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What are the treatments for Axenfeld-Rieger syndrome ? | These resources address the diagnosis or management of Axenfeld-Rieger syndrome: - Genetic Testing Registry: Axenfeld-Rieger syndrome type 1 - Genetic Testing Registry: Axenfeld-Rieger syndrome type 2 - Genetic Testing Registry: Axenfeld-Rieger syndrome type 3 - Genetic Testing Registry: Rieger syndrome - Glaucoma... | [
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What are the symptoms of Partial agenesis of corpus callosum ? | What are the signs and symptoms of Partial agenesis of corpus callosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial agenesis of corpus callosum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | [
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What are the treatments for sialic acid storage disease ? | These resources address the diagnosis or management of sialic acid storage disease: - Gene Review: Gene Review: Free Sialic Acid Storage Disorders - Genetic Testing Registry: Salla disease - Genetic Testing Registry: Sialic acid storage disease, severe infantile type These resources from MedlinePlus offer informat... | [
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How many people are affected by Carney complex ? | Carney complex is a rare disorder; fewer than 750 affected individuals have been identified. | [
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Is Duchenne muscular dystrophy inherited ? | How do people inherit Duchenne and Becker muscular dystrophy? Duchenne and Becker muscular dystrophy are inherited in an X-linked recessive 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 males (who have only one... | [
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What are the symptoms of Acromesomelic dysplasia ? | What are the signs and symptoms of Acromesomelic dysplasia? Affected infants often have a normal birth weight. In most cases, in addition to having unusually short, broad hands and feet, affected infants often have characteristic facial abnormalities that are apparent at birth. Such features may include a relatively en... | [
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What is (are) idiopathic pulmonary fibrosis ? | Idiopathic pulmonary fibrosis is a chronic, progressive lung disease. This condition causes scar tissue (fibrosis) to build up in the lungs, which makes the lungs unable to transport oxygen into the bloodstream effectively. The disease usually affects people between the ages of 50 and 70. The most common signs and sym... | [
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What is (are) branchio-oculo-facial syndrome ? | Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. "Branchio-" refers to the branchial arches, which ar... | [
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Who is at risk for Parasites - Babesiosis? ? | People can get infected with Babesia parasites in several ways:
- The main way is through the bite of an infected tick—during outdoor activities in areas where babesiosis is found (see below).
- A less common way is by getting a transfusion from a blood donor who has a Babesia infection but does not have... | [
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what research (or clinical trials) is being done for Anxiety Disorders ? | Clinical trials are part of clinical research and at the heart of all treatment advances. Clinical trials look at new ways to prevent, detect, or treat disease. The National Institute of Mental Health at NIH supports research studies on mental health and disorders. To learn how clinical trials work, see Participating ... | [
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What are the treatments for Familial hypercholesterolemia ? | How might familial hypercholesterolemia be treated? The overall goal of treatment for familial hypercholesterolemia (FH) is to lower the risk for atherosclerosis (build-up of plaque in the arteries) by lowering the LDL cholesterol levels in the blood stream. The first step in treatment for individuals with the heterozy... | [
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What are the symptoms of Kaufman oculocerebrofacial syndrome ? | What are the signs and symptoms of Kaufman oculocerebrofacial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaufman oculocerebrofacial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | [
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Do you have information about Body Weight | 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... | [
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What is (are) Factor XIII deficiency ? | Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected indi... | [
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What is (are) Parkinson's Disease ? | Deep brain stimulation, or DBS, is a surgical procedure used to treat a variety of disabling disorders. It is most commonly used to treat the debilitating symptoms of Parkinsons disease. Deep brain stimulation uses an electrode surgically implanted into part of the brain. The electrodes are connected under the skin to ... | [
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What are the symptoms of Hemochromatosis ? | Hemochromatosis can affect many parts of the body and cause various signs and symptoms. Many of the signs and symptoms are similar to those of other diseases.
Signs and symptoms of hemochromatosis usually don't occur until middle age. Women are more likely to have general symptoms first, such as fatigu... | [
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What are the symptoms of Fryns Hofkens Fabry syndrome ? | What are the signs and symptoms of Fryns Hofkens Fabry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fryns Hofkens Fabry syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | [
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What is (are) Swallowing Disorders ? | Having trouble swallowing (dysphagia) is a symptom that accompanies a number of neurological disorders. The problem can occur at any stage of the normal swallowing process as food and liquid move from the mouth, down the back of the throat, through the esophagus and into the stomach. Difficulties can range from a total... | [
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How to diagnose Congenital anosmia ? | How is congenital anosmia diagnosed? Isolated congenital anosmia (not associated with other symptoms) is a diagnosis of exclusion. This means that the diagnosis is made in people with suspicious signs and symptoms once other conditions that cause similar features have been ruled out. When an affected person has no reco... | [
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What is (are) Hepatitis A ? | Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. One type, hepatitis A, is caused by the hepatitis A virus (HAV). The disease spreads through contact with an infected person's stool. You can get it from -... | [
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What are the treatments for Chronic Myelogenous Leukemia ? | See the PDQ summary about Chronic Myelogenous Leukemia Treatment for information. | [
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What are the genetic changes related to Beckwith-Wiedemann syndrome ? | The genetic causes of Beckwith-Wiedemann syndrome are complex. The condition usually results from the abnormal regulation of genes in a particular region of chromosome 11. People normally inherit one copy of this chromosome from each parent. For most genes on chromosome 11, both copies of the gene are expressed, or "tu... | [
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What are the treatments for Skin Cancer ? | Different types of treatment are available for patients with skin cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. Four types of standard treatment are used: surgery, radiation therapy, chemotherapy, photodynamic therapy, and immunotherapy. Another thera... | [
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what research (or clinical trials) is being done for Giant Axonal Neuropathy ? | The National Institute of Neurological Disorders and Stroke (NINDS) supports research related to GAN through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure inherited neurological disorders such as GAN. | [
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What are the symptoms of Tetralogy of Fallot ? | Cyanosis is an important sign of tetralogy of Fallot. Cyanosis is a bluish tint to the skin, lips, and fingernails. Low oxygen levels in the blood cause cyanosis.
Babies who have unrepaired tetralogy of Fallot sometimes have "tet spells." These spells happen in response to an activity like crying or ha... | [
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How to diagnose Parasites - Baylisascaris infection ? | If you suspect you have been infected, consult your health care provider immediately. Be sure to tell your health care provider if you have recently been exposed to raccoons or their feces.
Diagnosis is difficult because symptoms depend on the number of infecting larvae and location in the body. Ocular larva migra... | [
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What is (are) familial cold autoinflammatory syndrome ? | Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life. People with this condition usually experience symptoms after cold exposure of an hour or more, although... | [
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What is (are) Tracheal agenesis ? | Tracheal agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia). Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color (cyanosis) and no audible cry shortly after birth. The underlying cau... | [
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What are the symptoms of Vici syndrome ? | What are the signs and symptoms of Vici syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Vici syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to loo... | [
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What are the symptoms of MORM syndrome ? | What are the signs and symptoms of MORM syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for MORM syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to loo... | [
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Do you have information about Safety | Summary : You can't remove all the safety hazards from your life, but you can reduce them. To avoid many major hazards and prepare for emergencies - Keep emergency phone numbers by your telephones - Make a first aid kit for your home - Make a family emergency plan - Install and maintain smoke alarms ... | [
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What are the symptoms of Pseudohypoaldosteronism type 2 ? | What are the signs and symptoms of Pseudohypoaldosteronism type 2? The most common symptom of pseudohypoaldosteronism type 2 is high blood pressure in adolescents or young adults. In its most severe form, it is associated with muscle weakness, short stature, and intellectual impairment. The Human Phenotype Ontology pro... | [
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Is osteogenesis imperfecta inherited ? | Most cases of osteogenesis imperfecta have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Many people with type I or type IV osteogenesis imperfecta inherit a mutation from a parent who has the disorder. Most infants with more se... | [
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What is (are) Osteopetrosis autosomal recessive 4 ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ... | [
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What are the treatments for Dermatomyositis ? | How is dermatomyositis treated? While there is no cure for dermatomyositis, the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for dermatomyositis is a corticosteroid d... | [
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What is (are) Frontotemporal Dementia ? | Frontotemporal dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Picks disease, the name and classification of FTD has been a topic of discussion for over a century. The current designation of the syndrome groups together ... | [
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What are the symptoms of Juvenile dermatomyositis ? | What are the signs and symptoms of Juvenile dermatomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile dermatomyositis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... | [
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How many people are affected by X-linked lissencephaly with abnormal genitalia ? | The incidence of XLAG is unknown; approximately 30 affected families have been described in the medical literature. | [
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Is autosomal dominant hypocalcemia inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A small number of cases result from new mutations in the gene and occur in people wi... | [
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What are the symptoms of Familial amyloidosis, Finnish type ? | What are the signs and symptoms of Familial amyloidosis, Finnish type? Symptoms of this condition usually begin in an individual's 20s or 30s, and they usually emerge in a specific order. The progression is often slow, but varies among individuals. The typical triad of features includes accumulation of amyloid deposits... | [
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What are the genetic changes related to Klippel-Feil syndrome ? | Mutations in the GDF6, GDF3, or MEOX1 gene can cause Klippel-Feil syndrome. These genes are involved in proper bone development. The protein produced from the GDF6 gene is necessary for the formation of bones and joints, including those in the spine. While the protein produced from the GDF3 gene is known to be involved... | [
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What are the symptoms of Hypomelia mullerian duct anomalies ? | What are the signs and symptoms of Hypomelia mullerian duct anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomelia mullerian duct anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | [
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What are the treatments for Childhood Vascular Tumors ? | Key Points
- There are different types of treatment for childhood vascular tumors. - Children with childhood vascular tumors should have their treatment planned by a team of health care providers who are experts in treating cancer in children. - Some treatments cause side effects months or ye... | [
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what research (or clinical trials) is being done for Gallbladder Cancer ? | New types of treatment are being tested in clinical trials.
This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiation sensitizers Cli... | [
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Is pachyonychia congenita inherited ? | Pachyonychia congenita is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of all cases, an affected person inherits the mutation from one affected parent. The other half of cases result from a new (de novo) mutation in ... | [
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How many people are affected by moyamoya disease ? | Moyamoya disease was first identified in Japan, where it is most prevalent, affecting about 5 in 100,000 individuals. The condition is also relatively common in other Asian populations. It is ten times less common in Europe. In the United States, Asian Americans are four times more commonly affected than whites. For un... | [
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What is (are) Dementia ? | Dementia is not a specific disease. It is a descriptive term for a collection of symptoms that can be caused by a number of disorders that affect the brain. People with dementia have significantly impaired intellectual functioning that interferes with normal activities and relationships. They also lose their ability to... | [
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Is congenital myasthenic syndrome inherited ? | This condition is most commonly 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. R... | [
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What causes Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | What causes HEM? HEM is associated with mutations (changes) in the lamin B receptor (LBR) gene located on chromosome 1, specifically at 1q42.1. Each person has two copies of the LBR gene - one inherited from mom and the other from dad. People who have two mutated copies of the LBR gene have HEM; thus, the condition is... | [
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What are the symptoms of Cystocele ? | The symptoms of a cystocele may include
- a vaginal bulge - the feeling that something is falling out of the vagina - the sensation of pelvic heaviness or fullness - difficulty starting a urine stream - a feeling of incomplete urination - frequent or urgent urination
Women who hav... | [
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What are the symptoms of Buerger disease ? | What are the signs and symptoms of Buerger disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Buerger 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... | [
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What is (are) Tremor ? | Tremors are unintentional trembling or shaking movements in one or more parts of your body. Most tremors occur in the hands. You can also have arm, head, face, vocal cord, trunk, and leg tremors. Tremors are most common in middle-aged and older people, but anyone can have them. The cause of tremors is a problem in t... | [
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What is (are) Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ? | Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large, low-set ears, small eyes, microce... | [
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What are the genetic changes related to IRAK-4 deficiency ? | IRAK-4 deficiency is caused by mutations in the IRAK4 gene, which provides instructions for making a protein that plays an important role in stimulating the immune system to respond to infection. The IRAK-4 protein is part of a signaling pathway that is involved in early recognition of foreign invaders (pathogens) and ... | [
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What are the genetic changes related to glutaric acidemia type I ? | Mutations in the GCDH gene cause glutaric acidemia type I. The GCDH gene provides instructions for making the enzyme glutaryl-CoA dehydrogenase. This enzyme is involved in processing the amino acids lysine, hydroxylysine, and tryptophan. Mutations in the GCDH gene prevent production of the enzyme or result in the pro... | [
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What are the symptoms of Lattice corneal dystrophy type 1 ? | What are the signs and symptoms of Lattice corneal dystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy 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... | [
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What is (are) Bartter syndrome ? | Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amni... | [
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How many people are affected by nonbullous congenital ichthyosiform erythroderma ? | NBCIE is estimated to affect 1 in 200,000 to 300,000 individuals in the United States. This condition is more common in Norway, where an estimated 1 in 90,000 people are affected. | [
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What are the symptoms of Spinocerebellar ataxia 11 ? | What are the signs and symptoms of Spinocerebellar ataxia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 11. 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 M... | [
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Is narcolepsy inherited ? | Most cases of narcolepsy are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of all cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. First-degree relatives (parents, siblings, and children) of... | [
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How to prevent Diagnosis of Diabetes and Prediabetes ? | A major research study, the Diabetes Prevention Program (DPP), proved that people with prediabetes were able to sharply reduce their risk of developing diabetes during the study by losing 5 to 7 percent of their body weight through dietary changes and increased physical activity.
Study participants fol... | [
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What are the genetic changes related to Turner syndrome ? | Turner syndrome is related to the X chromosome, which is one of the two sex chromosomes. People typically have two sex chromosomes in each cell: females have two X chromosomes, while males have one X chromosome and one Y chromosome. Turner syndrome results when one normal X chromosome is present in a female's cells and... | [
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What are the treatments for Langerhans cell histiocytosis ? | These resources address the diagnosis or management of Langerhans cell histiocytosis: - Cincinnati Children's Hospital Medical Center - Cleveland Clinic - Genetic Testing Registry: Langerhans cell histiocytosis, multifocal - National Cancer Institute: Langerhans Cell Histiocytosis Treatment - Seattle Children's Ho... | [
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what research (or clinical trials) is being done for Wilson Disease ? | The National Institute of Neurological Disorders and Stroke, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and other institutes of the National Institutes of Health (NIH) conduct and/or support research related to Wilson disease. Growing knowledge of the copper transporting gene A... | [
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What is (are) familial isolated pituitary adenoma ? | Familial isolated pituitary adenoma (FIPA) is an inherited condition characterized by development of a noncancerous tumor in the pituitary gland (called a pituitary adenoma). The pituitary gland, which is found at the base of the brain, produces hormones that control many important body functions. Tumors that form in ... | [
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Is galactosialidosis inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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How to diagnose Inguinal Hernia ? | A health care provider diagnoses an inguinal hernia with
- a medical and family history - a physical exam - imaging tests, including x rays
Medical and family history. Taking a medical and family history may help a health care provider diagnose an inguinal hernia. Often the symptoms ... | [
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What is (are) Kidney Stones in Adults ? | A kidney stone is a solid piece of material that forms in a kidney when substances that are normally found in the urine become highly concentrated. A stone may stay in the kidney or travel down the urinary tract. Kidney stones vary in size. A small stone may pass on its own, causing little or no pain. A larger stone ma... | [
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What are the treatments for Darier disease ? | These resources address the diagnosis or management of Darier disease: - Genetic Testing Registry: Keratosis follicularis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Co... | [
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What is the outlook for Gaucher Disease ? | Enzyme replacement therapy is very beneficial for type 1 and most type 3 individuals with this condition. Successful bone marrow transplantation can reverse the non-neurological effects of the disease, but the procedure carries a high risk and is rarely performed in individuals with Gaucher disease. | [
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How to prevent Hemolytic Uremic Syndrome in Children ? | Parents and caregivers can help prevent childhood hemolytic uremic syndrome due to E. coli O157:H7 by
- avoiding unclean swimming areas - avoiding unpasteurized milk, juice, and cider - cleaning utensils and food surfaces often - cooking meat to an internal temperature of at least 160 F - defrostin... | [
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How many people are affected by Perrault syndrome ? | 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. | [
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What are the symptoms of Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech ? | What are the signs and symptoms of Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech. If the information is available, the table below includes how often ... | [
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What are the treatments for Lung Cancer ? | The choice of treatment depends on the type of lung cancer, whether it is non-small or small cell lung cancer, the size, location, the stage of the cancer, and the patient's general health. Doctors may suggest many different treatments or combinations of treatments to control the cancer and/or improve the patient's qua... | [
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What are the treatments for Congenital anosmia ? | How might congenital anosmia be treated? Unfortunately, there is currently no known cure or treatment for congenital anosmia. | [
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What is (are) Myofibrillar myopathy ? | Myofibrillar myopathies (MFM) are a group of neuromuscular disorders characterized by slowly progressive weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those farther away from the trunk). Some affected individuals also experience sensory symptoms, muscle stiffness, achi... | [
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What is (are) Glomerular Diseases ? | The two kidneys are bean-shaped organs located just below the rib cage, one on each side of the spine. Everyday, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid.
Blood enters the kidneys through arteries that branch ins... | [
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Is Schinzel-Giedion syndrome inherited ? | Schinzel-Giedion syndrome results from new mutations in the SETBP1 gene and occurs in people with no history of the disorder in their family. One copy of the altered gene in each cell is sufficient to cause the disorder. | [
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How many people are affected by Duchenne and Becker muscular dystrophy ? | Duchenne and Becker muscular dystrophies together affect 1 in 3,500 to 5,000 newborn males worldwide. Between 400 and 600 boys in the United States are born with these conditions each year. | [
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What causes Adiposis dolorosa ? | What causes adiposis dolorosa? The exact cause of adiposis dolorosa remains unknown. While possible causes have been suggested, none have been confirmed. These include long-term treatment with high-dose corticosteroids; endocrine system abnormalities; and changes in fatty acid or carbohydrate metabolism. Researchers ha... | [
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What is (are) Parkinson's Disease ? | Parkinson's disease (PD) is a type of movement disorder. It happens when nerve cells in the brain don't produce enough of a brain chemical called dopamine. Sometimes it is genetic, but most cases do not seem to run in families. Exposure to chemicals in the environment might play a role. Symptoms begin gradually, oft... | [
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What is (are) Familial Periodic Paralyses ? | Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Between attacks, the affected muscles usually wo... | [
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What is (are) Porencephaly ? | Porencephaly is a rare condition that affects the central nervous system. People with porencephaly develop fluid-filled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and number of c... | [
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What are the treatments for Kuskokwim disease ? | How might Kuskokwim disease be treated? Treatment for Kuskokwim disease depends on the nature and severity of signs and symptoms in each affected individual. There is currently no completely successful approach to treat arthrogryposis. The goals of treatment may include lower-limb alignment, establishing stability for ... | [
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What are the symptoms of Cerebellar degeneration ? | What are the signs and symptoms of cerebellar degeneration? Cerebellar degeneration is primarily characterized by a wide-legged, unsteady, lurching walk that is usually accompanied by a back and forth tremor in the trunk of the body. Other signs and symptoms may include slow, unsteady and jerky movement of the arms or ... | [
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What is (are) pilomatricoma ? | Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs. A pi... | [
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What are the treatments for Eosinophilic fasciitis ? | How might eosinophilic fasciitis be treated? About 10-20% of people with eosinophilic fasciitis recover spontaneously without treatment. For those who do not, glucocorticoids (0.51 mg/kg/d), such as prednisone, are the mainstay therapy. Even with treatment, improvement in symptoms can take weeks or months. Glucocortic... | [
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What are the treatments for oculopharyngeal muscular dystrophy ? | These resources address the diagnosis or management of oculopharyngeal muscular dystrophy: - Gene Review: Gene Review: Oculopharyngeal Muscular Dystrophy - Genetic Testing Registry: Oculopharyngeal muscular dystrophy - MedlinePlus Encyclopedia: Ptosis These resources from MedlinePlus offer information about the di... | [
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What are the symptoms of Langer mesomelic dysplasia ? | What are the signs and symptoms of Langer mesomelic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Langer mesomelic dysplasia. 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... | [
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How many people are affected by caudal regression syndrome ? | Caudal regression syndrome is estimated to occur in 1 to 2.5 per 100,000 newborns. This condition is much more common in infants born to mothers with diabetes when it affects an estimated 1 in 350 newborns. | [
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What is (are) Adult Central Nervous System Tumors ? | Key Points
- An adult central nervous system tumor is a disease in which abnormal cells form in the tissues of the brain and/or spinal cord. - A tumor that starts in another part of the body and spreads to the brain is called a metastatic brain tumor. - The brain controls many important body f... | [
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How many people are affected by tetrahydrobiopterin deficiency ? | This condition is rare, affecting an estimated 1 in 500,000 to 1 in 1 million newborns. In most parts of the world, tetrahydrobiopterin deficiency accounts for 1 to 3 percent of all cases of elevated phenylalanine levels. The remaining cases are caused by a similar condition called phenylketonuria (PKU). In certain cou... | [
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What are the treatments for Bile Duct Cancer (Cholangiocarcinoma) ? | Key Points
- There are different types of treatment for patients with bile duct cancer. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - Liver transplant ... | [
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What are the treatments for carnitine-acylcarnitine translocase deficiency ? | These resources address the diagnosis or management of CACT deficiency: - Baby's First Test - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians - Genetic Testing Registry: Carnitine acylcarnitine translocase deficiency These resourc... | [
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Do you have information about Tears | Summary : You may only think of tears as those salty drops that fall from your eyes when you cry. Actually, your tears clean your eyes every time you blink. Tears also keep your eyes moist, which is important for your vision. Tear glands produce tears, and tear ducts carry the tears from the glands to the surface of... | [
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How to diagnose Renal Tubular Acidosis ? | To diagnose RTA, doctors check the acid-base balance in blood and urine samples. If the blood is more acidic than it should be and the urine less acidic than it should be, RTA may be the reason, but additional information is needed to rule out other causes. If RTA is the reason, additional information about the sodium,... | [
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What is (are) otopalatodigital syndrome type 1 ? | Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In genera... | [
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What are the treatments for Dubin-Johnson syndrome ? | These resources address the diagnosis or management of Dubin-Johnson syndrome: - Genetic Testing Registry: Dubin-Johnson syndrome - MedlinePlus Encyclopedia: Bilirubin - MedlinePlus Encyclopedia: Dubin-Johnson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various... | [
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How many people are affected by Wagner syndrome ? | Wagner syndrome is a rare disorder, although its exact prevalence is unknown. Approximately 300 affected individuals have been described worldwide; about half of these individuals are from the Netherlands. | [
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What is (are) Childhood Non-Hodgkin Lymphoma ? | Key Points
- Childhood non-Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. - The main types of lymphoma are Hodgkin lymphoma and non-Hodgkin lymphoma. - There are three major types of childhood non-Hodgkin lymphoma. - Mature B-cell non-Hodgkin ... | [
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