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information | What is (are) Tuberous Sclerosis ? | Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It usually affects the central nervous system. In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizu... |
genetic changes | What are the genetic changes related to tetrahydrobiopterin deficiency ? | Tetrahydrobiopterin deficiency can be caused by mutations in one of several genes, including GCH1, PCBD1, PTS, and QDPR. These genes provide instructions for making enzymes that help produce and recycle tetrahydrobiopterin in the body. Tetrahydrobiopterin normally helps process several amino acids, including phenylalan... |
genetic changes | What are the genetic changes related to hyperphosphatemic familial tumoral calcinosis ? | Mutations in the FGF23, GALNT3, or KL gene cause HFTC. The proteins produced from these genes are all involved in the regulation of phosphate levels within the body (phosphate homeostasis). Among its many functions, phosphate plays a critical role in the formation and growth of bones in childhood and helps maintain bon... |
symptoms | What are the symptoms of C1q deficiency ? | What are the signs and symptoms of C1q deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for C1q deficiency. 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 l... |
outlook | What is the outlook for Hereditary Neuropathies ? | The prognosis for individuals with hereditary neuropathies depends upon the type of neuropathy. Some hereditary neuropathies have very mild symptoms and may go undiagnosed for many years. Other types are more severe and are associated with more disabilities. Genetic counseling is important to understand further details... |
genetic changes | What are the genetic changes related to gastrointestinal stromal tumor ? | Genetic changes in one of several genes are involved in the formation of GISTs. About 80 percent of cases are associated with a mutation in the KIT gene, and about 10 percent of cases are associated with a mutation in the PDGFRA gene. Mutations in the KIT and PDGFRA genes are associated with both familial and sporadic ... |
frequency | How many people are affected by Miller syndrome ? | Miller syndrome is a rare disorder; it is estimated to affect fewer than 1 in 1 million newborns. At least 30 cases have been reported in the medical literature. |
information | Do you have information about Club Drugs | Summary : Club drugs are group of psychoactive drugs. They act on the central nervous system and can cause changes in mood, awareness, and how you act. These drugs are often abused by young adults at all-night dance parties, dance clubs, and bars. They include - Methylenedioxymethamphetamine (MDMA), also known as... |
symptoms | What are the symptoms of Kowarski syndrome ? | What are the signs and symptoms of Kowarski syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kowarski syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... |
treatment | What are the treatments for benign familial neonatal seizures ? | These resources address the diagnosis or management of BFNS: - Boston Children's Hospital: My Child Has...Seizures and Epilepsy - Epilepsy Action: Benign Neonatal Convulsions - Gene Review: Gene Review: KCNQ2-Related Disorders - Gene Review: Gene Review: KCNQ3-Related Disorders - Genetic Testing Registry: Benign f... |
information | What is (are) Pyoderma gangrenosum ? | Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn's disease, ... |
prevention | How to prevent Alzheimer's Disease ? | Keeping the mind sharpthrough social engagement or intellectual stimulationis associated with a lower risk of Alzheimers disease. Activities like working, volunteering, reading, going to lectures, and playing computer and other games are being studied to see if they might help prevent Alzheimers. But we do not know wit... |
causes | What causes Dermatofibrosarcoma protuberans ? | What causes Dermatofibrosarcoma protuberans? The cause of DFSP is unknown but an injury to the affected skin may be a predisposing factor. Trauma at the affected site has been reported in approximately 10-20% of patients. Recent advances have shown that in approximately 90% of cases, dermatofibrosarcoma protuberans is ... |
information | What is (are) Wernicke-Korsakoff Syndrome ? | Wernicke's encephalopathy is a degenerative brain disorder caused by the lack of thiamine (vitamin B1). It may result from alcohol abuse, dietary deficiencies, prolonged vomiting, eating disorders, or the effects of chemotherapy. B1 deficiency causes damage to the brain's thalamus and hypothalamus. Symptoms include men... |
treatment | What are the treatments for Cornelia de Lange syndrome ? | 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.... |
information | What is (are) Joubert Syndrome ? | Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis- an area of the brain that controls balance and coordination -- as well as a malformed brain stem (molar tooth sign). The most common features of Joubert syndrome in infants include abnormally rapid b... |
symptoms | What are the symptoms of Weissenbacher-Zweymuller syndrome ? | What are the signs and symptoms of Weissenbacher-Zweymuller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weissenbacher-Zweymuller syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... |
information | What is (are) Polymicrogyria ? | Polymicrogyria is a condition characterized by abnormal development of the brain before birth. Specifically, the surface of the brain develops too many folds which are unusually small. The signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; how... |
information | What is (are) glucose-galactose malabsorption ? | Glucose-galactose malabsorption is a condition in which the cells lining the intestine cannot take in the sugars glucose and galactose, which prevents proper digestion of these molecules and larger molecules made from them. Glucose and galactose are called simple sugars, or monosaccharides. Sucrose (table sugar) and l... |
symptoms | What are the symptoms of Microcephaly cervical spine fusion anomalies ? | What are the signs and symptoms of Microcephaly cervical spine fusion anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly cervical spine fusion anomalies. If the information is available, the table below includes how often the symptom is seen in people with this co... |
genetic changes | What are the genetic changes related to purine nucleoside phosphorylase deficiency ? | Purine nucleoside phosphorylase deficiency is caused by mutations in the PNP gene. The PNP gene provides instructions for making an enzyme called purine nucleoside phosphorylase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes. These cells protect the body... |
information | What is (are) Pericarditis ? | Pericarditis (PER-i-kar-DI-tis) is a condition in which the membrane, or sac, around your heart is inflamed. This sac is called the pericardium (per-i-KAR-de-um).
The pericardium holds the heart in place and helps it work properly. The sac is made of two thin layers of tissue that enclose your heart. B... |
prevention | How to prevent Hearing Loss ? | Researchers funded by the National Institutes of Health are studying the causes of hearing loss as well as new treatments. For example, they are studying ways to improve hearing aids so that you can hear certain sounds more clearly even when you are surrounded by background noise. They are also working to to improve co... |
inheritance | Is familial dilated cardiomyopathy inherited ? | Familial dilated cardiomyopathy has different inheritance patterns depending on the gene involved. In 80 to 90 percent of cases, familial dilated cardiomyopathy 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 af... |
symptoms | What are the symptoms of What I need to know about Diarrhea ? | In addition to passing frequent, loose stools, other possible symptoms include
- cramps or pain in the abdomenthe area between the chest and hips - an urgent need to use the bathroom - loss of bowel control
You may feel sick to your stomach or become dehydrated. If a virus or bacteri... |
information | Do you have information about Hormones | Summary : Hormones are your body's chemical messengers. They travel in your bloodstream to tissues or organs. They work slowly, over time, and affect many different processes, including - Growth and development - Metabolism - how your body gets energy from the foods you eat - Sexual function - Reproduc... |
frequency | How many people are affected by hypokalemic periodic paralysis ? | Although its exact prevalence is unknown, hypokalemic periodic paralysis is estimated to affect 1 in 100,000 people. Men tend to experience symptoms of this condition more often than women. |
symptoms | What are the symptoms of Megalocornea-intellectual disability syndrome ? | What are the signs and symptoms of Megalocornea-intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Megalocornea-intellectual disability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this ... |
information | What is (are) Carney complex ? | Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. Some families with this condition have been found to have mutations in the PRKAR1A gene. Carney com... |
frequency | How many people are affected by autosomal recessive primary microcephaly ? | The prevalence of all forms of microcephaly that are present from birth (primary microcephaly) ranges from 1 in 30,000 to 1 in 250,000 newborns worldwide. About 200 families with MCPH have been reported in the medical literature. This condition is more common in several specific populations, such as in northern Pakista... |
symptoms | What are the symptoms of Congenital laryngeal palsy ? | What are the signs and symptoms associated with congenital laryngeal paralysis? The following online resources provide information on the signs and symptoms of congenital laryngeal paralysis: National Institute on Deafness and Other Communication Disorders- Vocal Fold Paralysis Medscape Reference - Congenital Malformat... |
information | What is (are) Linear scleroderma ? | Linear scleroderma is one sub-type of localized scleroderma, most commonly occurring in childhood. It is characterized by abnormalities of the skin and subcutaneous tissues that often follow a dermatomal distribution and that are found on one side of the body. Besides the lesion in the face or scalp there are also abn... |
symptoms | What are the symptoms of Pallister-Killian mosaic syndrome ? | What are the signs and symptoms of Pallister-Killian mosaic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pallister-Killian mosaic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... |
frequency | How many people are affected by propionic acidemia ? | Propionic acidemia affects about 1 in 100,000 people in the United States. The condition appears to be more common in several populations worldwide, including the Inuit population of Greenland, some Amish communities, and Saudi Arabians. |
research | what research (or clinical trials) is being done for Sydenham Chorea ? | The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to SD in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. Currently, researchers are study... |
exams and tests | How to diagnose Periventricular heterotopia ? | What are the recommended evaluations for patients diagnosed with periventricular nodular heterotopia? The following evaluations are recommended:[1823] Imaging exams of the brain to establish the diagnosis Evaluation by a neurologist Evaluation by a doctor specialized in epilepsy if seizures are present Psychiatric ... |
information | What is (are) Inflammatory linear verrucous epidermal nevus ? | Inflammatory linear verrucous epidermal nevus (ILVEN) is a type of skin overgrowth. The skin nevi appear as skin colored, brown, or reddish, wort-like papules. The nevi join to form well-demarcated plaques. The plaques may be itchy and often affects only one side of the body. ILVEN tends to be present from birth to ear... |
information | Do you have information about Blood Clots | Summary : Normally, if you get hurt, your body forms a blood clot to stop the bleeding. Some people get too many clots or their blood clots abnormally. Many conditions can cause the blood to clot too much or prevent blood clots from dissolving properly. Risk factors for excessive blood clotting include - Certa... |
symptoms | What are the symptoms of Brachydactyly Mononen type ? | What are the signs and symptoms of Brachydactyly Mononen type? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly Mononen type. 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... |
treatment | What are the treatments for Ring chromosome 20 ? | How might ring chromosome 20 be treated? Treatment of ring chromosome 20 is typically focused on management of seizures. The seizures associated with ring chromosome 20 do not generally respond well to medications. The treatment that is successful varies from person to person. Broad spectrum AEDs are usually tried firs... |
symptoms | What are the symptoms of Larsen-like syndrome ? | What are the signs and symptoms of Larsen-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Larsen-like 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 Dic... |
symptoms | What are the symptoms of Facio thoraco genital syndrome ? | What are the signs and symptoms of Facio thoraco genital syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Facio thoraco genital 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 Med... |
information | What is (are) Prothrombin thrombophilia ? | Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People who have prothrombin thrombophilia are at somewhat higher than average risk for a type of clot called a deep venous thrombosis, which typically occur in the ... |
treatment | What are the treatments for Costello syndrome ? | These resources address the diagnosis or management of Costello syndrome: - Gene Review: Gene Review: Costello Syndrome - Genetic Testing Registry: Costello syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therap... |
symptoms | What are the symptoms of Ectodermal dysplasia with natal teeth Turnpenny type ? | What are the signs and symptoms of Ectodermal dysplasia with natal teeth Turnpenny type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia with natal teeth Turnpenny type. If the information is available, the table below includes how often the symptom is seen in peo... |
exams and tests | How to diagnose Anemia in Chronic Kidney Disease ? | A health care provider diagnoses anemia based on
- a medical history - a physical exam - blood tests
Medical History
Taking a medical history is one of the first things a health care provider may do to diagnose anemia. He or she will usually ask about the patients sy... |
causes | What causes Muscle eye brain disease ? | What causes muscle eye brain disease? Muscle eye brain disease is caused by mutations in the POMGNT1 gene. This gene provides instructions for making a protein that is involved in adding sugar molecules to a protein called alpha dystroglycan. Alpha dystroglycan is important for stabilizing the muscle cell during contra... |
frequency | How many people are affected by congenital cataracts, facial dysmorphism, and neuropathy ? | The prevalence of CCFDN is unknown. The disorder has been identified in about 150 individuals of Romani ethnicity. Thus far, no affected individuals have been observed outside this community. |
genetic changes | What are the genetic changes related to familial hemophagocytic lymphohistiocytosis ? | Familial hemophagocytic lymphohistiocytosis may be caused by mutations in any of several genes. These genes provide instructions for making proteins that help destroy or deactivate lymphocytes that are no longer needed. By controlling the number of activated lymphocytes, these genes help regulate immune system function... |
information | What is (are) Tarsal tunnel syndrome ? | Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve an... |
genetic changes | What are the genetic changes related to Moebius syndrome ? | The causes of Moebius syndrome are unknown, although the condition probably results from a combination of environmental and genetic factors. Researchers are working to identify and describe specific genes related to this condition. The disorder appears to be associated with changes in particular regions of chromosomes ... |
frequency | How many people are affected by fucosidosis ? | Fucosidosis is a rare condition; approximately 100 cases have been reported worldwide. This condition appears to be most prevalent in Italy, Cuba, and the southwestern United States. |
information | What is (are) Spinocerebellar ataxia 11 ? | Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia (difficulty walking and balance) and abnormal eye signs (jerky pursuit, horizontal and vertical movements (nystagmus), pyramidal features (increased muscular tonus, increased reflexes and an abnormal reflex known as Babinski sign a... |
genetic changes | What are the genetic changes related to hereditary antithrombin deficiency ? | Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene. This gene provides instructions for producing a protein called antithrombin (previously known as antithrombin III). This protein is found in the bloodstream and is important for controlling blood clotting. Antithrombin blocks the activity o... |
genetic changes | What are the genetic changes related to neuromyelitis optica ? | No genes associated with neuromyelitis optica have been identified. However, a small percentage of people with this condition have a family member who is also affected, which indicates that there may be one or more genetic changes that increase susceptibility. It is thought that the inheritance of this condition is com... |
outlook | What is the outlook for Aphasia ? | The outcome of aphasia is difficult to predict given the wide range of variability of the condition. Generally, people who are younger or have less extensive brain damage fare better. The location of the injury is also important and is another clue to prognosis. In general, people tend to recover skills in language com... |
treatment | What are the treatments for Eosinophilic enteropathy ? | How might eosinophilic enteropathy be treated? There is no "cure" for eosinophilic enteropathy, but treatment can help alleviate symptoms and prevent further damage to the gastrointestinal tract. Treatment of eosinophilic enteropathy varies based on the location of the eosinophils, severity of symptoms, and other medic... |
symptoms | What are the symptoms of Nephrogenic diabetes insipidus ? | What are the signs and symptoms of Nephrogenic diabetes insipidus? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrogenic diabetes insipidus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... |
exams and tests | How to diagnose Lafora disease ? | How is Lafora disease diagnosed? A diagnosis of Lafora disease is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. For example, a skin biopsy may be performed to dete... |
inheritance | Is adenine phosphoribosyltransferase deficiency 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. |
genetic changes | What are the genetic changes related to hereditary paraganglioma-pheochromocytoma ? | Mutations in at least four genes increase the risk of developing the different types of hereditary paraganglioma-pheochromocytoma. Mutations in the SDHD gene predispose an individual to hereditary paraganglioma-pheochromocytoma type 1; mutations in the SDHAF2 gene predispose to type 2; mutations in the SDHC gene predis... |
information | What is (are) Arthritis ? | If you feel pain and stiffness in your body or have trouble moving around, you might have arthritis. Most kinds of arthritis cause pain and swelling in your joints. Joints are places where two bones meet, such as your elbow or knee. Over time, a swollen joint can become severely damaged. Some kinds of arthritis can als... |
outlook | What is the outlook for Melanoma ? | Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The thickness of the tumor and where it is in the body. - How quickly the cancer cells are dividing. - Whether there was bleeding or ulceration o... |
symptoms | What are the symptoms of Microcystic adnexal carcinoma ? | What are the symptoms of microcystic adnexal carcinoma? Microcystic adnexal carcinoma appears as a smooth bump or patch that is slightly raised from the surrounding skin. It may be flesh-colored or yellowish, and it increases in size over time. A microcystic adnexal carcinoma may grow into nerves nearby, which can ca... |
treatment | What are the treatments for Congenital sucrase-isomaltase deficiency ? | How might congenital sucrase-isomaltase deficiency (CSID) be treated? CSID is typically treated by modifying a person's diet to reduce the amount of sucrose. Because many foods contain sucrose and other complex sugars, it can be difficult to completely remove sucrase from the diet. Sucraid is an oral medication contain... |
frequency | How many people are affected by hepatic lipase deficiency ? | Hepatic lipase deficiency is likely a rare disorder; only a few affected families have been reported in the scientific literature. |
exams and tests | How to diagnose Olivopontocerebellar atrophy ? | How is olivopontocerebellar atrophy diagnosed? A diagnosis of olivopontocerebellar atrophy (OPCA) may be based on a thorough medical exam; the presence of signs and symptoms; imaging studies; various laboratory tests; and an evaluation of the family history. MRI of the brain may show characteristics of OPCA, such as sp... |
information | What is (are) Spinal Muscular Atrophy ? | Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. These cells communicate with your voluntary muscles - the ones you can control, like in your arms and legs. As the neurons die, the muscles weaken. This can affect walking, crawling, breathing, swallow... |
exams and tests | How to diagnose Cardiomyopathy ? | Your doctor will diagnose cardiomyopathy based on your medical and family histories, a physical exam, and the results from tests and procedures.
Specialists Involved
Often, a cardiologist or pediatric cardiologist diagnoses and treats cardiomyopathy. A cardiologist specializes in diagn... |
treatment | What are the treatments for congenital hypothyroidism ? | 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 ... |
genetic changes | What are the genetic changes related to desmosterolosis ? | Desmosterolosis is caused by mutations in the DHCR24 gene. This gene provides instructions for making an enzyme called 24-dehydrocholesterol reductase, which is involved in the production (synthesis) of cholesterol. Cholesterol is a waxy, fat-like substance that can be obtained from foods that come from animals (partic... |
information | What is (are) Gaucher disease ? | Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features. Type 1 Gaucher disease is the most common for... |
symptoms | What are the symptoms of Lenz Majewski hyperostotic dwarfism ? | What are the signs and symptoms of Lenz Majewski hyperostotic dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz Majewski hyperostotic dwarfism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
treatment | What are the treatments for Alkhurma Hemorrhagic Fever (AHF) ? | There is no standard specific treatment for the disease. Patients receive supportive therapy, which consists of balancing the patient’s fluid and electrolytes, maintaining oxygen status and blood pressure, and treatment for any complications. Mortality in hospitalized patients ranges from 1-20%. |
information | What is (are) West syndrome ? | West syndrome is characterized by a specific type of seizure (infantile spasms) seen in infancy and childhood. This syndrome leads to developmental regression and causes a specific pattern, known as hypsarrhythmia (chaotic brain waves), on electroencephalography (EEG) testing. The infantile spasms usually begin in the ... |
inheritance | Is hereditary sensory and autonomic neuropathy type V 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. |
exams and tests | How to diagnose Eosinophilic enteropathy ? | How is eosinophilic enteropathy diagnosed? Endoscopy and biopsy is the only way to confirm the diagnosis of eosinophilic enteropathy. During an endoscopy, a gastroenterologist looks at the gastrointestinal tract through an endoscope and takes multiple small samples (biopsies), which a pathologist reviews. A high number... |
symptoms | What are the symptoms of Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ? | What are the signs and symptoms of Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. If the information is available, the table below includes how often the symptom ... |
complications | What are the complications of Inguinal Hernia ? | Inguinal hernias can cause the following complications:
- Incarceration. An incarcerated hernia happens when part of the fat or small intestine from inside the abdomen becomes stuck in the groin or scrotum and cannot go back into the abdomen. A health care provider is unable to massage the hernia back ... |
information | What is (are) essential thrombocythemia ? | Essential thrombocythemia is a condition characterized by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cell fragments involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets. Abnormal bloo... |
susceptibility | Who is at risk for Thalassemias? ? | Family history and ancestry are the two risk factors for thalassemias.
Family History
Thalassemias are inheritedthat is, the genes for the disorders are passed from parents to their children. If your parents have missing or altered hemoglobin-making genes, you may have thalassemia.
... |
information | 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 ... |
symptoms | What are the symptoms of Microcephaly deafness syndrome ? | What are the signs and symptoms of Microcephaly deafness syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly deafness 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 Med... |
treatment | What are the treatments for factor V deficiency ? | These resources address the diagnosis or management of factor V deficiency: - Genetic Testing Registry: Factor V deficiency - MedlinePlus Encyclopedia: Factor V Deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug ... |
treatment | What are the treatments for Zellweger spectrum disorder ? | These resources address the diagnosis or management of Zellweger spectrum disorder: - Gene Review: Gene Review: Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum - Genetic Testing Registry: Infantile Refsum's disease - Genetic Testing Registry: Neonatal adrenoleucodystrophy - Genetic Testing Registry: Pe... |
genetic changes | What are the genetic changes related to laryngo-onycho-cutaneous syndrome ? | LOC syndrome is caused by mutations in the LAMA3 gene, which provides instructions for making one part (subunit) of a protein called laminin 332. This protein is made up of three subunits, called alpha, beta, and gamma. The LAMA3 gene carries instructions for the alpha subunit; the beta and gamma subunits are produced ... |
information | What is (are) heterotaxy syndrome ? | Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term "heterotaxy" is from the Greek words "heteros," meaning "other than," and "taxis," meaning "arrangement." Individuals with this condition have complex birth defects affecting the heart, lungs, live... |
treatment | What are the treatments for Thyroglossal tract cyst ? | How might a thyroglossal duct cyst be treated? Surgical excision is the treatment of choice for uncomplicated thyroglossal duct cysts to prevent infection of the cyst. The Sistrunk procedure can be preformed to reduce the risk of recurrence. Infection of the cyst prior to surgery can make the removal more difficult and... |
frequency | How many people are affected by spastic paraplegia type 7 ? | The prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 7 likely accounts for only a small percentage of all spastic paraplegia cases. |
information | What is (are) Ureteral Disorders ? | Your kidneys make urine by filtering wastes and extra water from your blood. The urine travels from the kidneys to the bladder in two thin tubes called ureters. The ureters are about 8 to 10 inches long. Muscles in the ureter walls tighten and relax to force urine down and away from the kidneys. Small amounts of uri... |
exams and tests | How to diagnose High Blood Pressure ? | For most patients, health care providers diagnose high blood pressure when blood pressure readings areconsistently 140/90 mmHg or above.
Confirming High Blood Pressure
A blood pressure test is easy and painless and can be done in a health care providers office or clinic. To prepare for... |
exams and tests | How to diagnose Deep Vein Thrombosis ? | Your doctor will diagnose deep vein thrombosis (DVT) based on your medical history, a physical exam, and test results. He or she will identify your risk factors and rule out other causes of your symptoms.
For some people, DVT might not be diagnosed until after they receive emergency treatment for pulmo... |
information | What is (are) Nasopharyngeal Cancer ? | Key Points
- Nasopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the nasopharynx. - Ethnic background and being exposed to the Epstein-Barr virus can affect the risk of nasopharyngeal cancer. - Signs of nasopharyngeal cancer include trouble breathing, s... |
frequency | How many people are affected by sudden infant death with dysgenesis of the testes syndrome ? | SIDDT has been diagnosed in more than 20 infants from a single Old Order Amish community in Pennsylvania. The condition has not been reported outside this community. |
information | What is (are) Cornelia de Lange syndrome ? | Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Cornelia de Lange syndrome is characterized by slow growth before and after birth leading to short stature; intellec... |
treatment | What are the treatments for Chromosome 3p- syndrome ? | How might chromosome 3p- syndrome be treated? Because chromosome 3p- syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, ... |
exams and tests | How to diagnose Hemochromatosis ? | Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures.
The disease sometimes is detected while checking for other diseases or conditions, such as arthritis, liver disease, diabetes, heart disease, or erectile dys... |
genetic changes | What are the genetic changes related to 1p36 deletion syndrome ? | 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. The signs and symptoms of 1p36 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. |
inheritance | Is Wolf-Hirschhorn syndrome inherited ? | Between 85 and 90 percent of all cases of Wolf-Hirschhorn syndrome are not inherited. They result from a chromosomal deletion that occurs as a random (de novo) event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. More complex chromosomal rearrangements can also occur as de... |
outlook | What is the outlook for Foot Drop ? | The prognosis for foot drop depends on the cause. Foot drop caused by trauma or nerve damage usually shows partial or even complete recovery. For progressive neurological disorders, foot drop will be a symptom that is likely to continue as a lifelong disability, but it will not shorten life expectancy. |
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