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What causes Camurati-Engelmann disease? Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGF-1). The TGF-1 protein helps control the growth and division (proliferation) of cells, the process by which cell...
The main symptoms of viral gastroenteritis are - watery diarrhea - vomiting Other symptoms include - headache - fever - chills - abdominal pain Symptoms usually appear within 12 to 48 hours after exposure to a gastroenteritis-causing virus and last...
Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that affects the sensory nerve cells. These cells, which are also called sensory neurons, transmit information about sensations such as pain, temperature, and touch. Signs and symptoms of the condition generally develop at birth or during early i...
These resources address the diagnosis or management of congenital hypothyroidism: - Baby's First Test - Genetic Testing Registry: Congenital hypothyroidism - Genetic Testing Registry: Hypothyroidism, congenital, nongoitrous, 1 - MedlinePlus Encyclopedia: Congenital Hypothyroidism These resources from MedlinePlus ...
Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina. This reduces the blood supply to retina. The sig...
Alternating hemiplegia of childhood is a rare condition that affects approximately 1 in 1 million people.
What causes mixed connective tissue disease? The exact underlying cause of mixed connective tissue disease (MCTD) is currently unknown. It is an autoimmune disorder, which means the immune system mistakes normal, healthy cells for those that that body should "fight off." There are ongoing studies exploring how immune s...
Your shoulder joint is composed of three bones: the clavicle (collarbone), the scapula (shoulder blade), and the humerus (upper arm bone). Your shoulders are the most movable joints in your body. They can also be unstable because the ball of the upper arm is larger than the shoulder socket that holds it. To remain in a...
Your pituitary gland is a pea-sized gland at the base of your brain. The pituitary is the "master control gland" - it makes hormones that affect growth and the functions of other glands in the body. With pituitary disorders, you often have too much or too little of one of your hormones. Injuries can cause pituitary...
This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t...
The prevalence of autosomal dominant hypocalcemia is unknown. The condition is likely underdiagnosed because it often causes no signs or symptoms.
In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. A few people with Alagille syndrome have mutations in a different gene, called NOTCH2. The J...
NASH is usually a silent disease with few or no symptoms. Patients generally feel well in the early stages and only begin to have symptomssuch as fatigue, weight loss, and weaknessonce the disease is more advanced or cirrhosis develops. The progression of NASH can take years, even decades. The process can stop and, in ...
There is no standard course of treatment for Sotos syndrome. Treatment is symptomatic.
Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Is...
Children with early infantile GM1 often die by age 3 from cardiac complications or pneumonia. Children with the early-onset form of Tay-Sachs disease may eventually need a feeding tube and often die by age 4 from recurring infection. Children with Sandhoff disease generally die by age 3 from respiratory infections.
There are four major blood types: A, B, O, and AB. The types are based on substances on the surface of the blood cells. Another blood type is called Rh. Rh factor is a protein on red blood cells. Most people are Rh-positive; they have Rh factor. Rh-negative people don't have it. Rh factor is inherited though genes. ...
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.
Birthmarks are abnormalities of the skin that are present when a baby is born. There are two types of birthmarks. Vascular birthmarks are made up of blood vessels that haven't formed correctly. They are usually red. Two types of vascular birthmarks are hemangiomas and port-wine stains. Pigmented birthmarks are made of ...
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 lymphocyti...
A defect in the CFTR gene causes cystic fibrosis (CF). This gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have CF, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat. Research suggests ...
Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs. Sometimes there is a mut...
If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage your nerves or blood vessels. Nerve damage from diabetes can cause you to lose feeling in your feet. You may not feel a cut, a blister or a sore. Foot injuries such as these can cause ulcers and infections. Serious...
What are the signs and symptoms of Roch-Leri mesosomatous lipomatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Roch-Leri mesosomatous lipomatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use...
Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. Nervous s...
These resources address the diagnosis or management of EA/TEF: - Boston Children's Hospital: Esophageal Atresia - Children's Hospital of Wisconsin - Gene Review: Gene Review: Esophageal Atresia/Tracheoesophageal Fistula Overview - Genetic Testing Registry: Tracheoesophageal fistula - MedlinePlus Encyclopedia: Trac...
The prognosis for CRPS varies from person to person. Spontaneous remission from symptoms occurs in certain individuals. Others can have unremitting pain and crippling, irreversible changes in spite of treatment.
Most cases of anencephaly are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. For parents who have had a child with anencephaly, the risk of...
Mutations in the SMOC1 gene cause ophthalmo-acromelic syndrome. The SMOC1 gene provides instructions for making a protein called secreted modular calcium-binding protein 1 (SMOC-1). This protein is found in basement membranes, which are thin, sheet-like structures that support cells in many tissues and help anchor cell...
Many patients experience complete to near-complete relief of symptoms following physician-supervised medical treatment. Paroxysmal hemicrania may last indefinitely but has been known to go into remission or stop spontaneously.
Cone-rod dystrophy 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 symptoms of the condition. Les...
Exercising is good for you, but sometimes you can injure yourself when you play sports or exercise. Accidents, poor training practices, or improper gear can cause them. Some people get hurt because they are not in shape. Not warming up or stretching enough can also lead to injuries. The most common sports injuries ...
48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typica...
What are the signs and symptoms of juvenile amyotrophic lateral sclerosis? Signs and symptoms of juvenile ALS vary but include slowly to very slowly progressive muscle weakness, increased muscle tone, Babinski reflex, muscle spasm (clonus), exaggerated reflexes, muscle wasting, and muscle twitching. Juvenile ALS usuall...
Summary : Mercury is an element that is found in air, water and soil. It has several forms. Metallic mercury is a shiny, silver-white, odorless liquid. If heated, it is a colorless, odorless gas. It also combines with other elements to form powders or crystals. Mercury is in many products. Metallic mercury is used in g...
These resources address the diagnosis or management of enlarged parietal foramina: - Gene Review: Gene Review: Enlarged Parietal Foramina - Genetic Testing Registry: Parietal foramina - Genetic Testing Registry: Parietal foramina 1 - Genetic Testing Registry: Parietal foramina 2 - MedlinePlus Encyclopedia: Skull o...
Women whose ovaries produce inadequate estrogen are at increased risk for osteoporosis. Hyperprolactinemia can reduce estrogen production. Although estrogen production may be restored after treatment for hyperprolactinemia, even a year or 2 without estrogen can compromise bone strength. Women should protect themselves ...
Is Russell-Silver syndrome inherited? Most cases of Russell-Silver syndrome (RSS) are sporadic (not inherited), which means they occur in people with no family history of RSS. Less commonly, Russell-Silver syndrome is inherited. In some families, it appears to be inherited in an autosomal dominant manner. This means th...
Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cer...
Gorlin syndrome affects an estimated 1 in 31,000 people. While more than 1 million new cases of basal cell carcinoma are diagnosed each year in the United States, fewer than 1 percent of these skin cancers are related to Gorlin syndrome.
Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from the choroid (the blood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Sign...
Diarrhea is loose, watery stools. Chronic, or long lasting, diarrhea typically lasts for more than 4 weeks. Children with chronic diarrhea may have loose, watery stools continually, or diarrhea may come and go. Chronic diarrhea may go away without treatment, or it may be a symptom of a chronic disease or disorder. Trea...
How is microhydranencephaly diagnosed? A diagnosis of microhydranencephaly is generally suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies to evaluate the brain for structural abnormalities and...
What are the signs and symptoms of Hooft disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hooft disease. 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 loo...
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.
Triple A syndrome is a rare condition, although its exact prevalence is unknown.
Bronchiolitis obliterans is an inflammatory obstruction of the lung's tiniest airways, the bronchioles. The bronchioles may become damaged and inflamed after inhalation of toxic fumes, as a result of respiratory infections, in association with connective tissue disorders, or after bone marrow or heart-lung transplants....
Heart defects are the most common type of birth defect, accounting for more than 30 percent of all infant deaths due to birth defects. CCHD represents some of the most serious types of heart defects. About 7,200 newborns, or 18 per 10,000, in the United States are diagnosed with CCHD each year.
What causes Marden-Walker syndrome? The underlying cause of Marden-Walker syndrome has not been clearly established. It appears to be a developmental disorder of the central nervous system and is likely to be the expression of various heterogeneous diseases.
COPD is a disease that slowly worsens over time, especially if you continue to smoke. If you have COPD, you are more likely to have lung infections, which can be fatal. If the lungs are severely damaged, the heart may be affected. A person with COPD dies when the lungs and heart are unable to function and get oxygen to...
The primary treatment for ARD is to restrict or avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Some individuals may also require plasma exchange (plasmapheresis) in which blood is drawn, filtered, and reinfused back into the body, to contr...
Factor V deficiency is a rare bleeding disorder. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor V deficiency commonly causes nosebleeds; easy bruising; bleeding under the skin; bleeding of the gums; and prolonged or excessive bleeding foll...
Spinocerebellar ataxia 15 (SCA15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and balance, speech and swallowing difficulties. The onset of symptoms typically occurs between ages 7 and 66 years. The ability to walk independe...
How is beta-thalassemia inherited? Beta-thalassemia major and beta-thalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the HBB gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and...
Syndromes of which congenital hepatic fibrosis is a feature may be caused by changes in many different genes. The gene changes that cause isolated congenital hepatic fibrosis are unknown. Congenital hepatic fibrosis is caused by problems in the development of the portal veins and bile ducts. These problems include mal...
These resources address the diagnosis or management of SCAD deficiency: - Baby's First Test - Gene Review: Gene Review: Short-Chain Acyl-CoA Dehydrogenase Deficiency - Genetic Testing Registry: Deficiency of butyryl-CoA dehydrogenase - MedlinePlus Encyclopedia: Newborn Screening Tests These resources from Medline...
These resources address the diagnosis or management of microphthalmia with linear skin defects syndrome: - Gene Review: Gene Review: Microphthalmia with Linear Skin Defects Syndrome - Genetic Testing Registry: Microphthalmia, syndromic, 7 These resources from MedlinePlus offer information about the diagnosis and ma...
Signs and symptoms of atypical chronic myelogenous leukemia include easy bruising or bleeding and feeling tired and weak. These and other signs and symptoms may be caused by atypical CML or by other conditions. Check with your doctor if you have any of the following: - Shortness of breath. - Pale skin. - ...
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited disease of the blood vessels that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects the small blood vessels in the white matter of the...
Lupus is an autoimmune disease that can affect almost every organ in the body. Symptoms of lupus can range from very mild to life-threatening. There are three types of lupus; systemic lupus erythematosus, discoid lupus, and drug-induced lupus. Genetics is thought to play a role in the development of lupus along with ot...
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.
These resources address the diagnosis or management of LCHAD deficiency: - Baby's First Test - Genetic Testing Registry: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - MedlinePlus Encyclopedia: Hypoglycemia - MedlinePlus Encyclopedia: Peripheral Neuropathy These resources from MedlinePlus offer informati...
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the largest supporter of biomedic...
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support dyslexia research through grants to major research institutions across the country. Current research avenues focus on developing techniques to diagnose and treat dyslexia and other...
Presbycusis is common in older adults. Presbycusis comes on gradually as a person ages and mostly affects people over 50. Doctors do not know why presbycusis happens, but it seems to run in families. Presbycusis may make it hard for a person to tolerate loud sounds or to hear what others are saying. This type of hearin...
These resources address the diagnosis or management of Weyers acrofacial dysostosis: - Genetic Testing Registry: Curry-Hall syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation -...
Summary : Severe winter weather can lead to health and safety challenges. You may have to cope with - Cold related health problems, including frostbite and hypothermia - Household fires and carbon monoxide poisoning from space heaters and fireplaces - Unsafe driving conditions from icy roads - Power fai...
Juvenile spondyloarthropathy refers to a group of rheumatic diseases that develop during childhood and are characterized by inflammation of the entheses (the regions where tendons or ligaments attach to bones) and joints. The joints of the lower extremities are generally affected first followed by the sacroiliac joints...
C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. C1q is a normal protein in the immune system, and can be found floating in the circulation of most healthy people. In C1q nephropathy, however, this protein ...
Summary : Medicaid is government health insurance that helps many low-income people in the United States to pay their medical bills. The Federal government sets up general guidelines for the program, but each state has its own rules. Your state might require you to pay a part of the cost for some medical services. ...
Summary : How well you and your doctor communicate with each other is one of the most important parts of getting good health care. Being prepared can help make the most of your visit. Here are some things you can bring: - Lists of your concerns, any allergies and all the medicines, herbs, or vitamins you take ...
Treatment of Dyssynergia Cerebellaris Myoclonica is symptomatic. Myoclonus and seizures may be treated with drugs like valproate.
About 70 percent of all cases of hypochondroplasia are caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Although it remains unclear how FGFR3 mutations lead to the features of hypochondroplasia, rese...
These resources address the diagnosis or management of 15q24 microdeletion: - Gene Review: Gene Review: 15q24 Microdeletion - Genetic Testing Registry: 15q24 deletion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - D...
An abortion is a procedure to end a pregnancy. It uses medicine or surgery to remove the embryo or fetus and placenta from the uterus. The procedure is done by a licensed health care professional. The decision to end a pregnancy is very personal. If you are thinking of having an abortion, most healthcare providers a...
The skin abnormalities of IP usually disappear by adolescence or adulthood without treatment. Diminished vision may be treated with corrective lenses, medication, or, in severe cases, surgery. A specialist may treat dental problems. Neurological symptoms such as seizures, muscle spasms, or mild paralysis may be control...
These resources address the diagnosis or management of hereditary multiple osteochondromas: - Gene Review: Gene Review: Hereditary Multiple Osteochondromas - Genetic Testing Registry: Multiple congenital exostosis - Genetic Testing Registry: Multiple exostoses type 2 These resources from MedlinePlus offer informat...
What are the signs and symptoms of cold urticaria? The signs and symptoms of cold urticaria and the severity of the condition vary. Affected people generally develop reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent...
Warsaw breakage syndrome is a rare condition; at least four cases have been described in the medical literature.
Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide.
The inheritance pattern of ulcerative colitis is unknown because many genetic and environmental factors are likely to be involved. Even though the inheritance pattern of this condition is unclear, having a family member with ulcerative colitis increases the risk of developing the condition.
CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and wea...
Argininosuccinic aciduria occurs in approximately 1 in 70,000 newborns.
The incidence of LCHAD deficiency is unknown. One estimate, based on a Finnish population, indicates that 1 in 62,000 pregnancies is affected by this disorder. In the United States, the incidence is probably much lower.
There is no treatment available to reverse brain damage that has been caused by a stroke. Treatment focuses on preventing future strokes by controlling or avoiding the diseases and medical conditions that put people at high risk for stroke: high blood pressure, diabetes, high cholesterol, and cardiovascular disease. Th...
Summary : Do you know if your current weight is healthy? "Underweight", "normal", "overweight", and "obese" are all labels for ranges of weight. Obese and overweight mean that your weight is greater than it should be for your health. Underweight means that it is lower than it should be for your health. Your healthy bod...
Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr. When the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper cent...
Children with the benign form of alternating hemiplegia have a good prognosis. Those who experience the more severe form have a poor prognosis because intellectual and mental capacities do not respond to drug therapy, and balance and gait problems continue. Over time, walking unassisted becomes difficult or impossible.
Treating the underlying cause of the disorder may improve symptoms. However, the encephalopathy may cause permanent structural changes and irreversible damage to the brain. Some encephalopathies can be fatal.
How might carnitine palmitoyltransferase I deficiency be treated? Treatment of hypoketotic hypoglycemic attacks due to carnitine palmitoyltransferase I deficiency often involves prompt treatment with intravenous 10% dextrose.
What are the signs and symptoms of Keratoconus? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoconus. 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 symptoms of NPH usually get worse over time if the condition is not treated, although some people may experience temporary improvements. While the success of treatment with shunts varies from person to person, some people recover almost completely after treatment and have a good quality of life. Early diagnosis and...
Unverricht-Lundborg disease is an inherited form of progressive myoclonus epilepsy that is characterized by episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Af...
Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people. In childhood or adolescence, hundreds to thousands of small patches of normal skin appear, usually on the torso. The numerous pale spots surrounded by r...
Monoclonal gammopathy of undetermined significance (MGUS) is a condition in which an abnormal protein called monoclonal protein is detected in the blood. MGUS typically does not cause any problems, although some affected people may experience numbness, tingling or weakness. In some cases, MGUS may progress over time to...
Radiation therapy uses high-energy x-rays to kill cancer cells and shrink tumors. Doctors may recommend it instead of surgery or after surgery to destroy any cancer cells that may remain in the area. In advanced stages, the doctor may recommend it to relieve pain or other symptoms. Radiation can cause problems with imp...
These resources address the diagnosis or management of X-linked myotubular myopathy: - Gene Review: Gene Review: X-Linked Centronuclear Myopathy - Genetic Testing Registry: Severe X-linked myotubular myopathy These resources from MedlinePlus offer information about the diagnosis and management of various health con...
These resources address the diagnosis or management of progressive supranuclear palsy: - Gene Review: Gene Review: MAPT-Related Disorders - Genetic Testing Registry: Progressive supranuclear ophthalmoplegia - NHS Choices (UK): Diagnosis of Progressive Supranuclear Palsy - NHS Choices (UK): Treatment of Progressive ...
Researchers have not found that eating, diet, and nutrition play a role in causing or preventing Peyronies disease.
These resources address the diagnosis or management of atypical hemolytic-uremic syndrome: - Gene Review: Gene Review: Atypical Hemolytic-Uremic Syndrome - Genetic Testing Registry: Atypical hemolytic uremic syndrome - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 1 - Genetic Testing Registry: Atypic...