptoms of the disorder vary even among affected members of the same family. Some people with the deletion have no identified physical, intellectual, or behavioral abnormalities.
You can prevent and control coronary heart disease (CHD)by taking action to control your risk factors with heart-healthy lifestyle changes and medicines. Examples of risk factors you can control include high blood cholesterol, high blood pressure, and overweight and obesity. Only a few risk factorssuch as age, gender, and family historycant be controlled. Your risk for CHD increases with the number of risk factors you have. To reduce your risk of CHD and heart attack, try to control each risk factor you have by adopting the following heart-healthy lifestyles: Heart-healthy eating Maintaining a healthy weight Managing stress Physical activity Quitting smoking Know your family history of health problems related to CHD. If you or someone in your family has CHD, be sure to tell your doctor. If lifestyle changes aren't enough, you also may need medicines to control your CHD risk factors.
Summary : Weight loss surgery helps people with extreme obesity to lose weight. It may be an option if you cannot lose weight through diet and exercise or have serious health problems caused by obesity. There are different types of weight loss surgery. They often limit the amount of food you can take in. Some types of surgery also affect how you digest food and absorb nutrients. All types have risks and complications, such as infections, hernias, and blood clots. Many people who have the surgery lose weight quickly, but regain some weight later on. If you follow diet and exercise recommendations, you can keep most of the weight off. You will also need medical follow-up for the rest of your life. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
What are the signs and symptoms of Carpotarsal osteochondromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Carpotarsal osteochondromatosis. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the wrist 90% Multiple enchondromatosis 90% Tarsal synostosis 90% Autosomal dominant inheritance - Joint swelling - Osteochondroma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Richter syndrome is a rare condition in which chronic lymphocytic leukemia (CLL) changes into a fast-growing type of lymphoma. Symptoms of Richter syndrome can include fever, loss of weight and muscle mass, abdominal pain, and enlargement of the lymph nodes, liver, and spleen. Laboratory results may show anemia and low platelet counts (which can lead to easy bleeding and bruising).
Kidney dysplasia is a condition in which the internal structures of one or both of a fetus kidneys do not develop normally while in the womb. During normal development, two thin tubes of muscle called ureters grow into the kidneys and branch out to form a network of tiny structures called tubules. The tubules collect urine as the fetus grows in the womb. In kidney dysplasia, the tubules fail to branch out completely. Urine that would normally flow through the tubules has nowhere to go. Urine collects inside the affected kidney and forms fluid-filled sacs called cysts. The cysts replace normal kidney tissue and prevent the kidney from functioning. Kidney dysplasia can affect one kidney or both kidneys. Babies with severe kidney dysplasia affecting both kidneys generally do not survive birth. Those who do survive may need the following early in life: - blood-filtering treatments called dialysis - a kidney transplant Children with dysplasia in only one kidney have normal kidney function if the other kidney is unaffected. Those with mild dysplasia of both kidneys may not need dialysis or a kidney transplant for several years. Kidney dysplasia is also called renal dysplasia or multicystic dysplastic kidney.
Risk factors that increase your chance of getting lung cancer include - cigarette, cigar, and pipe smoking, which account for well over half of all cases of lung cancer - secondhand smoke - family history - HIV infection - environmental risk factors - beta carotene supplements in heavy smokers. cigarette, cigar, and pipe smoking, which account for well over half of all cases of lung cancer secondhand smoke family history HIV infection environmental risk factors beta carotene supplements in heavy smokers.
Summary : Botox is a drug made from a toxin produced by the bacterium Clostridium botulinum. It's the same toxin that causes a life-threatening type of food poisoning called botulism. Doctors use it in small doses to treat health problems, including - Temporary smoothing of facial wrinkles and improving your appearance - Severe underarm sweating - Cervical dystonia - a neurological disorder that causes severe neck and shoulder muscle contractions - Blepharospasm - uncontrollable blinking - Strabismus - misaligned eyes - Chronic migraine - Overactive bladder Botox injections work by weakening or paralyzing certain muscles or by blocking certain nerves. The effects last about three to twelve months, depending on what you are treating. The most common side effects are pain, swelling, or bruising at the injection site. You could also have flu-like symptoms, headache, and upset stomach. Injections in the face may also cause temporary drooping eyelids. You should not use Botox if you are pregnant or breastfeeding.
Cranioectodermal dysplasia is a rare condition with an unknown prevalence. Approximately 40 cases of this condition have been described in the medical literature.
These resources address the diagnosis or management of 22q11.2 duplication: - Gene Review: Gene Review: 22q11.2 Duplication - Genetic Testing Registry: 22q11.2 duplication syndrome 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
What are the signs and symptoms of hemoglobin E disease? Affected individuals can develop mild thalassemia in the first few months of life. While mild splenomegaly and/or anemia can occur, it is generally considered a benign condition. When a person inherits a gene mutation from one of their parents, they are said to be a carrier or have hemoglobin trait. These individuals are typically asymptomatic, although they may have small red blood cells. However, carriers may be at risk to have children with hemoglobin E/thalassemia (which is similar to thalassemia) or hemoglobin sickle E disease (milder form of sickle cell anemia). Both of these conditions are much more severe than hemoglobin E disease. They are are also inherited in an autosomal recessive fashion.
Perrault syndrome is a rare disorder; fewer than 100 affected individuals have been described in the medical literature. It is likely that the condition is underdiagnosed, because males without an affected sister will likely be misdiagnosed as having isolated (nonsyndromic) hearing loss rather than Perrault syndrome.
If your hands have become stiff because of arthritis or if you have a physical disability, you may find it difficult to use your toothbrush or dental floss. The following tips might make it easier for you to clean your teeth and gums. Make the toothbrush easier to hold. The same kind of Velcro strap used to hold food utensils is helpful for some people. Make the toothbrush handle bigger. You can cut a small slit in the side of a tennis ball and slide it onto the handle of the toothbrush. You can also buy a toothbrush with a large handle, or you can slide a bicycle grip onto the handle. Attaching foam tubing, available from home health care catalogs, is also helpful. Try other toothbrush options. A power toothbrush might make brushing easier. Some people may find that it takes time to get used to a power toothbrush. A floss holder can make it easier to hold the dental floss. Also, talk with your dentist about whether an oral irrigation system, special small brushes, or other instruments that clean between teeth are right for you. Be sure to check with your dentist, though, before using any of these methods since they may injure the gums if used improperly.
ALSP is thought to be a rare disorder, although the prevalence is unknown. Because it can be mistaken for other disorders with similar symptoms, ALSP may be underdiagnosed.
These resources address the diagnosis or management of congenital insensitivity to pain: - Genetic Testing Registry: Indifference to pain, congenital, autosomal recessive 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
Your bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains immature cells, called stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. Many of them die in the bone marrow. This means that you do not have enough healthy cells, which can lead to infection, anemia, or easy bleeding. Myelodysplastic syndromes often do not cause early symptoms and are sometimes found during a routine blood test. If you have symptoms, they may include - Shortness of breath - Weakness or feeling tired - Skin that is paler than usual - Easy bruising or bleeding - Pinpoint spots under the skin caused by bleeding - Fever or frequent infections Myelodysplastic syndromes are rare. People at higher risk are over 60, have had chemotherapy or radiation therapy, or have been exposed to certain chemicals. Treatment options include transfusions, drug therapy, chemotherapy, and blood or bone marrow stem cell transplants. NIH: National Cancer Institute
How might brittle diabetes be treated? The approach to management depends upon the underlying cause. General management strategies include diabetes education, frequent self-monitoring of blood glucose, the use of a continuous subcutaneous insulin pump in conjunction with a continuous glucose monitoring device, and, in rare cases, pancreas transplantation. Psychotherapy or working with a psychiatrist or psychologist is recommended for many people with brittle diabetes. Referral to a specialty center may be warranted in certain situations.
There are several known variants of Creutzfeldt-Jakob disease (CJD). These variants differ somewhat in the symptoms and course of the disease. For example, a variant form of the disease-called new variant or variant (nv-CJD, v-CJD), described in Great Britain and France, begins primarily with psychiatric symptoms, and has a longer than usual duration from onset of symptoms to death. New variant CJD accounts for less than 1% of cases, and tends to affect younger people. It can result when someone is exposed to contaminated products. While classic CJD is not related to mad cow disease, new variant CJD (nvCJD) is an infectious form that is related to mad cow disease. The infection responsible for the disease in cows (bovine spongiform encephalitis) is believed to be the same one responsible for vCJD in humans. There have not been any cases of nvCJD reported in the U.S. Another variant, called the panencephalopathic form, occurs primarily in Japan and has a relatively long course, with symptoms often progressing for several years. Scientists are trying to gain a better understanding about what causes these variations in the symptoms and course of the disease.
How is polymyositis diagnosed? A diagnosis of polymyositis is often suspected in people with proximal muscle weakness and other associated signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. This testing may include: Blood tests to measure the levels of certain muscle enzymes (i.e. creatine kinase and aldolase) and detect specific autoantibodies associated with different symptoms of polymyositis Electromyography to check the health of the muscles and the nerves that control them Imaging studies such as an MRI scan to detect muscle inflammation A muscle biopsy to diagnose muscle abnormalities such as inflammation, damage and/or infection Medscape Reference's Web site offers more specific information regarding the treatment and management of polymyositis. Please click on the link to access this resource.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to porencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research explores the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies will provide a foundation for developing ways to prevent porecephaly and the other cephalic disorders.
What causes congenitally corrected transposition of the great arteries? Currently the cause of congenitally corrected transposition of the great arteries is not known. Limited data suggests that air pollutants and hair dye may act as environmental risk factors for this rare defect. Also, having a family history of this heart defect is a risk factor. It has been estimated that the recurrence risk in siblings is around 3% to 5%.
Warsaw breakage syndrome is a condition that can cause multiple abnormalities. People with Warsaw breakage syndrome have intellectual disability that varies from mild to severe. They also have impaired growth from birth leading to short stature and a small head size (microcephaly). Affected individuals have distinctive facial features that may include a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks. Other common features include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) and heart malformations.
Glaucoma is a group of diseases that can damage the eye's optic nerve. It is a leading cause of blindness in the United States. It usually happens when the fluid pressure inside the eyes slowly rises, damaging the optic nerve. Often there are no symptoms at first. Without treatment, people with glaucoma will slowly lose their peripheral, or side vision. They seem to be looking through a tunnel. Over time, straight-ahead vision may decrease until no vision remains. A comprehensive eye exam can tell if you have glaucoma. People at risk should get eye exams at least every two years. They include - African Americans over age 40 - People over age 60, especially Mexican Americans - People with a family history of glaucoma There is no cure, but glaucoma can usually be controlled. Early treatment can help protect your eyes against vision loss. Treatments usually include prescription eyedrops and/or surgery. NIH: National Eye Institute
Tracheobronchopathia osteoplastica (TO) is a rare condition of the large airways. It is characterized by the presence of multiple growths (nodules) made of bone and cartilage tissue, in the submucosa of the tracheobronchial wall. The nodules protrude into the spaces inside the trachea and bronchi, which can lead to airway obstruction. Affected people may have persisting or recurrent respiratory symptoms, and/or recurrent infections. The cause of TO is not currently known. There is no specific treatment to prevent the formation of nodules. Laser therapy or removal of the nodules may be needed in some cases.
Glutamate formiminotransferase deficiency is an inherited disorder that affects physical and mental development. There are two forms of this condition, which are distinguished by the severity of symptoms. People with the mild form of glutamate formiminotransferase deficiency have minor delays in physical and mental development and may have mild intellectual disability. They also have unusually high levels of a molecule called formiminoglutamate (FIGLU) in their urine. Individuals affected by the severe form of this disorder have profound intellectual disability and delayed development of motor skills such as sitting, standing, and walking. In addition to FIGLU in their urine, they have elevated amounts of certain B vitamins (called folates) in their blood. The severe form of glutamate formiminotransferase deficiency is also characterized by megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The symptoms of this blood disorder may include decreased appetite, lack of energy, headaches, pale skin, and tingling or numbness in the hands and feet.
Juvenile arthritis (JA) is arthritis that happens in children. It causes joint swelling, pain, stiffness, and loss of motion. It can affect any joint, but is more common in the knees, hands, and feet. In some cases it can affect internal organs as well. The most common type of JA that children get is juvenile idiopathic arthritis. There are several other forms of arthritis affecting children. One early sign of JA may be limping in the morning. Symptoms can come and go. Some children have just one or two flare-ups. Others have symptoms that never go away. JA can cause growth problems and eye inflammation in some children. No one knows exactly what causes JA. Most types are autoimmune disorders. This means that your immune system, which normally helps your body fight infection, attacks your body's own tissues. JA can be hard to diagnose. Your health care provider may do a physical exam, lab tests, and x-rays. A team of providers usually treats JA. Medicines and physical therapy can help maintain movement and reduce swelling and pain. They may also help prevent and treat complications. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
The adrenal glands are small glands located on top of each kidney. They produce hormones that you can't live without, including sex hormones and cortisol. Cortisol helps you respond to stress and has many other important functions. With adrenal gland disorders, your glands make too much or not enough hormones. In Cushing's syndrome, there's too much cortisol, while with Addison's disease, there is too little. Some people are born unable to make enough cortisol. Causes of adrenal gland disorders include - Genetic mutations - Tumors including pheochromocytomas - Infections - A problem in another gland, such as the pituitary, which helps to regulate the adrenal gland - Certain medicines Treatment depends on which problem you have. Surgery or medicines can treat many adrenal gland disorders. NIH: National Institute of Child Health and Human Development
Overweight and obesity affect Americans of all ages, sexes, and racial/ethnic groups. This serious health problem has been growing over the last 30 years. Adults According to the National Health and Nutrition Examination Survey (NHANES) 20092010, almost 70 percent of Americans are overweight or obese. The survey also shows differences in overweight and obesity among racial/ethnic groups. In women, overweight and obesity are highest among non-Hispanic Black women (about 82percent), compared with about 76 percent for Hispanic women and 64 percent for non-Hispanic White women. In men, overweight and obesity are highest among Hispanic men (about 82percent), compared with about 74 percent for non-Hispanic White men and about 70 percent for non-Hispanic Black men. Children and Teens Children also have become heavier. In the past 30 years, obesity has tripled among school-aged children and teens. According to NHANES 20092010, about 1 in 6 American children ages 219 are obese. The survey also suggests that overweight and obesity are having a greater effect on minority groups, including Blacks and Hispanics.
What causes primrose syndrome? The cause of primrose syndrome is currently unknown. Cases of affected males and a affected female have been reported in the literature. All cases seem to be sporadic. Sporadic refers to either a genetic disorder that occurs for the first time in a family due to a new mutation or the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family.
Mutations in the ALX3 gene cause frontonasal dysplasia type 1, ALX4 gene mutations cause type 2, and ALX1 gene mutations cause type 3. These genes provide instructions for making proteins that are necessary for normal development, particularly of the head and face, before birth. The proteins produced from the ALX3, ALX4, and ALX1 genes are transcription factors, which means they attach (bind) to DNA and control the activity of certain genes. Specifically, the proteins control the activity of genes that regulate cell growth and division (proliferation) and movement (migration), ensuring that cells grow and stop growing at specific times and that they are positioned correctly during development. The ALX3 and ALX4 proteins are primarily involved in the development of the nose and surrounding tissues, while the ALX1 protein is involved in development of the eyes, nose, and mouth. ALX3, ALX4, or ALX1 gene mutations reduce or eliminate function of the respective protein. As a result, the regulation of cell organization during development of the head and face is disrupted, particularly affecting the middle of the face. Abnormal development of the nose, philtrum, and upper lip leads to the facial clefts that characterize this disorder. This abnormal development also interferes with the proper formation of the skull and other facial structures, leading to anterior cranium bifidum occultum, hypertelorism, and other features of frontonasal dysplasia.
The exact incidence of this condition is unknown, but it is estimated to affect 1 in 87,000 people.
A blood test will show if you have hepatitis B. Blood tests are done at a doctors office or outpatient facility. A blood sample is taken using a needle inserted into a vein in your arm or hand. The blood sample is sent to a lab to test for hepatitis B. If you are at higher risk of getting hepatitis B, get tested. If you are pregnant, you should also get tested. Many people with hepatitis B do not know they are infected. Early diagnosis and treatment can help prevent liver damage. Your doctor may suggest getting a liver biopsy if chronic hepatitis B is suspected. A liver biopsy is a test to take a small piece of your liver to look for liver damage. The doctor may ask you to stop taking certain medicines before the test. You may be asked to fast for 8 hours before the test. During the test, you lie on a table with your right hand resting above your head. Medicine is applied to numb the area where the biopsy needle will be inserted. If needed, sedatives and pain medicine are also given. The doctor uses a needle to take a small piece of liver tissue. After the test, you must lie on your right side for up to 2 hours. You will stay 2 to 4 hours after the test before being sent home. A liver biopsy is performed at a hospital or outpatient center by a doctor. The liver tissue is sent to a special lab where a doctor looks at the tissue with a microscope and sends a report to your doctor.
Nicolaides-Baraitser syndrome (NCBRS) is a very rare condition characterized by severe intellectual disability and various physical features. Signs and symptoms may include seizures, short stature, sparse hair, distinctive facial characteristics, short fingers and toes (brachydactyly), and prominent joints in the fingers and toes (interphalangeal joints). Features of the condition can worsen over time. NCBRS is caused by changes (mutations) in the SMARCA2 gene and is inherited in an autosomal dominant manner. All cases reported to date have been sporadic, occurring in people with no family history of NCBRS.
KTS is often a progressive disorder, and complications may be life-threatening. However, many individuals can live well while managing their symptoms.
- Hemochromatosis is the most common form of iron overload disease. Too much iron in the body causes hemochromatosis. - Inherited genetic defects cause primary hemochromatosis. - Primary hemochromatosis mainly affects Caucasians of Northern European descent. - A person with hemochromatosis may notice one or more of the following symptoms: joint pain; fatigue, or feeling tired; unexplained weight loss; abnormal bronze or gray skin color; abdominal pain; and loss of sex drive. Not everyone with hemochromatosis will develop these symptoms. - Without treatment, iron may build up in the organs and cause complications, including cirrhosis, diabetes, irregular heart rhythms or weakening of the heart muscle, arthritis, and erectile dysfunction. - If a health care provider diagnoses and treats the iron overload caused by hemochromatosis before organ damage has occurred, a person can live a normal, healthy life. - Experts recommend testing for hemochromatosis in people who have symptoms, complications, or a family history of the disease. - Health care providers treat hemochromatosis by drawing blood. This process is called phlebotomy.
What are the signs and symptoms of Diabetes mellitus type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Diabetes mellitus type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the immune system - Diabetes mellitus - Heterogeneous - Hyperglycemia - Ketoacidosis - Polydipsia - Polyphagia - Polyuria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
CHOPS syndrome is a rare disorder whose prevalence is unknown. Only a few affected individuals have been described in the medical literature.
Restless legs syndrome (RLS) causes a powerful urge to move your legs. Your legs become uncomfortable when you are lying down or sitting. Some people describe it as a creeping, crawling, tingling, or burning sensation. Moving makes your legs feel better, but not for long. RLS can make it hard to fall asleep and stay asleep. In most cases, there is no known cause for RLS. In other cases, RLS is caused by a disease or condition, such as anemia or pregnancy. Some medicines can also cause temporary RLS. Caffeine, tobacco, and alcohol may make symptoms worse. Lifestyle changes, such as regular sleep habits, relaxation techniques, and moderate exercise during the day can help. If those don't work, medicines may reduce the symptoms of RLS. Most people with RLS also have a condition called periodic limb movement disorder (PLMD). PLMD is a condition in which a person's legs twitch or jerk uncontrollably, usually during sleep. PLMD and RLS can also affect the arms. NIH: National Heart, Lung, and Blood Institute
Osteoporosis-pseudoglioma syndrome is a rare disorder that occurs in approximately 1 in 2 million people.
What causes transposition of the great arteries (TGA)? The exact cause of TGA remains unknown. Some possible associated risk factors that have been proposed include gestational diabetes mellitus, maternal exposure to rodenticides and herbicides, and maternal use of anti-epileptic drugs. Changes (mutations) in specific genes including the GDF1, CFC1 and MED13L (also called THRAP2) genes have been implicated in only a small minority of TGA cases.
These resources address the diagnosis or management of congenital neuronal ceroid lipofuscinosis: - Genetic Testing Registry: Neuronal ceroid lipofuscinosis, congenital 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
Is genetic testing available for Pierson syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Pierson syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. According to the GTR, genetic testing for Pierson syndrome may be available for diagnosis in a person suspected of having the condition, carrier testing, and prenatal testing.
GABA (gamma-aminobutyric acid) is an important molecule which slows down the activity of cells in the brain.[1] GABA is broken down in the body by a substance known as 4-aminobutyrate aminotransferase, also known as GABA-transaminase or GABA-T.[1] Mutations in the ABAT gene can cause less GABA-T to be made, a condition known as GABA-T deficiency.[1] The symptoms for an individual with GABA-T deficiency can include: psychomotor retardation (a slowing down of thought and activity), low muscle tone, hyperactive responses, lethargy, seizures, and EEG abnormalities.[1] GABA-T deficiency is very rare, with fewer than 5 cases reported in the literature.[2] It is thought to be inherited in an autosomal recessive manner.[3][4]
Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. This disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms begin in early childhood and progress over a period of 15 to 20 years. Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. It is inherited in an autosomal recessive pattern.
Most cases of atypical hemolytic-uremic syndrome are sporadic, which means that they occur in people with no apparent history of the disorder in their family. Less than 20 percent of all cases have been reported to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to increase the risk of the disorder. In some cases, an affected person inherits the mutation from one affected parent. However, most people with the autosomal dominant form of atypical hemolytic-uremic syndrome have no history of the disorder in their family. Because not everyone who inherits a gene mutation will develop the signs and symptoms of the disease, an affected individual may have unaffected relatives who carry a copy of the mutation. Autosomal recessive inheritance means both copies of a 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.
These resources address the diagnosis or management of ring chromosome 14 syndrome: - Genetic Testing Registry: Ring chromosome 14 - MedlinePlus Encyclopedia: Chromosome 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
Ornithine transcarbamylase (OTC) deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. The signs and symptoms of OTC deficiency may include development delay, intellectual disability and liver problems. It is caused by changes (mutations) in the OTC gene. OTC deficiency is inherited as an X-linked condition. Treatment consists of not eating protein, taking certain medications and having hemodialysis, if needed.
Adenoid cystic carcinoma (ACC) is a rare form of adenocarcinoma, which is cancer that begins in gladular tissues. ACC most commonly arises in the head and neck, in various parts of the major and minor salivary glands including the palate, nasopharynx, lining of the mouth, voice box (larynx) or windpipe (trachea). It can also occur in the breast, uterus, or other locations in the body. Early symptoms depend on the tumor's location and may include lumps under the lining of the mouth or facial skin; numbness in the mouth or face; difficulty swallowing; hoarseness; pain; or paralysis of a facial nerve. ACC often has long periods with no growth followed by growth spurts; however, it can be aggressive in some people. ACC spreads along nerves or through the bloodstream, and only spreads to the lymph nodes in about 5-10% of cases. The cause of ACC is currently unknown. Treatment depends on many factors and may include surgery, radiation, and/or chemotherapy.
Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. Most also have early-onset joint pain (osteoarthritis) and joint deformities called contractures, which restrict movement. These joint problems often make it difficult to walk and tend to worsen with age. Additional features of diastrophic dysplasia include an inward- and upward-turning foot (clubfoot), progressive abnormal curvature of the spine, and unusually positioned thumbs (hitchhiker thumbs). About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth (a cleft palate). Swelling of the external ears is also common in newborns and can lead to thickened, deformed ears. The signs and symptoms of diastrophic dysplasia are similar to those of another skeletal disorder called atelosteogenesis type 2; however, diastrophic dysplasia tends to be less severe. Although some affected infants have breathing problems, most people with diastrophic dysplasia live into adulthood.
Mucolipidosis III alpha/beta is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide.
A UTI is an infection in the urinary tract. Infections are caused by microbesorganisms too small to be seen without a microscopeincluding fungi, viruses, and bacteria. Bacteria are the most common cause of UTIs. Normally, bacteria that enter the urinary tract are rapidly removed by the body before they cause symptoms. However, sometimes bacteria overcome the bodys natural defenses and cause infection. An infection in the urethra is called urethritis. A bladder infection is called cystitis. Bacteria may travel up the ureters to multiply and infect the kidneys. A kidney infection is called pyelonephritis.
With botulinum toxin treatment most individuals with BEB have substantial relief of symptoms. Although some may experience side effects such as drooping eyelids, blurred or double vision, and eye dryness, these side effects are usually only temporary. The condition may worsen or expand to surrounding muscles; remain the same for many years; and, in rare cases, improve spontaneously.
Our senses of taste and smell give us great pleasure. Taste helps us enjoy food and beverages. Smell lets us enjoy the scents and fragrances like roses or coffee. Taste and smell also protect us, letting us know when food has gone bad or when there is a gas leak. They make us want to eat, ensuring we get the nutrition we need. People with taste disorders may taste things that aren't there, may not be able to tell the difference in tastes, or can't taste at all. People with smell disorders may lose their sense of smell, or things may smell different. A smell they once enjoyed may now smell bad to them. Many illnesses and injuries can cause taste and smell disorders, including colds and head injuries. Some drugs can also affect taste and smell. Most people lose some ability to taste and smell as they get older. Treatment varies, depending on the problem and its cause. NIH: National Institute on Deafness and Other Communication Disorders
Autoimmune polyglandular syndrome type 1 is an inherited autoimmune condition that affects many of the body's organs. Symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, and many have all three. This syndrome can cause a variety of additional signs and symptoms, although they occur less often. Complications of this disorder can affect the skin and nails, the gonads (ovaries and testicles), the eyes, the thyroid, and the digestive system. Type 1 diabetes also occurs in some patients with this condition. Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1. This condition is inherited in an autosomal recessive fashion.
Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement. Often the first symptom of Parkinson disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time. Parkinson disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory. Generally, Parkinson disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson disease.
This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males, or it may cause no symptoms at all. Some females who have one altered copy of the GPC3 gene have distinctive facial features including an upturned nose, a wide mouth, and a prominent chin. Their fingernails may be malformed and they can have extra nipples. Skeletal abnormalities, including extra spinal bones (vertebrae), are also possible in affected females. Other females who carry one altered copy of the GPC3 gene do not have these features or any other medical problems associated with Simpson-Golabi-Behmel syndrome.
These resources address the diagnosis or management of myotonic dystrophy: - Gene Review: Gene Review: Myotonic Dystrophy Type 1 - Gene Review: Gene Review: Myotonic Dystrophy Type 2 - Genetic Testing Registry: Myotonic dystrophy type 2 - Genetic Testing Registry: Steinert myotonic dystrophy syndrome - MedlinePlus Encyclopedia: Muscular Dystrophy - University of Washington: Myotonic Dystrophy: Making an Informed Choice About Genetic Testing 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
What are the signs and symptoms of Cone-rod dystrophy 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy 6. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Childhood onset - Cone/cone-rod dystrophy - Peripheral visual field loss - Reduced visual acuity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of mitochondrial genetic disorders? People with mitochondrial genetic disorders can present at any age with almost any affected body system. While some conditions may only affect a single organ, many involve multiple organ systems including the brain, muscles, heart, liver, nerves, eyes, ears and/or kidneys. Symptom severity can also vary widely. The most common signs and symptoms include: Poor growth Loss of muscle coordination Muscle weakness Seizures Autism Problems with vision and/or hearing Developmental delay Learning disabilities Heart, liver, and/or kidney disease Gastrointestinal disorders Diabetes Increased risk of infection Thyroid and/or adrenal abnormalities Autonomic dysfunction Dementia The United Mitochondrial Disease Foundation's website features a comprehensive list of possible symptoms (click here to see this information) and symptoms categorized by type of mitochondrial genetic disorder (click here to access this page).
These resources address the diagnosis or management of 3-M syndrome: - Gene Review: Gene Review: 3-M Syndrome - Genetic Testing Registry: Three M syndrome 1 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
Mutations in the VPS13A gene cause chorea-acanthocytosis. The VPS13A gene provides instructions for producing a protein called chorein; the function of this protein in the body is unknown. Some researchers believe that chorein plays a role in the movement of proteins within cells. Most VPS13A gene mutations lead to the production of an abnormally small, nonfunctional version of chorein. The VPS13A gene is active (expressed) throughout the body; it is unclear why mutations in this gene affect only the brain and red blood cells.
In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence because the disorder is very rare in the general population. This condition is much more common in the Old Order Amish population of Lancaster County, Pennsylvania, and in the indigenous (native) population of Western Australia.
Mutations in the EXT1 and EXT2 genes cause hereditary multiple osteochondromas. The EXT1 gene and the EXT2 gene provide instructions for producing the proteins exostosin-1 and exostosin-2, respectively. The two exostosin proteins bind together and form a complex found in a cell structure called the Golgi apparatus, which modifies newly produced enzymes and other proteins. In the Golgi apparatus, the exostosin-1 and exostosin-2 complex modifies a protein called heparan sulfate so it can be used by the cell. When there is a mutation in exostosin-1 or exostosin-2, heparan sulfate cannot be processed correctly and is nonfunctional. Although heparan sulfate is involved in many bodily processes, it is unclear how the lack of this protein contributes to the development of osteochondromas. If the condition is caused by a mutation in the EXT1 gene it is called hereditary multiple osteochondromas type 1. A mutation in the EXT2 gene causes hereditary multiple osteochondromas type 2. While both type 1 and type 2 involve multiple osteochondromas, mutations in the EXT1 gene likely account for 55 to 75 percent of all cases of hereditary multiple osteochondromas, and the severity of symptoms associated with osteochondromas seems to be greater in type 1. Researchers estimate that about 15 percent of people with hereditary multiple osteochondromas have no mutation in either the EXT1 or the EXT2 gene. It is not known why multiple osteochondromas form in these individuals.
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 head louse, or Pediculus humanus capitis, is a parasitic insect that can be found on the head, eyebrows, and eyelashes of people. Head lice feed on human blood several times a day and live close to the human scalp. Head lice are not known to spread disease.
The prevalence of campomelic dysplasia is uncertain; estimates range from 1 in 40,000 to 200,000 people.
How might gray zone lymphoma be treated? Gray zone lymphoma shares features with two other types of lymphoma, classical Hodgkin lymphoma (cHL) and mediastinal large B-cell lymphoma (MLBCL). Because MLBCL and cHL are treated differently, it is unclear how gray zone lymphoma should be treated. At this time, there are no guidelines for the best treatment of gray zone lymphoma; treatment is determined based on each individual's diagnosis. Treatment usually begins with chemotherapy, which may be followed by radiation therapy in some cases.
GPI deficiency is caused by mutations in the GPI gene, which provides instructions for making an enzyme called glucose phosphate isomerase (GPI). This enzyme has two distinct functions based on its structure. When two GPI molecules form a complex (a homodimer), the enzyme plays a role in a critical energy-producing process known as glycolysis, also called the glycolytic pathway. During glycolysis, the simple sugar glucose is broken down to produce energy. Specifically, GPI is involved in the second step of the glycolytic pathway; in this step, a molecule called glucose-6-phosphate is converted to another molecule called fructose-6-phosphate. When GPI remains a single molecule (a monomer) it is involved in the development and maintenance of nerve cells (neurons). In this context, it is often known as neuroleukin (NLK). Some GPI gene mutations may result in a less stable homodimer, impairing the activity of the enzyme in the glycolytic pathway. The resulting imbalance of molecules involved in the glycolytic pathway eventually impairs the ability of red blood cells to maintain their structure, leading to hemolysis. Other GPI gene mutations may cause the monomer to break down more easily, thereby interfering with its function in nerve cells. In addition, the shortage of monomers hinders homodimer formation, which impairs the glycolytic pathway. These mutations have been identified in individuals with GPI deficiency who have both hemolytic anemia and neurological problems.
Signs and symptoms of childhood AML, childhood CML, JMML, or MDS include fever, feeling tired, and easy bleeding or bruising. These and other signs and symptoms may be caused by childhood AML, childhood CML, JMML, or MDS or by other conditions. Check with a doctor if your child has any of the following: - Fever with or without an infection. - Night sweats. - Shortness of breath. - Weakness or feeling tired. - Easy bruising or bleeding. - Petechiae (flat, pinpoint spots under the skin caused by bleeding). - Pain in the bones or joints. - Pain or feeling of fullness below the ribs. - Painless lumps in the neck, underarm, stomach, groin, or other parts of the body. In childhood AML, these lumps, called leukemia cutis, may be blue or purple. - Painless lumps that are sometimes around the eyes. These lumps, called chloromas, are sometimes seen in childhood AML and may be blue-green. - An eczema -like skin rash. The signs and symptoms of TMD may include the following: - Swelling all over the body. - Shortness of breath. - Trouble breathing. - Weakness or feeling tired. - Pain below the ribs.

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