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Cysticercosis is an infection caused by the larvae of the parasite Taenia solium. This infection occurs after a person swallows tapeworm eggs. The larvae get into tissues such as muscle and brain, and form cysts there (these are called cysticerci). When cysts are found in the brain, the condition is called neurocysticercosis.
Costello syndrome is a rare condition that affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Affected people may also have heart abnormalities such as tachycardia, structural heart defects, and hypertrophic cardiomyopathy. Beginning in early childhood, people with Costello syndrome are at an increased risk of developing certain cancerous and noncancerous tumors. Costello syndrome is caused by changes (mutations) in the HRAS gene. It is considered an autosomal dominant condition; however, almost all reported cases are the result of de novo gene mutations and occur in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.
How might craniometaphyseal dysplasia be treated? Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrowth is common. Individuals with craniometaphyseal dysplasia should have regular neurologic evaluations, hearing assessments, and ophthalmologic examinations. The frequency of these evaluations and assessments should be determined by the individual's history and severity of skeletal changes.
You can do a lot to reduce your risk of getting type 2 diabetes. Being more physically active, reducing fat and calorie intake, and losing a little weight can help you lower your chances of developing type 2 diabetes. Taking the diabetes medicine metformin can also reduce risk, particularly in younger and heavier people with prediabetes and women who have had gestational diabetes. Lowering blood pressure and cholesterol levels also helps you stay healthy. If you are overweight, then take these steps: - Reach and maintain a reasonable body weight. Even a 10 or 15 pound weight loss makes a big difference. - Make wise food choices most of the time. - Be physically active every day. If you are fairly inactive, then take this step: - Be physically active every day. If your blood pressure is too high, then take these steps: - Reach and maintain a reasonable body weight. - Make wise food choices most of the time. - Reduce your sodium and alcohol intake. - Be physically active every day. - Talk with your doctor about whether you need medicine to control your blood pressure. If your cholesterol or triglyceride levels are too high, then take these steps: - Make wise food choices most of the time. - Be physically active every day. - Talk with your doctor about whether you need medicine to control your cholesterol levels.
Spinal cord injuries are classified as either complete or incomplete. An incomplete injury means that the ability of the spinal cord to convey messages to or from the brain is not completely lost. People with incomplete injuries retain some motor or sensory function below the injury. A complete injury is indicated by a total lack of sensory and motor function below the level of injury. People who survive a spinal cord injury will most likely have medical complications such as chronic pain and bladder and bowel dysfunction, along with an increased susceptibility to respiratory and heart problems. Successful recovery depends upon how well these chronic conditions are handled day to day. Surgery to relieve compression of the spinal tissue by surrounding bones broken or dislocated by the injury is often necessary, through timing of such surgery may vary widely. A recent prospective multicenter trial called STASCIS is exploring whether performing decompression surgery early (less than 24 hours following injury) can improve outcomes for patients with bone fragments or other tissues pressing on the spinal cord.
Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It usually is characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. It may first become apparent from 3 months of age to 12 years of age. UHS is likely inherited in an autosomal dominant manner with reduced penetrance. A responsible gene has not yet been identified. The condition often spontaneously regresses in late childhood.
15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders; and autism spectrum disorder. Other features may include birth defects and seizures. However, some people have no apparent physical, learning, or behavior problems. A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. Treatment depends on the signs and symptoms in each person.
Thrombotic thrombocytopenic purpura (TTP) is a rare disorder. Most cases of TTP are acquired. Acquired TTP mostly occurs in adults, but it can affect children. The condition occurs more often in women and in Black people than in other groups. Inherited TTP mainly affects newborns and children. Most people who have inherited TTP begin to have symptoms soon after birth. Some, however, don't have symptoms until they're adults. It isn't clear what triggers inherited and acquired TTP, but some factors may play a role. These factors may include: Some diseases and conditions, such as pregnancy, cancer, HIV, lupus, and infections Some medical procedures, such as surgery and blood and marrow stem cell transplant Some medicines, such as chemotherapy, ticlopidine, clopidogrel, cyclosporine A, and hormone therapy and estrogens Quinine, which is a substance often found in tonic water and nutritional health products
Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. One result is that cysts (fluid-filled sacs) develop on the ovaries. Women who are obese are more likely to have polycystic ovary syndrome. Symptoms of PCOS include: - Infertility - Pelvic pain - Excess hair growth on the face, chest, stomach, thumbs, or toes - Baldness or thinning hair - Acne, oily skin, or dandruff - Patches of thickened dark brown or black skin Women with PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. Medicines can help control the symptoms. Birth control pills help women have normal periods, reduce male hormone levels, and clear acne. Other medicines can reduce hair growth and control blood pressure and cholesterol. There is no cure. NIH: National Institute of Child Health and Human Development
The nerve damage of diabetes may cause sexual or urologic problems. - Sexual problems in men with diabetes include - erectile dysfunction - retrograde ejaculation - Sexual problems in women with diabetes include - decreased vaginal lubrication and uncomfortable or painful intercourse - decreased or no sexual desire - decreased or absent sexual response - Urologic problems in men and women with diabetes include - bladder problems related to nerve damage, such as overactive bladder, poor control of sphincter muscles, and urine retention - urinary tract infections - Controlling diabetes through diet, physical activity, and medications as needed can help prevent sexual and urologic problems. - Treatment is available for sexual and urologic problems.
The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The movement of muscles in the GI tract, along with the release of hormones and enzymes, allows for the digestion of food. Organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestinewhich includes the appendix, cecum, colon, and rectumand anus. The intestines are sometimes called the bowel. The last part of the GI tractcalled the lower GI tractconsists of the large intestine and anus. The large intestine absorbs water and any remaining nutrients from partially digested food passed from the small intestine. The large intestine then changes waste from liquid to a solid matter called stool. Stool passes from the colon to the rectum. The rectum is located between the last part of the coloncalled the sigmoid colonand the anus. The rectum stores stool prior to a bowel movement. During a bowel movement, stool moves from the rectum to the anus, the opening through which stool leaves the body.
Summary : In the U.S., the government's Food and Drug Administration (FDA) must approve any drug before it can be sold. This is true whether it's a prescription or an over-the-counter drug. The FDA evaluates the safety of a drug by looking at - Side effects - How it's manufactured - Results of animal testing and clinical trials The FDA also monitors a drug's safety after approval. For you, drug safety means buying online from only legitimate pharmacies and taking your medicines correctly.
Jervell and Lange-Nielsen syndrome is uncommon; it affects an estimated 1.6 to 6 per 1 million people worldwide. This condition has a higher prevalence in Denmark, where it affects at least 1 in 200,000 people.
What are the signs and symptoms of tracheobronchomalacia? Tracheobronchomalacia (TBM) is a condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM. Primary TBM (also called congenital TBM) typically develops during infancy or early childhood, while secondary TBM (also called acquired TBM) is usually seen in adults. Some affected people may initially have no signs or symptoms. However, the condition is typically progressive (becomes worse overtime) and many people will eventually develop characteristic features such as shortness of breath, cough, sputum retention (inability to clear mucus from the respiratory tract), and wheezing or stridor with breathing. Symptoms may become worse during periods of stress (i.e. illness), when reclining, or when forcing a cough. Infants and young children with TBM tend to have more frequent respiratory infections and delayed recovery from these illnesses.
Ewing sarcoma is a malignant (cancerous) bone tumor that affects children. It can occur any time during childhood and young adulthood, but usually develops during puberty, when bones are growing rapidly. The tumor may arise anywhere in the body, usually in the long bones of the arms and legs, the pelvis, or the chest. It may also develop in the skull or the flat bones of the trunk. There are few symptoms. The most common is pain and occasionally swelling at the site of the tumor. Fever may also be present. The tumor often spreads (metastasis) to the lungs and other bones. The cause of Ewing sarcoma is unknown. Most cases are thought to occur randomly and many involved a reciprocal translocation between chromosomes 11 and 22. Treatment depends upon a number of factors, but may include chemotherapy, radiation and/or surgical interventions.
CMAMMA appears to be a rare disease. Approximately a dozen cases have been reported in the scientific literature.
The causes of Kawasaki disease are not well understood. The disorder is generally regarded as being the result of an abnormal immune system activation, but the triggers of this abnormal response are unknown. Because cases of the disorder tend to cluster geographically and by season, researchers have suggested that an infection may be involved. However, no infectious agent (such as a virus or bacteria) has been identified. A variation in the ITPKC gene has been associated with an increased risk of Kawasaki disease. The ITPKC gene provides instructions for making an enzyme called inositol 1,4,5-trisphosphate 3-kinase C. This enzyme helps limit the activity of immune system cells called T cells. T cells identify foreign substances and defend the body against infection. Reducing the activity of T cells when appropriate prevents the overproduction of immune proteins called cytokines that lead to inflammation and which, in excess, cause tissue damage. Researchers suggest that the ITPKC gene variation may interfere with the body's ability to reduce T cell activity, leading to inflammation that damages blood vessels and results in the signs and symptoms of Kawasaki disease. It appears likely that other factors, including changes in other genes, also influence the development of this complex disorder.
- Mntriers disease causes the ridges along the inside of the stomach wallcalled rugaeto enlarge, forming giant folds in the stomach lining. The rugae enlarge because of an overgrowth of mucous cells in the stomach wall. - Scientists are unsure about what causes Mntriers disease; however, researchers think that most people acquire, rather than inherit, the disease. - Mntriers disease is rare. The disease is more common in men than in women. - The most common symptom of Mntriers disease is pain in the upper middle part of the abdomen. - Health care providers base the diagnosis of Mntriers disease on a combination of symptoms, lab findings, findings on upper gastrointestinal (GI) endoscopy, and stomach biopsy results. - Treatment may include medications, intravenous (IV) protein, blood transfusions, and surgery.
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, the layer of sensory cells that detect light and color, with masses of immature retinal cells accumulating at the back of the eye. As a result, the pupils appear white when light is shone on them, a sign called leukocoria. The irises (colored portions of the eyes) or the entire eyeballs may shrink and deteriorate during the first months of life, and cataracts (cloudiness in the lens of the eye) may eventually develop. About one third of individuals with Norrie disease develop progressive hearing loss, and more than half experience developmental delays in motor skills such as sitting up and walking. Other problems may include mild to moderate intellectual disability, often with psychosis, and abnormalities that can affect circulation, breathing, digestion, excretion, or reproduction.
Blepharophimosis, ptosis and epicanthus inversus syndrome type 1 (BPES I) is a condition, present at birth, that mainly effects the development of the eyelids. People with this condition have narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus), and an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited. Blepharophimosis syndrome type 1 also causes premature ovarian failure (POF). This condition is caused by mutations in the FOXL2 gene and is inherited in an autosomal dominant pattern.
Dandy-Walker malformation is estimated to affect 1 in 10,000 to 30,000 newborns.
These resources address the diagnosis or management of hypophosphatasia: - Gene Review: Gene Review: Hypophosphatasia - Genetic Testing Registry: Adult hypophosphatasia - Genetic Testing Registry: Childhood hypophosphatasia - Genetic Testing Registry: Hypophosphatasia - Genetic Testing Registry: Infantile hypophosphatasia - MedlinePlus Encyclopedia: Osteomalacia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of ADCY5-related dyskinesia: - Gene Review: Gene Review: ADCY5-Related Dyskinesia - Genetic Testing Registry: Dyskinesia, familial, with facial myokymia - National Ataxia Foundation: Movement Disorder Clinics These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Vitelliform macular dystrophy is a rare disorder; its incidence is unknown.
Depending on the cause of your smell disorder, your doctor may be able to treat your problem or suggest ways to cope with it. If a certain medication is the cause of the disorder, ask your doctor if you could substitute other medications or reduce the dose. Your doctor will work with you to get the medicine you need while trying to reduce unwanted side effects. Some patients with respiratory infections or allergies regain their sense of smell when the illness or condition is over. Often, correcting a general medical problem also can restore the sense of smell. For patients with nasal obstructions, such as polyps, or other inflammatory conditions of the nose or sinuses, medical treatments or surgery can restore the sense of smell. Occasionally, the sense of smell returns to normal on its own, without any treatment. Your doctor may suggest oral steroid medications such as prednisone, which is usually used for a short period of time, or topical steroid sprays, which can be used for longer periods of time. Antibiotics are also used to treat nasal infections. The effectiveness of both steroids and antibiotics depends greatly on the severity and duration of the nasal swelling or infection. Often relief is temporary.
Some cases of Parkes Weber syndrome result from mutations in the RASA1 gene. When the condition is caused by RASA1 gene mutations, affected individuals usually have multiple capillary malformations. People with Parkes Weber syndrome who do not have multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. The RASA1 gene provides instructions for making a protein known as p120-RasGAP, which is involved in transmitting chemical signals from outside the cell to the nucleus. These signals help control several important cell functions, including the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), and cell movement. The role of the p120-RasGAP protein is not fully understood, although it appears to be essential for the normal development of the vascular system. Mutations in the RASA1 gene lead to the production of a nonfunctional version of the p120-RasGAP protein. A loss of this protein's activity disrupts tightly regulated chemical signaling during development. However, it is unclear how these changes lead to the specific vascular abnormalities and limb overgrowth seen in people with Parkes Weber syndrome.
How is Juvenile Huntington disease (HD) inherited? Juvenile HD is inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. As the altered HTT gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms (anticipation). A larger number of repeats is usually associated with an earlier onset of signs and symptoms. Most often, children with juvenile HD inherit the expanded CAG trinucleotide repeat from their fathers, although on occasion they inherit it from their mothers.
How is antisynthetase syndrome diagnosed? A diagnosis of antisynthetase syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to confirm the diagnosis, determine the severity of the condition, and inform treatment. This testing varies based on the signs and symptoms present in each person, but may include: Blood tests to evaluate levels of muscle enzymes such as creatine kinase and aldolase Laboratory tests to look for the presence of autoantibodies associated with antisynthetase syndrome High resolution computed tomography (HRCT) of the lungs Electromyography (EMG) Muscle biopsy Pulmonary function testing Magnetic resonance imaging (MRI) of affected muscles Evaluation of swallowing difficulties and aspiration risk Lung biopsy
These resources address the diagnosis or management of hereditary neuropathy with liability to pressure palsies: - Gene Review: Gene Review: Hereditary Neuropathy with Liability to Pressure Palsies - Genetic Testing Registry: Hereditary liability to pressure palsies - MedlinePlus Encyclopedia: carpal tunnel syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Mutations in the XK gene cause McLeod neuroacanthocytosis syndrome. The XK gene provides instructions for producing the XK protein, which carries the blood antigen Kx. Blood antigens are found on the surface of red blood cells and determine blood type. The XK protein is found in various tissues, particularly the brain, muscle, and heart. The function of the XK protein is unclear; researchers believe that it might play a role in transporting substances into and out of cells. On red blood cells, the XK protein attaches to another blood group protein, the Kell protein. The function of this blood group complex is unknown. XK gene mutations typically lead to the production of an abnormally short, nonfunctional protein or cause no protein to be produced at all. A lack of XK protein leads to an absence of Kx antigens on red blood cells; the Kell antigen is also less prevalent. The absence of Kx antigen and reduction of Kell antigen is known as the "McLeod phenotype," and refers only to the red blood cells. It is not known how the lack of XK protein leads to the movement problems and other features of McLeod neuroacanthocytosis syndrome.
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.
MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy). Affected males have a small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. Infants with this condition appear normal at birth but then develop severe encephalopathy within the first week of life. These babies experience poor feeding, leading to a failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MECP2-related severe neonatal encephalopathy have severe to profound intellectual disability. Affected males have breathing problems, with some having episodes in which breathing slows or stops for short periods (apnea). As the child ages, the apnea episodes tend to last longer, especially during sleep, and affected babies often require use of a machine to help regulate their breathing (mechanical ventilation). Most males with MECP2-related severe neonatal encephalopathy do not live past the age of 2 because of respiratory failure. MECP2-related severe neonatal encephalopathy is the most severe condition in a spectrum of disorders with the same genetic cause. The mildest is PPM-X syndrome, followed by MECP2 duplication syndrome, then Rett syndrome (which exclusively affects females), and finally MECP2-related severe neonatal encephalopathy.
What are the signs and symptoms of Spondylospinal thoracic dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylospinal thoracic dysostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypoplasia of the maxilla - Multiple pterygia - Pulmonary hypoplasia - Short thorax - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
How might bronchiolitis obliterans be treated? While there is no cure for this condition, treatment with corticosteroids can help to stabilize or slow its progression. Immunosuppressive therapies and lung transplants might also be used. Treatment is most effective during the early stages of the disease. If left untreated, bronchiolitis obliterans can be fatal.
What are the signs and symptoms of Onychodystrophy-anonychia? The Human Phenotype Ontology provides the following list of signs and symptoms for Onychodystrophy-anonychia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Tapered distal phalanges of finger 5% Anonychia - Autosomal dominant inheritance - Congenital hip dislocation - Nail dysplasia - Nail dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Mucolipidosis II alpha/beta is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide.
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. Researchers believe that these mutations cause the FGFR3 protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen in this condition.
- Indigestion, also known as dyspepsia, is a term used to describe one or more symptoms including a feeling of fullness during a meal, uncomfortable fullness after a meal, and burning or pain in the upper abdomen. - Indigestion can be caused by a condition in the digestive tract such as gastroesophageal reflux disease (GERD), peptic ulcer disease, cancer, or abnormality of the pancreas or bile ducts. - Sometimes a person has indigestion for which a cause cannot be found. This type of indigestion is called functional dyspepsia. - Indigestion and heartburn are different conditions, but a person can have symptoms of both. - The doctor may order x rays; blood, breath, and stool tests; and an upper endoscopy with biopsies to diagnose indigestion. - Some people may experience relief from indigestion by making some lifestyle changes and decreasing stress. - The doctor may prescribe antacids, H2 receptor antagonists (H2RAs), proton pump inhibitors (PPIs), prokinetics, or antibiotics to treat the symptoms of indigestion.
People with RAS are at increased risk for complications resulting from loss of kidney function or atherosclerosis occurring in other blood vessels, such as - chronic kidney disease (CKD)reduced kidney function over a period of time - coronary artery diseasenarrowing and hardening of arteries that supply blood to the heart - strokebrain damage caused by lack of blood flow to the brain - peripheral vascular diseaseblockage of blood vessels that restricts flow of blood from the heart to other parts of the body, particularly the legs RAS can lead to kidney failure, described as end-stage renal disease when treated with blood-filtering treatments called dialysis or a kidney transplant, though this is uncommon in people who receive ongoing treatment for RAS.
These resources address the diagnosis or management of adermatoglyphia: - Genetic Testing Registry: Adermatoglyphia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The prevalence of prekallikrein deficiency is unknown. Approximately 80 affected individuals in about 30 families have been described in the medical literature. Because prekallikrein deficiency usually does not cause any symptoms, researchers suspect that most people with the condition are never diagnosed.
Episodes eventually decrease in frequency and intensity over the course of eight to 12 years.
White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). Affected individuals usually develop multiple nevi. Rarely, white sponge nevi also occur on the mucosae (singular: mucosa) of the nose, esophagus, genitals, or anus. The nevi are caused by a noncancerous (benign) overgrowth of cells. White sponge nevus can be present from birth but usually first appears during early childhood. The size and location of the nevi can change over time. In the oral mucosa, both sides of the mouth are usually affected. The nevi are generally painless, but the folds of extra tissue can promote bacterial growth, which can lead to infection that may cause discomfort. The altered texture and appearance of the affected tissue, especially the oral mucosa, can be bothersome for some affected individuals.
These resources address the diagnosis or management of branchiootorenal/branchiootic syndrome: - Gene Review: Gene Review: Branchiootorenal Spectrum Disorders - Genetic Testing Registry: Branchiootic syndrome - Genetic Testing Registry: Branchiootic syndrome 2 - Genetic Testing Registry: Branchiootic syndrome 3 - Genetic Testing Registry: Branchiootorenal syndrome 2 - Genetic Testing Registry: Melnick-Fraser syndrome - MedlinePlus Encyclopedia: Branchial Cleft Cyst - MedlinePlus Encyclopedia: End-Stage Kidney Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Summary : Your child's health includes physical, mental and social well-being. Most parents know the basics of keeping children healthy, like offering them healthy foods, making sure they get enough sleep and exercise and insuring their safety. It is also important for children to get regular checkups with their health care provider. These visits are a chance to check your child's development. They are also a good time to catch or prevent problems. Other than checkups, school-age children should be seen for - Significant weight gain or loss - Sleep problems or change in behavior - Fever higher than 102 - Rashes or skin infections - Frequent sore throats - Breathing problems
These resources address the diagnosis or management of complement factor I deficiency: - MedlinePlus Encyclopedia: Complement These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Never eat raw freshwater crabs or crayfish. Cook crabs and crayfish for to at least 145°F (~63°C). Travelers should be advised to avoid traditional meals containing undercooked freshwater crustaceans. More on: Fight BAC: Safe Food Handling
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.
Cap myopathy is a disorder that primarily affects skeletal muscles, the muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time. The name cap myopathy comes from characteristic abnormal cap-like structures that can be seen in muscle cells when muscle tissue is viewed under a microscope. The severity of cap myopathy is related to the percentage of muscle cells that have these caps. Individuals in whom 70 to 75 percent of muscle cells have caps typically have severe breathing problems and may not survive childhood, while those in whom 10 to 30 percent of muscle cells have caps have milder symptoms and can live into adulthood. Cap myopathy can be caused by mutations in the in the ACTA1, TPM2, or TPM3 genes. This condition follows an autosomal dominant manner of inheritance, however, most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family.
Your digestive or gastrointestinal (GI) tract includes the esophagus, stomach, small intestine, large intestine or colon, rectum, and anus. Bleeding can come from any of these areas. The amount of bleeding can be so small that only a lab test can find it. Signs of bleeding in the digestive tract depend where it is and how much bleeding there is. Signs of bleeding in the upper digestive tract include - Bright red blood in vomit - Vomit that looks like coffee grounds - Black or tarry stool - Dark blood mixed with stool Signs of bleeding in the lower digestive tract include - Black or tarry stool - Dark blood mixed with stool - Stool mixed or coated with bright red blood GI bleeding is not a disease, but a symptom of a disease. There are many possible causes of GI bleeding, including hemorrhoids, peptic ulcers, tears or inflammation in the esophagus, diverticulosis and diverticulitis, ulcerative colitis and Crohn's disease, colonic polyps, or cancer in the colon, stomach or esophagus. The test used most often to look for the cause of GI bleeding is called endoscopy. It uses a flexible instrument inserted through the mouth or rectum to view the inside of the GI tract. A type of endoscopy called colonoscopy looks at the large intestine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
How is renal oncocytoma diagnosed? A diagnosis of renal oncocytoma is often suspected based on imaging studies such as computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). However, it can be difficult to differentiate a renal oncocytoma from renal cell carcinoma based on imaging studies alone. Although researchers are currently studying several new techniques for the diagnosis of renal oncocytoma, a biopsy and surgery are typically necessary to confirm the diagnosis. Is genetic testing available for renal oncocytoma? Genetic testing is not available for many people with renal oncocytoma since most of these tumors occur sporadically (by chance) and are not caused by a genetic mutation. However, genetic testing is an option for people with an inherited condition that predisposes to renal oncocytoma such as tuberous sclerosis complex and Birt-Hogg-Dube syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It provides a list of laboratories performing genetic testing for tuberous sclerosis complex and Birt-Hogg-Dube syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Currently there is no cure for these disease syndromes.Medical care is directed at treating systemic conditions and improving the person's quality of life. Physical therapy and daily exercise may delay joint problems and improve the ability to move.Surgery to remove tonsils and adenoids may improve breathing among affected individuals with obstructive airway disorders and sleep apnea. Surgery can also correct hernias, help drain excessive cerebrospinal fluid from the brain, and free nerves and nerve roots compressed by skeletal and other abnormalities. Corneal transplants may improve vision among individuals with significant corneal clouding.Enzyme replacement therapies are currently in use for several MPS disorders and are beig tested in the other MPS disorders. Enzyme replacement therapy has proven useful in reducing non-neurological symptoms and pain.
Key Points - There is no standard staging system for chronic myeloproliferative neoplasms. There is no standard staging system for chronic myeloproliferative neoplasms. Staging is the process used to find out how far the cancer has spread. There is no standard staging system for chronic myeloproliferative neoplasms. Treatment is based on the type of myeloproliferative neoplasm the patient has. It is important to know the type in order to plan treatment.
Your ankle bone and the ends of your two lower leg bones make up the ankle joint. Your ligaments, which connect bones to one another, stabilize and support it. Your muscles and tendons move it. The most common ankle problems are sprains and fractures. A sprain is an injury to the ligaments. It may take a few weeks to many months to heal completely. A fracture is a break in a bone. You can also injure other parts of the ankle such as tendons, which join muscles to bone, and cartilage, which cushions your joints. Ankle sprains and fractures are common sports injuries.
Your backbone, or spine, is made up of 26 bone discs called vertebrae. The vertebrae protect your spinal cord and allow you to stand and bend. A number of problems can change the structure of the spine or damage the vertebrae and surrounding tissue. They include - Infections - Injuries - Tumors - Conditions, such as ankylosing spondylitis and scoliosis - Bone changes that come with age, such as spinal stenosis and herniated disks Spinal diseases often cause pain when bone changes put pressure on the spinal cord or nerves. They can also limit movement. Treatments differ by disease, but sometimes they include back braces and surgery.
Mutations in the FOXL2 gene cause BPES types I and II. The FOXL2 gene provides instructions for making a protein that is active in the eyelids and ovaries. The FOXL2 protein is likely involved in the development of muscles in the eyelids. Before birth and in adulthood, the protein regulates the growth and development of certain ovarian cells and the breakdown of specific molecules. It is difficult to predict the type of BPES that will result from the many FOXL2 gene mutations. However, mutations that result in a partial loss of FOXL2 protein function generally cause BPES type II. These mutations probably impair regulation of normal development of muscles in the eyelids, resulting in malformed eyelids that cannot open fully. Mutations that lead to a complete loss of FOXL2 protein function often cause BPES type I. These mutations impair the regulation of eyelid development as well as various activities in the ovaries, resulting in eyelid malformation and abnormally accelerated maturation of certain ovarian cells and the premature death of egg cells.
Signs of rectal cancer include a change in bowel habits or blood in the stool. These and other signs and symptoms may be caused by rectal cancer or by other conditions. Check with your doctor if you have any of the following: - Blood (either bright red or very dark) in the stool. - A change in bowel habits. - Diarrhea. - Constipation. - Feeling that the bowel does not empty completely. - Stools that are narrower or have a different shape than usual. - General abdominal discomfort (frequent gas pains, bloating, fullness, or cramps). - Change in appetite. - Weight loss for no known reason. - Feeling very tired.
If you suffer from migraine headaches, you're not alone. About 12 percent of the U.S. population gets them. Migraines are recurring attacks of moderate to severe pain. The pain is throbbing or pulsing, and is often on one side of the head. During migraines, people are very sensitive to light and sound. They may also become nauseated and vomit. Migraine is three times more common in women than in men. Some people can tell when they are about to have a migraine because they see flashing lights or zigzag lines or they temporarily lose their vision. Many things can trigger a migraine. These include - Anxiety - Stress - Lack of food or sleep - Exposure to light - Hormonal changes (in women) Doctors used to believe migraines were linked to the opening and narrowing of blood vessels in the head. Now they believe the cause is related to genes that control the activity of some brain cells. Medicines can help prevent migraine attacks or help relieve symptoms of attacks when they happen. For many people, treatments to relieve stress can also help. NIH: National Institute of Neurological Disorders and Stroke
Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system. With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat. The condition is also known as "incomplete lissencephaly." Pachygyria may occur alone (isolated) or as part of various underlying syndromes. Symptoms vary among affected people and may include moderate to severe developmental delay, seizures, poor muscle tone and control, feeding or swallowing difficulties, and small head size (microcephaly). In most cases it is not inherited, but various inheritance patterns have been reported. Treatment is symptomatic and supportive.
How is Larson syndrome inherited? Larson syndrome is inherited in an autosomal dominant manner. A condition is autosomal dominant when having one copy of the changed (mutated) gene in each cell is enough to cause signs or symptoms of the condition. In some cases, an affected person inherits the mutation from one affected parent; in other cases, a new mutation occurs for the first time in the affected person. While some authors have suggested autosomal recessive inheritance in families with affected siblings and unaffected parents, it was found that some of these children were affected due to germline mosaicism. This means that multiple siblings in a family inherited a disease-causing mutation from an unaffected parent who had the mutation in some or all of their egg or sperm cells only (not other body cells). This can cause a condition to appear autosomal recessive. Also, some other conditions with autosomal recessive inheritance and symptoms that overlap with Larsen syndrome have been diagnosed as Larsen syndrome, but are now mostly considered different conditions. These conditions are usually more severe and due to mutations in different genes.
These resources address the diagnosis or management of familial hypobetalipoproteinemia: - Genetic Testing Registry: Familial hypobetalipoproteinemia - Genetic Testing Registry: Hypobetalipoproteinemia, familial, 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Mutations in the SYNE1 gene cause ARCA1. The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. Within the brain, the Syne-1 protein appears to play a role in the maintenance of the cerebellum, which is the part of the brain that coordinates movement. The Syne-1 protein is active (expressed) in Purkinje cells, which are located in the cerebellum and are involved in chemical signaling between nerve cells (neurons). SYNE1 gene mutations that cause ARCA1 result in an abnormally short, dysfunctional version of the Syne-1 protein. The defective protein is thought to impair Purkinje cell function and disrupt signaling between neurons in the cerebellum. The loss of brain cells in the cerebellum causes the movement problems characteristic of ARCA1, but it is unclear how this cell loss is related to impaired Purkinje cell function.
How might fetal and neonatal alloimmune thrombocytopenia (NAIT) be treated? NAIT is often unexpected and is usually diagnosed after birth. Once suspected, the diagnosis is confirmed by demonstration of maternal anti-platelet antibodies directed against a paternal antigen inherited by the baby. Management in the newborn period involves transfusion of platelets that do not contain the specific antigens. Prompt diagnosis and treatment are essential to reduce the chances of death and disability due to severe bleeding.
These resources address the diagnosis or management of periventricular heterotopia: - Gene Review: Gene Review: FLNA-Related Periventricular Nodular Heterotopia - Genetic Testing Registry: Heterotopia, periventricular, associated with chromosome 5p anomalies - Genetic Testing Registry: Heterotopia, periventricular, autosomal recessive - Genetic Testing Registry: X-linked periventricular heterotopia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Familial atrial fibrillation appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Before birth, a childs nerve cells normally grow along the intestines in the direction of the anus. With HD, the nerve cells stop growing too soon. Why the nerve cells stop growing is unclear. Some HD is inherited, meaning it is passed from parent to child through genes. HD is not caused by anything a mother did while pregnant.
Rheumatoid arthritis (RA) is a form of arthritis that causes pain, swelling, stiffness and loss of function in your joints. It can affect any joint but is common in the wrist and fingers. More women than men get rheumatoid arthritis. It often starts in middle age and is most common in older people. You might have the disease for only a short time, or symptoms might come and go. The severe form can last a lifetime. Rheumatoid arthritis is different from osteoarthritis, the common arthritis that often comes with older age. RA can affect body parts besides joints, such as your eyes, mouth and lungs. RA is an autoimmune disease, which means the arthritis results from your immune system attacking your body's own tissues. No one knows what causes rheumatoid arthritis. Genes, environment, and hormones might contribute. Treatments include medicine, lifestyle changes, and surgery. These can slow or stop joint damage and reduce pain and swelling. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
When a defect in the urinary tract blocks the flow of urine, the urine backs up and causes the ureters to swell, called hydroureter, and hydronephrosis. Hydronephrosis is the most common problem found during prenatal ultrasound of a baby in the womb. The swelling may be easy to see or barely detectable. The results of hydronephrosis may be mild or severe, yet the long-term outcome for the childs health cannot always be predicted by the severity of swelling. Urine blockage may damage the developing kidneys and reduce their ability to filter. In the most severe cases of urine blockage, where little or no urine leaves the babys bladder, the amount of amniotic fluid is reduced to the point that the babys lung development is threatened. After birth, urine blockage may raise a childs risk of developing a UTI. Recurring UTIs can lead to more permanent kidney damage.
These resources address the diagnosis or management of lacrimo-auriculo-dento-digital syndrome: - American Academy of Ophthalmology: The Tearing Patient - Cincinnati Children's Hospital: Tear Duct Probing and Irrigation - Cleveland Clinic: Dry Eyes - Cleveland Clinic: Dry Mouth Treatment - Genetic Testing Registry: Levy-Hollister syndrome - Monroe Carell Jr. Children's Hospital at Vanderbilt: Blocked Tear Duct (Dacryostenosis) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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.
Stargardt macular degeneration is the most common form of juvenile macular degeneration, the signs and symptoms of which begin in childhood. The estimated prevalence of Stargardt macular degeneration is 1 in 8,000 to 10,000 individuals.
Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCL is unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
What causes neutral lipid storage disease with myopathy? Neutral lipid storage disease with myopathy is caused by mutations in the PNPLA2 gene. This gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. Triglycerides are an important source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy. PNPLA2 gene mutations impair the ATGL enzyme's ability to break down triglycerides, allowing them to accumulate in muscle and tissues throughout the body. This results in the signs and symptoms seen in people with neutral lipid storage disease with myopathy.
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. More than 90 percent of cases of CCHS result from new mutations in the PHOX2B gene. These cases occur in people with no history of the disorder in their family. Occasionally an affected person inherits the mutation from one affected parent. The number of such cases has been increasing as better treatment has allowed more affected individuals to live into adulthood. About 5 to 10 percent of affected individuals inherit the mutation from a seemingly unaffected parent with somatic mosaicism. Somatic mosaicism means that some of the body's cells have a PHOX2B gene mutation, and others do not. A parent with mosaicism for a PHOX2B gene mutation may not show any signs or symptoms of CCHS.
L1 syndrome is an inherited disorder that primarily affects the nervous system. L1 syndrome involves a variety of features that were once thought to be distinct disorders, but are now considered to be part of the same syndrome. The most common characteristics of L1 syndrome are muscle stiffness (spasticity) of the lower limbs, intellectual disability, increased fluid in the center of the brain (hydrocephalus), and thumbs bent toward the palm (adducted thumbs). People with L1 syndrome can also have difficulty speaking (aphasia), seizures, and underdeveloped or absent tissue connecting the left and right halves of the brain (agenesis of the corpus callosum). The symptoms of L1 syndrome vary widely among affected individuals, even among members of the same family. Because this disorder involves spasticity of the lower limbs, L1 syndrome is sometimes referred to as spastic paraplegia type 1 (SPG1).
What are the signs and symptoms of Myelodysplastic syndromes? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelodysplastic syndromes. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Myelodysplasia - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
How might leukoplakia be treated? For most people, removing the source of irritation is important and often causes the lesion to disappear. For example, if tobacco use is thought to be the cause, stopping tobacco use usually clears the condition. Dental causes such as rough teeth or fillings should be treated as soon as possible. When this is not effective or if the lesions show early signs of cancer, treatment may include removing the patches. The lesion is usually removed in the health care provider's office using local anesthesia. Leukoplakia on the vulva is treated in the same way as oral lesions. Recurrences are common, so follow-up visits with a physician are recommended.
Most children recover completely from SD, although a small number will continue to have disabling, persistent chorea despite treatment. The duration of symptoms varies, generally from 3 to 6 weeks, but some children will have symptoms for several months. Cardiac complications may occur in a small minority of children, usually in the form of endocarditis. In a third of the children with the disease, SD will recur, typically 1 to 2 years after the initial attack. Researchers have noted an association between recurrent SD and the later development of the abrupt onset forms of obsessive-compulsive disorder, attention deficit/hyperactivity disorder, tic disorders, and autism, which they call PANDAS, for Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus infection. Further studies are needed to determine the nature of the association and the biological pathways that connect streptococcal infection, autoimmune response, and the later development of these specific behavioral disorders.
Crystal arthropathies are a diverse group of bone diseases associated with the deposition of minerals within joints and the soft tissues around the joints. The group includes gout, basic calcium phosphate and calcium pyrophosphate dihydrate deposition diseases, and, in very rare cases, calcium oxalate crystal arthropathy which is a rare cause of arthritis characterized by deposition of calcium oxalate crystals within synovial fluid and typically occurs in patients with underlying primary or secondary hyperoxaluria. These crystals are responsible for different rheumatic syndromes, including acute or chronic synovial inflammation and cartilage degeneration. Treatment depends on the specific condition.
A child with a UTI may not have any symptoms. When symptoms are present, they can range from mild to severe. UTI symptoms can include - fever - pain or burning during urination with only a few drops of urine at a time - irritability - not eating - nausea - diarrhea - vomiting - cloudy, dark, bloody, or foul-smelling urine - urinating often - pain in the back or side below the ribs - leaking urine into clothes or bedding in older children
Mutations in the FGFR2 gene cause Apert syndrome. This gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which can promote the premature fusion of bones in the skull, hands, and feet.
Primary myelofibrosis is a rare condition that affects approximately 1 in 500,000 people worldwide.
These resources address the diagnosis or management of triple X syndrome: - Association for X and Y Chromosome Variations (AXYS): Trisomy X Syndrome - Genetic Testing Registry: Trisomy X syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Summary : Antidepressants are medicines that treat depression. Your doctor can prescribe them for you. They work to balance some of the natural chemicals in our brains. It may take several weeks for them to help. There are several types of antidepressants. You and your doctor may have to try a few before finding what works best for you. Antidepressants may cause mild side effects that usually do not last long. These may include headache, nausea, sleep problems, restlessness, and sexual problems. Tell your doctor if you have any side effects. You should also let your doctor know if you take any other medicines, vitamins, or herbal supplements. It is important to keep taking your medicines, even if you feel better. Do not stop taking your medicines without talking to your doctor. You often need to stop antidepressants gradually. NIH: National Institute of Mental Health
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
These resources address the diagnosis or management of familial pityriasis rubra pilaris: - Genetic Testing Registry: Pityriasis rubra pilaris These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What are the 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 cause discomfort, numbness, tingling (paresthesia), burning, or itching.
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 some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. The linear form of Darier disease is generally not inherited but arises from mutations in the body's cells that occur after conception. These alterations are called somatic mutations.
6q24-related transient neonatal diabetes mellitus is a type of diabetes that occurs in infants. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. People with 6q24-related transient neonatal diabetes mellitus experience very slow growth before birth (severe intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration), usually beginning in the first week of life. Signs and symptoms of this form of diabetes are transient, which means that they gradually lessen over time and generally disappear between the ages of 3 months and 18 months. Diabetes may recur, however, especially during childhood illnesses or pregnancy. Up to half of individuals with 6q24-related transient neonatal diabetes mellitus develop permanent diabetes mellitus later in life. Other features of 6q24-related transient neonatal diabetes mellitus that occur in some affected individuals include an unusually large tongue (macroglossia); a soft out-pouching around the belly-button (an umbilical hernia); malformations of the brain, heart, or kidneys; weak muscle tone (hypotonia); deafness; and developmental delay.
18q deletion syndrome occurs in an estimated 1 in 40,000 newborns. This condition is found in people of all ethnic backgrounds.
Carcinoid tumors are rare, slow-growing cancers. They usually start in the lining of the digestive tract or in the lungs. They grow slowly and don't produce symptoms in the early stages. As a result, the average age of people diagnosed with digestive or lung carcinoids is about 60. In later stages the tumors sometimes produce hormones that can cause carcinoid syndrome. The syndrome causes flushing of the face and upper chest, diarrhea, and trouble breathing. Surgery is the main treatment for carcinoid tumors. If they haven't spread to other parts of the body, surgery can cure the cancer.
These resources address the diagnosis or management of pulmonary arterial hypertension: - Gene Review: Gene Review: Heritable Pulmonary Arterial Hypertension - Genetic Testing Registry: Primary pulmonary hypertension - Genetic Testing Registry: Primary pulmonary hypertension 2 - Genetic Testing Registry: Primary pulmonary hypertension 3 - Genetic Testing Registry: Primary pulmonary hypertension 4 - MedlinePlus Encyclopedia: Pulmonary hypertension These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Permanent neonatal diabetes mellitus can have different inheritance patterns. When this condition is caused by mutations in the KCNJ11 or INS gene it 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 about 90 percent of these cases, the condition results from new mutations in the gene and occurs in people with no history of the disorder in their family. In the remaining cases, an affected person inherits the mutation from one affected parent. When permanent neonatal diabetes mellitus is caused by mutations in the ABCC8 gene, it may be inherited in either an autosomal dominant or autosomal recessive pattern. In autosomal recessive inheritance, 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. Less commonly the condition is caused by mutations in other genes, and in these cases it is also inherited in an autosomal recessive pattern.
Currently there is no cure for FMD. Medicines and angioplasty can reduce the risk of initial or recurrent stroke. In rare cases, FMD-related aneurysms can burst and bleed into the brain, causing stroke, permanent nerve damage, or death.
Some brain cells die because they stop getting the oxygen and nutrients they need to function. Other brain cells die because they are damaged by sudden bleeding into or around the brain. The brain cells that don't die immediately remain at risk for death. These cells can linger in a compromised or weakened state for several hours. With timely treatment these cells can be saved. Knowing stroke symptoms, calling 911 immediately, and getting to a hospital as quickly as possible are critical.
Methemoglobinemia, beta-globin type is caused by mutations in the HBB gene. This gene provides instructions for making a protein called beta-globin. Beta-globin is one of four components (subunits) that make up hemoglobin. In adults, hemoglobin normally contains two subunits of beta-globin and two subunits of another protein called alpha-globin. Each of these protein subunits is bound to an iron-containing molecule called heme; each heme contains an iron molecule in its center that can bind to one oxygen molecule. For hemoglobin to bind to oxygen, the iron within the heme molecule needs to be in a form called ferrous iron (Fe2+). The iron within the heme can change to another form of iron called ferric iron (Fe3+), which cannot bind oxygen. Hemoglobin that contains ferric iron is known as methemoglobin. HBB gene mutations that cause methemoglobinemia, beta-globin type change the structure of beta-globin and promote the heme iron to change from ferrous to ferric. The ferric iron cannot bind oxygen and causes cyanosis and the brown appearance of blood.
Aromatase excess syndrome is a condition characterized by elevated levels of the female sex hormone estrogen in both males and females. Males with aromatase excess syndrome experience breast enlargement (gynecomastia) in late childhood or adolescence. The bones of affected males grow and develop more quickly and stop growing sooner than usual (advanced bone age). As a result males have an early growth spurt, typically during late childhood, with short stature as an adult. Affected females rarely show signs and symptoms of the condition, but they may have increased breast growth (macromastia), irregular menstrual periods, and short stature. The ability to have children (fertility) is usually normal in both males and females with aromatase excess syndrome.
No specific treatment exists for the gangliosidoses. Anticonvulsants may initially control seizures. Other supportive treatment includes proper nutrition and hydration and keeping the airway open.
MCHS is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Pol "reads" sequences of mtDNA and uses them as templates to produce new copies of mtDNA in a process called DNA replication. Most POLG gene mutations change single protein building blocks (amino acids) in the alpha subunit of pol . These changes result in a mutated pol that has a reduced ability to replicate DNA. Although the mechanism is unknown, mutations in the POLG gene often result in fewer copies of mtDNA (mtDNA depletion), particularly in muscle, brain, or liver cells. MtDNA depletion causes a decrease in cellular energy, which could account for the signs and symptoms of MCHS.
Porencephaly is an extremely rare disorder of the central nervous system in which a cyst or cavity filled with cerebrospinal fluid develops in the brain. It is usually the result of damage from stroke or infection after birth (the more common type), but it can also be caused by abnormal development before birth (which is inherited and less common). Diagnosis is usually made before an infant reaches his or her first birthday. Symptoms of porencephaly include delayed growth and development, spastic hemiplegia (slight or incomplete paralysis), hypotonia (low muscle tone), seizures (often infantile spasms), and macrocephaly (large head) or microcephaly (small head). Children with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus (accumulation of fluid in the brain), spastic contractures (shrinkage or shortening of the muscles), and cognitive impairment.