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6,498 | What is (are) Isovaleric acidemia ? | Isovaleric acidemia (IVA) is a type of organic acid disorder in which affected individuals have problems breaking down an amino acid called leucine from the food they eat. Signs and symptoms may range from very mild to life-threatening. In severe cases, symptoms begin within a few days of birth and include poor feeding... |
14,506 | What causes Quitting Smoking for Older Adults ? | Yes. Smoking is the leading cause of cancer in the United States, and it increases the risk of many types of cancer, including - lung cancer - throat cancer - mouth cancer - nasal cavity cancer (cancer in the airways of the nose) - esophageal cancer (cancer of the esophagus) - stomach cancer - pancreatic canc... |
6,846 | What is (are) Eosinophilic enteropathy ? | Eosinophilic enteropathy is a condition that causes a type of white blood cell called an eosinophil to build up in the gastrointestinal system and in the blood. Eosinophils play a role in the bodys immune response by releasing toxins. Eosinophils are associated with allergic-type reactions, but their specific function ... |
3,723 | Is renal tubular dysgenesis inherited ? | Renal tubular dysgenesis is inherited in an autosomal recessive pattern, which means both copies of the affected gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the conditio... |
14,354 | What is (are) COPD ? | More information on COPD is available at: What is COPD? and at the Learn More, Breathe Better Campaign For information on quitting smoking, visit http://www.surgeongeneral.gov/tobacco/ or Smokefree.gov. For information on the H1N1 flu and COPD, go to The Centers for Disease Control and Prevention. |
2,188 | Is anhidrotic ectodermal dysplasia with immune deficiency inherited ? | When EDA-ID is caused by mutations in the IKBKG gene, it is inherited in an X-linked recessive pattern. The IKBKG gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In fe... |
7,831 | What are the symptoms of Hypermanganesemia with dystonia polycythemia and cirrhosis ? | What are the signs and symptoms of Hypermanganesemia with dystonia polycythemia and cirrhosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypermanganesemia with dystonia polycythemia and cirrhosis. If the information is available, the table below includes how often the symptom is... |
4,224 | What are the treatments for Buschke-Ollendorff syndrome ? | These resources address the diagnosis or management of Buschke-Ollendorff syndrome: - Genetic Testing Registry: Dermatofibrosis lenticularis disseminata These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery a... |
14,075 | What is (are) Foot Injuries and Disorders ? | Each of your feet has 26 bones, 33 joints, and more than 100 tendons, muscles, and ligaments. No wonder a lot of things can go wrong. Here are a few common problems: - Bunions - hard, painful bumps on the big toe joint - Corns and calluses - thickened skin from friction or pressure - Plantar warts - warts... |
4,030 | What is (are) spondylothoracic dysostosis ? | Spondylothoracic dysostosis is a condition characterized by the malformation of the bones of the spine and ribs. The bones of the spine (vertebrae) do not develop properly, which causes them to be misshapen and abnormally joined together (fused). The ribs are also fused at the part nearest the spine (posteriorly), whic... |
2,333 | Is Beckwith-Wiedemann syndrome inherited ? | In about 85 percent of cases of Beckwith-Wiedemann syndrome, only one person in a family has been diagnosed with the condition. However, parents of one child with Beckwith-Wiedemann syndrome may be at risk of having other children with the disorder. This risk depends on the genetic cause of the condition. Another 10 t... |
9,577 | What are the symptoms of LCHAD deficiency ? | What are the signs and symptoms of LCHAD deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for LCHAD 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 ... |
8,807 | What are the symptoms of Sonoda syndrome ? | What are the signs and symptoms of Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sonoda 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... |
9,252 | What causes Achondroplasia ? | What causes achondroplasia? Achondroplasia is 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. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researc... |
31 | How many people are affected by Stickler syndrome ? | Stickler syndrome affects an estimated 1 in 7,500 to 9,000 newborns. Type I is the most common form of the condition. |
9,550 | What causes Hypokalemic periodic paralysis ? | What causes hypokalemic periodic paralysis? Hypokalemic periodic paralysis is caused by mutations in the CACNA1S and SCN4A genes. The CACNA1S and SCN4A genes provide instructions for making proteins that play an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles... |
7,846 | What are the symptoms of Polyglucosan body disease, adult ? | What are the signs and symptoms of Polyglucosan body disease, adult? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyglucosan body disease, adult. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... |
5,139 | What are the treatments for osteogenesis imperfecta ? | These resources address the diagnosis or management of osteogenesis imperfecta: - Gene Review: Gene Review: COL1A1/2-Related Osteogenesis Imperfecta - Genetic Testing Registry: Osteogenesis imperfecta - Genetic Testing Registry: Osteogenesis imperfecta type 5 - Genetic Testing Registry: Osteogenesis imperfecta type... |
15,907 | What are the complications of Acquired Cystic Kidney Disease ? | People with acquired cystic kidney disease may develop the following complications:
- an infected cyst, which can cause fever and back pain. - blood in the urine, which can signal that a cyst in the kidney is bleeding. - tumors in the kidneys. People with acquired cystic kidney disease are more likel... |
824 | What are the treatments for glutamate formiminotransferase deficiency ? | These resources address the diagnosis or management of glutamate formiminotransferase deficiency: - Baby's First Test - Genetic Testing Registry: Glutamate formiminotransferase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti... |
7,015 | What are the symptoms of Graham Boyle Troxell syndrome ? | What are the signs and symptoms of Graham Boyle Troxell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Graham Boyle Troxell 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 Medli... |
9,477 | What is (are) Herpes simplex encephalitis ? | Herpes simplex encephalitis is a rare neurological condition that is characterized by inflammation of the brain (encephalitis). People affected by this condition may experience a headache and fever for up to 5 days, followed by personality and behavioral changes; seizures; hallucinations; and altered levels of consciou... |
3,815 | What is (are) erythrokeratodermia variabilis et progressiva ? | Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features. The first is areas of hyperkeratosis, which is rough, thickened skin. These thickened patches are u... |
8,667 | What are the symptoms of Cataract, posterior polar, 1 ? | What are the signs and symptoms of Cataract, posterior polar, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, posterior polar, 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 Medline... |
4,989 | What are the treatments for tuberous sclerosis complex ? | These resources address the diagnosis or management of tuberous sclerosis complex: - Gene Review: Gene Review: Tuberous Sclerosis Complex - Genetic Testing Registry: Tuberous sclerosis syndrome - MedlinePlus Encyclopedia: Tuberous Sclerosis - Tuberous Sclerosis Alliance: TSC Clinics These resources from MedlinePl... |
11,305 | What is (are) Multi-Infarct Dementia ? | Multi-infarct dementia (MID) is a common cause of memory loss in the elderly. MID is caused by multiple strokes (disruption of blood flow to the brain). Disruption of blood flow leads to damaged brain tissue. Some of these strokes may occur without noticeable clinical symptoms. Doctors refer to these as silent strokes.... |
15,509 | What are the symptoms of Lupus Nephritis ? | The symptoms of lupus nephritis may include high blood pressure, foamy urine, and edemaswelling, usually in the legs, feet, or ankles and less often in the hands or face.
Kidney problems often develop at the same time or shortly after lupus symptoms appear and can include
- joint pain ... |
13,487 | What is (are) Breast Diseases ? | Most women experience breast changes at some time. Your age, hormone levels, and medicines you take may cause lumps, bumps, and discharges (fluids that are not breast milk). If you have a breast lump, pain, discharge or skin irritation, see your health care provider. Minor and serious breast problems have similar sy... |
6,507 | What are the symptoms of Blount disease ? | What are the signs and symptoms of Blount disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Blount 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 l... |
14,893 | How to prevent Hearing Loss ? | Washing your hands frequently can help prevent upper respiratory infections, which can lead to an ear infection called otitis media. The ear infection otitis media can be a cause of long-term hearing loss. Also, ask your doctor about a yearly flu shot to help prevent flu-related ear infections. If you still get an ear ... |
1,994 | What are the treatments for Angelman syndrome ? | These resources address the diagnosis or management of Angelman syndrome: - Gene Review: Gene Review: Angelman Syndrome - Genetic Testing Registry: Angelman syndrome - MedlinePlus Encyclopedia: Speech Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health ... |
11,295 | What is (are) Dystonias ? | The dystonias are movement disorders in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The movements, which are involuntary and sometimes painful, may affect a single muscle; a group of muscles such as those in the arms, legs, or neck; or the entire body. Early symptom... |
6,178 | What is (are) Glutaric acidemia type II ? | Glutaric acidemia type II (GA2) is a disorder that interferes with the body's ability to break down proteins and fats to produce energy. The severity of GA2 varies widely among affected individuals. Some have a very severe form which appears in the neonatal period and may be fatal; individuals with this form may be bor... |
8,299 | What are the treatments for Zika virus infection ? | How might a Zika virus infection be treated? There is no vaccine to prevent Zika virus infections, nor is there a specific medicine to treat Zika. Individuals infected with the Zika virus should get plenty of rest, drink fluids, and take medications such as acetaminophen for pain. Aspirin and other nonsteroidal anti-in... |
3,308 | Is auriculo-condylar syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is typically sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with ... |
5,336 | How many people are affected by Proteus syndrome ? | Proteus syndrome is a rare condition with an incidence of less than 1 in 1 million people worldwide. Only a few hundred affected individuals have been reported in the medical literature. Researchers believe that Proteus syndrome may be overdiagnosed, as some individuals with other conditions featuring asymmetric overg... |
2,980 | What is (are) neurohypophyseal diabetes insipidus ? | Neurohypophyseal diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with neurohypophyseal diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected people need to ... |
5,614 | What are the symptoms of Aortic arch anomaly - peculiar facies - intellectual disability ? | What are the signs and symptoms of Aortic arch anomaly - peculiar facies - intellectual disability? The Human Phenotype Ontology provides the following list of signs and symptoms for Aortic arch anomaly - peculiar facies - intellectual disability. If the information is available, the table below includes how often the ... |
990 | What is (are) spondyloenchondrodysplasia with immune dysregulation ? | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an inherited condition that primarily affects bone growth and immune system function. The signs and symptoms of SPENCDI can become apparent anytime from infancy to adolescence. Bone abnormalities in individuals with SPENCDI include flattened spinal bone... |
5,280 | What is (are) GRACILE syndrome ? | GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death. In GRACILE syndrome, growth before birth is slow (intrauterine growth retardation). Affected newbo... |
10,821 | What is the outlook for Multiple System Atrophy ? | The disease tends to advance rapidly over the course of 5 to 10 years, with progressive loss of motor skills, eventual confinement to bed, and death. There is no remission from the disease. There is currently no cure. |
15,482 | How to diagnose Graves' Disease ? | Health care providers can sometimes diagnose Graves disease based only on a physical examination and a medical history. Blood tests and other diagnostic tests, such as the following, then confirm the diagnosis.
TSH test. The ultrasensitive TSH test is usually the first test performed. This test detects... |
10,558 | What are the symptoms of Odontoma dysphagia syndrome ? | What are the signs and symptoms of Odontoma dysphagia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Odontoma dysphagia 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 MedlinePl... |
4,089 | What are the treatments for choroideremia ? | These resources address the diagnosis or management of choroideremia: - Gene Review: Gene Review: Choroideremia - Genetic Testing Registry: Choroideremia - MedlinePlus Encyclopedia: Vision - night blindness - MedlinePlus Encyclopedia: Visual field These resources from MedlinePlus offer information about the diagn... |
1,947 | What are the genetic changes related to hyperprolinemia ? | Mutations in the ALDH4A1 and PRODH genes cause hyperprolinemia. Inherited hyperprolinemia is caused by deficiencies in the enzymes that break down (degrade) proline. Hyperprolinemia type I is caused by a mutation in the PRODH gene, which provides instructions for producing the enzyme proline oxidase. This enzyme begin... |
16,335 | What is (are) Diabetic Kidney Disease ? | The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, 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. The urine flows from the kidneys... |
6,192 | What are the symptoms of Silicosis ? | What are the symptoms of silicosis? Symptoms of silicosis may include: Chronic cough Shortness of breath with exercise, usually in patients who have progressive massive fibrosis Weakness Other symptoms of this disease, especially in acute silicosis, may also include: Cough Fever Severe breathing difficulty Weight los... |
14,532 | Who is at risk for Prostate Cancer? ? | Yes. Race is another major risk factor. In the United States, this disease is much more common in African American men than in any other group of men. It is least common in Asian and American Indian men. A man's risk for developing prostate cancer is higher if his father or brother has had the disease. Diet also may pl... |
2,766 | How many people are affected by Holt-Oram syndrome ? | Holt-Oram syndrome is estimated to affect 1 in 100,000 individuals. |
5,309 | What are the treatments for mandibuloacral dysplasia ? | These resources address the diagnosis or management of mandibuloacral dysplasia: - Genetic Testing Registry: Mandibuloacral dysostosis - Genetic Testing Registry: Mandibuloacral dysplasia with type B lipodystrophy These resources from MedlinePlus offer information about the diagnosis and management of various healt... |
6,647 | What is (are) Monoclonal mast cell activation syndrome ? | Monoclonal mast cell activation syndrome (MMAS) is a rare immunological disorder characterized by recurrent episodes of allergy, flushing, stomach and intestinal cramping, diarrhea, wheezing, fatigue and a temporary loss of consciousness caused by a fall in blood pressure (hypotension). MMAS is very similar to systemic... |
8,690 | What are the symptoms of Muckle-Wells syndrome ? | What are the signs and symptoms of Muckle-Wells syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Muckle-Wells 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 D... |
976 | How many people are affected by cone-rod dystrophy ? | Cone-rod dystrophy is estimated to affect 1 in 30,000 to 40,000 individuals. |
8,173 | What are the symptoms of Pontocerebellar hypoplasia type 2 ? | What are the signs and symptoms of Pontocerebellar hypoplasia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... |
10,766 | What are the symptoms of Blepharophimosis with ptosis, syndactyly, and short stature ? | What are the signs and symptoms of Blepharophimosis with ptosis, syndactyly, and short stature? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis with ptosis, syndactyly, and short stature. If the information is available, the table below includes how often the symptom ... |
8,101 | What are the treatments for WaterhouseFriderichsen syndrome ? | How might Waterhouse-Friderichsen syndrome be treated? Treatment may include antibiotics and glucocorticoids. Other treatment is symptomatic and supportive. |
16,401 | How to diagnose What I need to know about Cirrhosis ? | Your doctor will examine you and may perform
- blood tests to see whether your liver is working properly - imaging tests, which may show the size of your liver and show swelling or shrinkage - a liver biopsy, in which a doctor uses a needle to take a small piece of liver tissue to view with a micro... |
12,167 | What are the stages of Nasopharyngeal Cancer ? | Key Points
- After nasopharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the nasopharynx or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body.... |
10,588 | What are the treatments for Neonatal progeroid syndrome ? | How might neonatal progeroid syndrome be treated? Because neonatal progeroid syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment varies based on the signs and symptoms present in each person. For example, a feeding ... |
12,656 | How to prevent Cardiogenic Shock ? | The best way to prevent cardiogenic shock is to lower your risk for coronary heart disease (CHD) and heart attack. (For more information, go to the National Heart, Lung, and Blood Institute's "Your Guide to a Healthy Heart.")
If you already have CHD, its important to get ongoing treatment from a doctor... |
2,398 | Is warfarin resistance inherited ? | The polymorphisms associated with this condition are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to result in warfarin resistance. However, different polymorphisms affect the activity of warfarin to varying degrees. Additionally, people who have more t... |
3,958 | Is inherited thyroxine-binding globulin deficiency inherited ? | Inherited thyroxine-binding globulin deficiency has an X-linked pattern of inheritance. The SERPINA7 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes partial or complete inherited thyroxi... |
1,736 | How many people are affected by Down syndrome ? | Down syndrome occurs in about 1 in 800 newborns. About 5,300 babies with Down syndrome are born in the United States each year, and an estimated 250,000 people in this country have the condition. Although women of any age can have a child with Down syndrome, the chance of having a child with this condition increases as... |
15,340 | What are the treatments for Adrenal Insufficiency and Addison's Disease ? | Adrenal insufficiency is treated by replacing, or substituting, the hormones that the adrenal glands are not making. The dose of each medication is adjusted to meet the needs of the patient.
Cortisol is replaced with a corticosteroid, such as hydrocortisone, prednisone, or dexamethasone, taken orally o... |
1,968 | Is spastic paraplegia type 11 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. |
5,250 | What is (are) 15q13.3 microdeletion ? | 15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric d... |
11,248 | What are the treatments for Sotos Syndrome ? | There is no standard course of treatment for Sotos syndrome. Treatment is symptomatic. |
208 | Is X-linked infantile nystagmus inherited ? | This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the... |
8,709 | What is (are) Limited systemic sclerosis ? | Systemic sclerosis ine scleroderma is a type of systemic scleroderma that is characterized by Raynaud's phenomenon and the buildup of scar tissue (fibrosis) on one or more internal organs but not the skin. While the exact cause of sine scleroderma is unknown, it is believed to originate from an autoimmune reaction whic... |
12,060 | What is (are) Merkel Cell Carcinoma ? | Key Points
- Merkel cell carcinoma is a very rare disease in which malignant (cancer) cells form in the skin. - Sun exposure and having a weak immune system can affect the risk of Merkel cell carcinoma. - Merkel cell carcinoma usually appears as a single painless lump on sun-exposed skin. -... |
10,545 | What is (are) Accessory navicular bone ? | An accessory navicular bone is a small bone located in the middle of the foot. It is near the navicular bone, the bone that goes across the foot near the instep. It is a common trait, estimated to be in approximately 2 to 12% of the general population and up to 14% of children. This bone may develop a bump that can cau... |
4,836 | How many people are affected by Freeman-Sheldon syndrome ? | Freeman-Sheldon syndrome is a rare disorder; its exact prevalence is unknown. |
8,947 | What is (are) Proteus syndrome ? | Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth can cause differences in appearance and with time, an increased risk for blood clots and tumors. It is caused by a change (mutation) in the AKT1 gene. It is not inherited, but occurs as a random mutation in a body cel... |
6,443 | What are the symptoms of Pityriasis rubra pilaris ? | What are the signs and symptoms of Pityriasis rubra pilaris? Features of this condition vary greatly between affected individuals. The onset is gradual in the familial type and can be more rapid in the acquired type. Redness and scaling of the face and scalp are often seen first, followed by redness and thickening of t... |
15,963 | What is (are) What I need to know about Gestational Diabetes ? | Your chances of getting gestational diabetes are higher if you
- are overweight - have had gestational diabetes before - have given birth to a baby weighing more than 9 pounds - have a parent, brother, or sister with type 2 diabetes - have prediabetes, meaning your blood glucose levels are higher t... |
6,254 | What are the treatments for Syringoma ? | How are syringomas treated? People with syringomas have a variety of treatment options, for example pulsed ablative laser (CO2 or erbium) or light electrocoagulation using a fine epilating needle. To learn more about these and other syringoma treatment options we recommend speaking with your healthcare provider. |
6,515 | What is (are) Myhre syndrome ? | Myhre syndrome is a rare inherited disorder characterized by intellectual disability, short stature, unusual facial features, and various bone (skeletal) abnormalities. Other findings may include hearing impairment, abnormal enlargement of the muscles (muscle hypertrophy), and/or joint stiffness. Myhre syndrome is caus... |
11,643 | What is (are) Hydrocephalus ? | Hydrocephalus is a condition in which the primary characteristic is excessive accumulation of cerebrospinal fluid (CSF) -- the clear fluid that surrounds the brain and spinal cord. This excessive accumulation results in an abnormal dilation of the spaces in the brain called ventricles. This dilation causes potentially ... |
4,424 | What are the treatments for Treacher Collins syndrome ? | These resources address the diagnosis or management of Treacher Collins syndrome: - Gene Review: Gene Review: Treacher Collins Syndrome - Genetic Testing Registry: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive - Genetic Testing Registry: Treacher Collins syndrome - Genetic Testing Registry:... |
4,795 | What is (are) chronic atrial and intestinal dysrhythmia ? | Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the heart and the digestive system. CAID disrupts the normal rhythm of the heartbeat; affected individuals have a heart rhythm abnormality called sick sinus syndrome. The disorder also impairs the rhythmic muscle contractions that propel food thro... |
5,535 | What is (are) Juvenile retinoschisis ? | Juvenile retinoschisis is an eye condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. The condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. This affects the sharpness of vision. Central vision is more common... |
15,842 | How to diagnose Your Diabetes Care Records ? | Test Instructions Results or Dates A1C test - Have this blood test at least twice a year. Your result will tell you what your average blood glucose level was for the past 2 to 3 months. Date: __________ A1C: __________ Next test: __________ Blood lipid (fats) lab tests... |
13,584 | Do you have information about Immunization | Summary : Shots may hurt a little, but the diseases they can prevent are a lot worse. Some are even life-threatening. Immunization shots, or vaccinations, are essential. They protect against things like measles, mumps, rubella, hepatitis B, polio, tetanus, diphtheria, and pertussis (whooping cough). Immunizations are i... |
1,069 | What are the treatments for central core disease ? | These resources address the diagnosis or management of central core disease: - Gene Review: Gene Review: Central Core Disease - Genetic Testing Registry: Central core disease - MedlinePlus Encyclopedia: Hypotonia - MedlinePlus Encyclopedia: Malignant Hyperthermia These resources from MedlinePlus offer information... |
13,099 | How to diagnose Mitral Valve Prolapse ? | Mitral valve prolapse (MVP) most often is detected during a routine physical exam. During the exam, your doctor will listen to your heart with a stethoscope.
Stretched valve flaps can make a clicking sound as they shut. If the mitral valve is leaking blood back into the left atrium, your doctor may hea... |
4,509 | What are the treatments for Fanconi anemia ? | These resources address the diagnosis or management of Fanconi anemia: - Cincinnati Children's Hospital: Fanconi Anemia Comprehensive Care Center - Fanconi Anemia Research Fund: Fanconi Anemia Guidelines for Diagnosis and Management - Gene Review: Gene Review: Fanconi Anemia - Genetic Testing Registry: Fanconi anem... |
465 | What is (are) X-linked intellectual disability, Siderius type ? | X-linked intellectual disability, Siderius type is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed. Individuals with X-linked intellectual disability, Siderius ty... |
2,753 | Is Turner syndrome inherited ? | Most cases of Turner syndrome are not inherited. When this condition results from monosomy X, the chromosomal abnormality occurs as a random event during the formation of reproductive cells (eggs and sperm) in the affected person's parent. An error in cell division called nondisjunction can result in reproductive cells... |
5,447 | What are the symptoms of Torsion dystonia with onset in infancy ? | What are the signs and symptoms of Torsion dystonia with onset in infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Torsion dystonia with onset in infancy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... |
10,874 | what research (or clinical trials) is being done for Neurosyphilis ? | The National Institute of Neurological Disorders and Stroke supports and conducts research on neurodegenerative disorders, such as neurosyphilis, in an effort to find ways to prevent, treat, and ultimately cure these disorders. |
4,383 | Is juvenile idiopathic arthritis inherited ? | Most cases of juvenile idiopathic arthritis are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases of juvenile idiopathic arthritis have been reported to run in families, although the inheritance pattern of the condition is unclear. A sibling of a per... |
7,518 | What is (are) Carbon baby syndrome ? | Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown. |
6,264 | What is (are) Charcot-Marie-Tooth disease type 1A ? | Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused by ... |
6,222 | What are the symptoms of Spinocerebellar ataxia 31 ? | What are the signs and symptoms of Spinocerebellar ataxia 31? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 31. 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... |
9,465 | What are the treatments for Stiff person syndrome ? | How might stiff person syndrome be treated? Treatment of stiff person syndrome (SPS) focuses on the specific symptoms present in each person. Benzodiazepines may be used to treat muscle stiffness and episodic spasms; baclofen may be used in addition to benzodiazepines. Anti-seizure drugs have reportedly been effective ... |
7,442 | What are the symptoms of WAGR syndrome ? | What are the signs and symptoms of WAGR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WAGR 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... |
8,287 | What are the treatments for CADASIL ? | How might CADASIL be treated? There is currently no treatment for CADASIL that is proven to be effective. While antiplatelet treatment is often used, it is also not proven to be useful. Migraine should be treated both symptomatically and prophylactically (with preventative methods), depending on the frequency of sympto... |
12,632 | What is the outlook for Adult Soft Tissue Sarcoma ? | Certain factors affect treatment options and prognosis (chance of recovery). The treatment options and prognosis (chance of recovery) depend on the following: - The type of soft tissue sarcoma. - The size, grade, and stage of the tumor. - How fast the cancer cells are growing and dividing. - Where the... |
2,136 | How many people are affected by Brooke-Spiegler syndrome ? | Brooke-Spiegler syndrome is a rare disorder; its prevalence is unknown. |
11,646 | what research (or clinical trials) is being done for Hydrocephalus ? | The NINDS conducts and supports a wide range of fundamental studies that explore the complex mechanisms of normal brain development. Much of this research focuses on finding better ways to protect, treat, and ultimately cure disorders such as hydrocephalus. |
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