Split (1)

train · 11.8k rows

data stringlengths 25 1.5k
The most common form of the condition, called methylmalonic acidemia with homocystinuria, cblC type, is estimated to affect 1 in 200,000 newborns worldwide. Studies indicate that this form of the condition may be even more common in particular populations. These studies estimate the condition occurs in 1 in 100,000 people in New York and 1 in 60,000 people in California. Other types of methylmalonic acidemia with homocystinuria are much less common. Fewer than 20 cases of each of the other types have been reported in the medical literature.
Factor V Leiden thrombophilia is an inherited disorder that results in an increased risk of developing abnormal blood clots. Factor V Leiden is the name of a specific gene mutation in the F5 gene. This gene plays a critical role in the normal formation of blood clots in response to an injury. People can inherit one or two copies of the factor V Leiden gene mutation. Those who inherit one copy are called heterozygotes. People who inherit two copies of the mutation, one from each parent, are called homozygotes. Having the factor V Leiden mutation increases your risk for developing a clot in your legs called a deep venous thrombosis (DVT). It also increases your risk of developing a clot that travels through the bloodstream and lodges in the lungs, called a pulmonary embolism (PE).
Aniridia is caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in the early development of the eyes, brain and spinal cord (central nervous system), and the pancreas. Within the brain, the PAX6 protein is involved in the development of a specialized group of brain cells that process smell (the olfactory bulb). The PAX6 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the PAX6 protein is called a transcription factor. Following birth, the PAX6 protein regulates several genes that likely contribute to the maintenance of different eye structures. Mutations in the PAX6 gene result in the production of a nonfunctional PAX6 protein that is unable to bind to DNA and regulate the activity of other genes. A lack of functional PAX6 protein disrupts the formation of the eyes during embryonic development.
How is syndactyly type 3 inherited? Syndactyly type 3 has been shown to be inherited in an autosomal dominant manner. This means that having only one mutated copy of the causative gene is sufficient to cause the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance of inheriting the mutated gene and a 50% chance of inheriting the normal gene and being unaffected.
How is long QT syndrome diagnosed? Long QT syndrome is diagnosed on the basis of electrocardiographic (EKG) findings, clinical findings such as congenital deafness or unexplained fainting, and family history of long QT syndrome or sudden cardiac death. Genetic testing is often performed in families in whom the diagnosis of long QT syndrome has been made or is suspected on clinical grounds.
These resources address the diagnosis or management of benign recurrent intrahepatic cholestasis: - Gene Review: Gene Review: ATP8B1 Deficiency - Genetic Testing Registry: Benign recurrent intrahepatic cholestasis 1 - Genetic Testing Registry: Benign recurrent intrahepatic cholestasis 2 - Merck Manual Home Health Edition: Cholestasis 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 CDC73 gene (also known as the HRPT2 gene) cause hyperparathyroidism-jaw tumor syndrome. The CDC73 gene provides instructions for making a protein called parafibromin. This protein is found throughout the body and is likely involved in gene transcription, which is the first step in protein production. Parafibromin is also thought to play a role in cell growth and division (proliferation), either promoting or inhibiting cell proliferation depending on signals within the cell. CDC73 gene mutations cause hyperparathyroidism-jaw tumor syndrome by reducing the amount of functional parafibromin that is produced. Most of these mutations result in a parafibromin protein that is abnormally short and nonfunctional. Without functional parafibromin, cell proliferation is not properly regulated. Uncontrolled cell division can lead to the formation of tumors. It is unknown why only certain tissues seem to be affected by changes in parafibromin. Some people with hyperparathyroidism-jaw tumor syndrome do not have identified mutations in the CDC73 gene. The cause of the condition in these individuals is unknown.
The symptoms of IBS include abdominal pain or discomfort and changes in bowel habits. To meet the definition of IBS, the pain or discomfort should be associated with two of the following three symptoms: - start with bowel movements that occur more or less often than usual - start with stool that appears looser and more watery or harder and more lumpy than usual - improve with a bowel movement Other symptoms of IBS may include - diarrheahaving loose, watery stools three or more times a day and feeling urgency to have a bowel movement - constipationhaving hard, dry stools; two or fewer bowel movements in a week; or straining to have a bowel movement - feeling that a bowel movement is incomplete - passing mucus, a clear liquid made by the intestines that coats and protects tissues in the GI tract - abdominal bloating Symptoms may often occur after eating a meal. To meet the definition of IBS, symptoms must occur at least once per week for at least 2 months.
Menstruation, or period, is a woman's monthly bleeding. Abnormal vaginal bleeding is different from normal menstrual periods. It could be bleeding that is between periods, lasts several weeks, or happens before puberty or after menopause. Causes can include - Uterine fibroids or polyps - Hormone problems - Hormone pills, such as birth control pills and menopausal hormone therapy - Cancer of the cervix, ovaries, uterus or vagina - Thyroid problems Bleeding during pregnancy can have several different causes. It is not always a serious problem, but to be safe you should always contact your healthcare provider. Pelvic exams, blood tests and other procedures can help your healthcare provider diagnose the problem. Treatment depends on the cause.
Having certain inherited disorders can increase the risk of developing parathyroid cancer. Anything that increases the chance of getting a disease is called a risk factor. Risk factors for parathyroid cancer include the following rare disorders that are inherited (passed down from parent to child): - Familial isolated hyperparathyroidism (FIHP). - Multiple endocrine neoplasia type 1 (MEN1) syndrome. Treatment with radiation therapy may increase the risk of developing a parathyroid adenoma.
This condition is detected in an estimated 1 in 36,000 newborns worldwide.
What are the signs and symptoms of Crigler Najjar syndrome, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Crigler Najjar syndrome, 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 the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the liver 90% Autosomal recessive inheritance - Jaundice - Unconjugated hyperbilirubinemia - 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.
Your adrenal, or suprarenal, glands are located on the top of each kidney. These glands produce hormones that you can't live without, including sex hormones and cortisol, which helps you respond to stress and has many other functions. A number of disorders can affect the adrenal glands, including tumors. Tumors can be either benign or malignant. Benign tumors aren't cancer. Malignant ones are. Most adrenal gland tumors are benign. They usually do not cause symptoms and may not require treatment. Malignant adrenal gland cancers are uncommon. Types of tumors include - Adrenocortical carcinoma - cancer in the outer part of the gland - Neuroblastoma, a type of childhood cancer - Pheochromocytoma - a rare tumor that is usually benign Symptoms depend on the type of cancer you have. Treatments may include surgery, chemotherapy, or radiation therapy.
What are the signs and symptoms of achalasia? Most people with achalasia experience difficulty swallowing, also known as dysphagia and heartburn. Other symptoms might include: regurgitation or vomiting, noncardiac chest pain, odynophagia (painful swallowing), and pain in the upper central region of the abdomen. Non esophageal symptoms might include: coughing or asthma, chronic aspiration (breathing a foreign object such as food into the airway), hoarseness or sore throat, and unintentional weight loss.
Paroxysmal hemicrania is a rare form of headache that usually begins in adulthood. Patients experience severe throbbing, claw-like, or boring pain usually on one side of the face; in, around, or behind the eye; and occasionally reaching to the back of the neck. This pain may be accompanied by red and tearing eyes, a drooping or swollen eyelid on the affected side of the face, and nasal congestion. Patients may also feel dull pain, soreness, or tenderness between attacks. Attacks of paroxysmal hemicrania typically occur from 5 to 40 times per day and last 2 to 30 minutes. The disorder has two forms: chronic, in which patients experience attacks on a daily basis for a year or more, and episodic, in which the headaches may remit for months or years. Certain movements of the head or neck or external pressure to the neck may trigger these headaches in some patients. The disorder is more common in women than in men.
Tibial muscular dystrophy is most common in Finland, where it is estimated to affect at least 10 per 100,000 people. This condition has also been found in people of Finnish descent living in other countries. Additionally, tibial muscular dystrophy has been identified in several European families without Finnish ancestry.
1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. The signs and symptoms of 1p36 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals.
The prevalence of 8p11 myeloproliferative syndrome is unknown. It is thought to be a rare condition.
XLA occurs in approximately 1 in 200,000 newborns.
These resources address the diagnosis or management of biotin-thiamine-responsive basal ganglia disease: - Gene Review: Gene Review: Biotin-Thiamine-Responsive Basal Ganglia 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
Cirrhosis affects more than 600,000 people in the United States; cryptogenic cirrhosis likely accounts for 5 to 30 percent of these cases.
Scleroderma is an autoimmune disorder that involves changes in the skin, blood vessels, muscles, and internal organs. There are two main types: localized scleroderma, which affects only the skin; and systemic scleroderma, which affects the blood vessels and internal organs, as well as the skin. These two main types also have different sub-types. Localized scleroderma can be divided in: Linear scleroderma (en coup de sabre) Morphea (localized, generalized, guttata and deep). Systemic scleroderma is subdivided in: Diffuse cutaneous systemic sclerosis Limited cutaneous systemic sclerosis (which includes CREST syndrome) Limited Systemic Sclerosis (or systemic sclerosis sine scleroderm). There are also cases of environmentally-induced scleroderma and cases where scleroderma is part of other rheumatic disorders, like rheumatoid arthritis, lupus or Sjogren syndrome. The underlying cause of scleroderma is currently unknown; however, some scientists suspect that it may be related to a buildup of collagen in the skin and other organs due to an abnormal immune system response. There is no cure, but various treatments can relieve symptoms.
Millions of Americans are able to lead healthy, productive lives while living with osteoporosis. If you have been feeling symptoms of depressionsuch as loss of appetite, hopelessness, feeling useless and helpless, or having thoughts of suicidefor more than 2 weeks, consult a doctor, social worker, or therapist. Medications and counseling are available to fight depression. Learn more about the emotional impact of osteoporosis. Learn more about older adults and depression. (Watch the video to learn more about coping with osteoporosis. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)
Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.
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 result from new mutations in the gene and occur in people with no history of the disorder in their family.
What are the symptoms of pityriasis lichenoides chronica? Pityriasis lichenoides chronica usually starts out as a small pink papule that turns a reddish-brown color. There is usually a fine, mica-like adherent scale attached to the center which can be peeled off to reveal a shiny, pinkish brown surface. Over several weeks, the spot flattens out spontaneously and leaves behind a brown mark, which fades over several months. Pityriasis lichenoides chronica most commonly occurs over the trunk, buttocks, arms and legs, but may also occur on the hands, feet, face and scalp. Unlike the acute type of pityriasis lichenoides, lesions associated with pityriasis lichenoides chronica are not painful, itchy or irritating. What symptoms are associated with pityriasis lichenoides chronica (PLC)? PLC is the milder form of pityriasis lichenoides, and the lesions associated with this form consist of small, firm, red-brown spots. Unlike PLEVA, the lesions are not irritating and have mica-like adherent scale, which can be scraped off to reveal a shiny brown surface. The spot flattens out over several weeks to leave a brown mark which fades over several months. PLC can look like psoriasis, lichen planus, or insect bites.
Opsoclonus myoclonus is a rare neurological disorder characterized by an unsteady, trembling gait, myoclonus (brief, shock-like muscle spasms), and opsoclonus (irregular, rapid eye movements). Other symptoms may include difficulty speaking, poorly articulated speech, or an inability to speak. A decrease in muscle tone, lethargy, irritability, and malaise (a vague feeling of bodily discomfort) may also be present. Opsoclonus myoclonus may occur in association with tumors or viral infections. It is often seen in children with tumors.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support dysgraphia research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to treat, and ultimately, prevent dysgraphia.
The cause of adiposis dolorosa is unknown. The condition is thought to have a genetic component because a few families with multiple affected family members have been reported. However, no associated genes have been identified. Several other possible causes of adiposis dolorosa have been suggested, although none have been confirmed. They include the use of medications called corticosteroids, dysfunction of the endocrine system (which produces hormones), or changes in the deposition and breakdown of fat (adipose tissue metabolism). Researchers have also suggested that adiposis dolorosa could be an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's own tissues and organs. However, there is no firm evidence that the condition is related to abnormal inflammation or other immune system malfunction. It is unknown why adiposis dolorosa usually occurs in people who are overweight or obese, or why the signs and symptoms do not appear until mid-adulthood.
KSS is a slowly progressive disorder. The prognosis for individuals with KSS varies depending on the severity and the number of organs involved. Early diagnosis and periodic electrocardiogram (ECG) are important since heart block can cause death in 20 percent of patients. Early pacemaker implantation can be of great benefit and offer a longer life expectancy in many patients.
3-methylglutaconyl-CoA hydratase deficiency is a rare disorder; at least 20 cases have been reported in the scientific literature.
As many as one in 141 Americans has celiac disease, although most remain undiagnosed.2 Celiac disease affects children and adults in all parts of the world and is more common in Caucasians and females. Celiac disease is also more common among people with certain genetic diseases, including Down syndrome and Turner syndromea condition that affects girls' development.
IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus.) The most common infections in IRAK-4 deficiency are caused by the Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa bacteria. Most people with this condition have their first bacterial infection before age 2, and the infections can be life-threatening in infancy and childhood. Infections become less frequent with age. Most people with IRAK-4 deficiency have invasive bacterial infections, which can involve the blood (septicemia), the membrane covering the brain and spinal cord (meningitis), or the joints (leading to inflammation and arthritis). Invasive infections can also cause areas of tissue breakdown and pus production (abscesses) on internal organs. In addition, affected individuals can have localized infections of the upper respiratory tract, skin, or eyes. Although fever is a common reaction to bacterial infections, many people with IRAK-4 deficiency do not at first develop a high fever in response to these infections, even if the infection is severe.
Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: Dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool.
Popliteal pterygium syndrome is a rare condition, occurring in approximately 1 in 300,000 individuals.
Neuroblastoma is a tumor that develops from a nerve in a child, usually before the age of 5. It occurs in the abdomen near the adrenal glands, but it can also occur in other parts of the body. It is considered an aggressive tumor because it often spreads to other parts of the body (metastasizes). The symptoms of a neuroblastoma may include a lump in the abdomen, pain, diarrhea, or generally feeling unwell. It affects one out of 100,000 children. The exact cause of this tumor is not yet known. Neuroblastoma may be diagnosed by physical examination; specific blood tests; imaging tests such as x-rays, magnetic resonance imaging (MRI), or computed tomography (CT) scans; and a biopsy. Treatment depends on the size and location of the tumor within the body, as well as the childs age. Surgery is often the first step of treatment, and may be followed by chemotherapy, radiation therapy, or a stem cell transplant in more severe cases.
Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. Signs and symptoms of primary carnitine deficiency typically appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), a weakened and enlarged heart (cardiomyopathy), confusion, vomiting, muscle weakness, and low blood sugar (hypoglycemia). The severity of this condition varies among affected individuals. Some people with primary carnitine deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. All individuals with this disorder are at risk for heart failure, liver problems, coma, and sudden death. Problems related to primary carnitine deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.
Fatal familial insomnia (FFI) is an inherited prion disease that affects the brain and other parts of the nervous system. Prion diseases, also known as transmissible spongiform encephalopathies (TSE), are a group of rare neurodegenerative conditions that occur when abnormal proteins clump together and accumulate in the brain, leading to tissue damage. The first symptoms of FFI usually begin in mid-life and may include insomnia that worsens over time and vivid dreams when sleep is achieved. These symptoms may be followed by high blood pressure; episodes of hyperventilation; excessive tearing; and/or sexual and urinary tract dysfunction. As the disease progresses, most affected people develop ataxia. FFI usually leads to death within a few months to a few years. Genetic prion diseases are inherited in an autosomal dominant manner and may be caused by mutations in the PRNP gene. Treatment aims at alleviating symptoms when possible.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia). Most people with MELAS have a buildup of lactic acid in their bodies, a condition called lactic acidosis. Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. Less commonly, people with MELAS may experience involuntary muscle spasms (myoclonus), impaired muscle coordination (ataxia), hearing loss, heart and kidney problems, diabetes, and hormonal imbalances.
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 microscope to look for scar tissue
Everyone has gas. Most people pass gas 13 to 21 times a day. Passing gas through the mouth is called belching or burping. Passing gas through the anus is called flatulence. Most of the time gas does not have an odor. The odor comes from bacteria in the large intestine that release small amounts of gases that contain sulfur. Gas in the digestive tract comes from two sources: air that you swallow and the breakdown of undigested food by bacteria in the large intestine. Certain foods may cause gas. Foods that produce gas in one person may not cause gas in another. You can reduce the amount of gas you have by - Drinking lots of water and non-fizzy drinks - Eating more slowly so you swallow less air when you eat - Avoiding milk products if you have lactose intolerance Medicines can help reduce gas or the pain and bloating caused by gas. If your symptoms still bother you, see your health care provider. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
What causes Ollier disease? The exact cause of Ollier disease is not known. It is usually a sporadic, non-familial disorder, however, in some cases, it may be inherited as an autosomal dominant genetic trait.
Is 47, XYY syndrome inherited? 47, XYY syndrome is usually not inherited. It is typically due to a random event during the formation of a sperm cell. Recurrence of 47, XYY syndrome in a family is rare. The recurrence risk for siblings and other family members is not thought to be increased. Additionally, men with 47, XYY are not reported to have an increased risk for a child with a chromosome variation. People with personal questions about recurrence risks are encouraged to speak with a genetic counselor or other genetic professional.
A pinworm ("threadworm") is a small, thin, white roundworm (nematode) called Enterobius vermicularis that sometimes lives in the colon and rectum of humans. Pinworms are about the length of a staple. While an infected person sleeps, female pinworms leave the intestine through the anus and deposit their eggs on the surrounding skin.
How might Greig cephalopolysyndactyly syndrome be treated? Treatment for Greig cephalopolysyndactyly syndrome (GCPS) is symptomatic. Treatment might include elective surgical repair of polydactyly. Evaluation and treatment of hydrocephalus might additionally occur if hydrocephalus is present. Hydrocephalus is a condition characterized by excessive accumulation of fluid in the brain. This fluid is cerebrospinal fluid (CSF) - a clear fluid that surrounds the brain and spinal cord. Excess CSF builds up when it cannot drain from the brain due to a blockage in a passage through which the fluid normally flows. This excess fluid causes an abnormal widening of spaces in the brain called ventricles; this can create harmful pressure on brain tissue. Treatment of hydrocephalus often includes surgical insertion of a shunt system-in which a catheters (tubes) are surgically placed behind both ears. A valve (fluid pump) is placed underneath the skin behind the ear and is connected to both catheters. When extra pressure builds up around the brain, the valve opens, and excess fluid drains through the catheter. This helps lower pressure within the skull (intracranial pressure).
How might Down syndrome be treated? Early intervention services, quality educational programs, a stimulating home environment, good health care, and positive support from family and friends can help people with Down syndrome develop to their full potential. The overall goal of treatment is to boost cognition by improving learning, memory, and speech. Other treatments depend on the specific health problems or complications present in each affected person. The Research Down syndrome Foundation have a webpage with information about active reseach projects.
Gestational* diabetes is a type of diabetes that develops only during pregnancy. Diabetes means your blood glucose, also called blood sugar, is too high. Your body uses glucose for energy. Too much glucose in your blood is not good for you or your baby. Gestational diabetes is usually diagnosed during late pregnancy. If you are diagnosed with diabetes earlier in your pregnancy, you may have had diabetes before you became pregnant. Treating gestational diabetes can help both you and your baby stay healthy. You can protect your baby and yourself by taking action right away to control your blood glucose levels. If you have gestational diabetes, a health care team will likely be part of your care. In addition to your obstetrician-gynecologist, or OB/GYNthe doctor who will deliver your babyyour team might include a doctor who treats diabetes, a diabetes educator, and a dietitian to help you plan meals. For Women with Type 1 or Type 2 Diabetes If you already have type 1 or type 2 diabetes and are thinking about having a baby, talk with your doctor before you get pregnant. Untreated or poorly controlled diabetes can cause serious problems for your baby. More information is provided in the NIDDK health topic, What I need to know about Preparing for Pregnancy if I Have Diabetes or call 18008608747 and request a copy. *See the Pronunciation Guide for tips on how to say the words in bold type.
Family history and ancestry are the two risk factors for thalassemias. Family History Thalassemias are inheritedthat is, the genes for the disorders are passed from parents to their children. If your parents have missing or altered hemoglobin-making genes, you may have thalassemia. Ancestry Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent.
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.
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.
There is no definitive treatment for Kleine-Levin syndrome and watchful waiting at home, rather than pharmacotherapy, is most often advised. Stimulant pills, including amphetamines, methylphenidate, and modafinil, are used to treat sleepiness but may increase irritability and will not improve cognitive abnormalities. Because of similarities between Kleine-Levin syndrome and certain mood disorders, lithium and carbamazepine may be prescribed and, in some cases, have been shown to prevent further episodes. This disorder should be differentiated from cyclic re-occurrence of sleepiness during the premenstrual period in teen-aged girls, which may be controlled with birth control pills. It also should be differentiated from encephalopathy, recurrent depression, or psychosis.
Cigarette smoking is the most common cause of COPD. Most people with COPD are smokers or have been smokers in the past. Breathing in other fumes and dusts over long periods of time can also lead to COPD. Pipe, cigar, and other types of tobacco smoking can cause COPD, especially if the smoke is inhaled. Exposure to secondhand smoke can play a role in causing COPD. Most people with COPD are at least 40 years old or around middle age when symptoms start.
Edema means swelling caused by fluid in your body's tissues. It usually occurs in the feet, ankles and legs, but it can involve your entire body. Causes of edema include - Eating too much salt - Sunburn - Heart failure - Kidney disease - Liver problems from cirrhosis - Pregnancy - Problems with lymph nodes, especially after mastectomy - Some medicines - Standing or walking a lot when the weather is warm To keep swelling down, your health care provider may recommend keeping your legs raised when sitting, wearing support stockings, limiting how much salt you eat, or taking a medicine called a diuretic - also called a water pill.
Heparin-induced thrombocytopenia (HIT) is an adverse reaction to the drug heparin resulting in an abnormally low amount of platelets (thrombocytopenia). HIT is usually an immune response which typically occurs 4-10 days after exposure to heparin; it can lead to serious complications and be life-threatening. This condition occurs in up to 5% of those who are exposed to heparin. Characteristic signs of HIT are a drop in platelet count of greater than 50% and/or the formation of new blood clots during heparin therapy. The first step of treatment is to discontinue and avoid all heparin products immediately. Often, affected individuals require another medicine to prevent blood clotting (anticoagulants).
Sweat is a clear, salty liquid produced by glands in your skin. Sweating is how your body cools itself. You sweat mainly under your arms and on your feet and palms. When sweat mixes with bacteria on your skin, it can cause a smell. Bathing regularly and using antiperspirants or deodorants can help control the odor. Sweating a lot is normal when it is hot or when you exercise, are anxious, or have a fever. It also happens during menopause. If you often sweat too much, it's called hyperhidrosis. Causes include thyroid or nervous system disorders, low blood sugar, or another health problem. Sweating too little, anhidrosis, can be life-threatening because your body can overheat. Causes of anhidrosis include dehydration, burns, and some skin and nerve disorders.
Lujan syndrome appears to be an uncommon condition, but its prevalence is unknown.
Mutations in the KIAA0196 gene cause spastic paraplegia type 8. The KIAA0196 gene provides instructions for making a protein called strumpellin. Strumpellin is active (expressed) throughout the body, although its exact function is unknown. The protein's structure suggests that strumpellin may interact with the structural framework inside cells (the cytoskeleton) and may attach (bind) to other proteins. KIAA0196 gene mutations are thought to change the structure of the strumpellin protein. It is unknown how the altered strumpellin protein causes the signs and symptoms of spastic paraplegia type 8.
Bronchitis is an inflammation of the bronchial tubes, the airways that carry air to your lungs. It causes a cough that often brings up mucus. It can also cause shortness of breath, wheezing, a low fever, and chest tightness. There are two main types of bronchitis: acute and chronic. Most cases of acute bronchitis get better within several days. But your cough can last for several weeks after the infection is gone. The same viruses that cause colds and the flu often cause acute bronchitis. These viruses spread through the air when people cough, or though physical contact (for example, on unwashed hands). Being exposed to tobacco smoke, air pollution, dusts, vapors, and fumes can also cause acute bronchitis. Less often, bacteria can also cause acute bronchitis. To diagnose acute bronchitis, your health care provider will ask about your symptoms and listen to your breathing. You may also have other tests. Treatments include rest, fluids, and aspirin (for adults) or acetaminophen to treat fever. A humidifier or steam can also help. You may need inhaled medicine to open your airways if you are wheezing. Antibiotics won't help if the cause is viral. You may get antibiotics if the cause is bacterial. NIH: National Heart, Lung, and Blood Institute
Drinking plenty of fluids is important when diarrhea or frequent passage of loose or liquid stools occurs. Avoiding caffeine and foods that are greasy, high in fiber, or sweet may lessen diarrhea symptoms. Some people also have problems digesting lactosethe sugar found in milk and milk productsduring or after a bout of diarrhea. Yogurt, which has less lactose than milk, is often better tolerated. Yogurt with active, live bacterial cultures may even help people recover from diarrhea more quickly. If diarrhea symptoms improve, soft, bland foods can be added to the diet, including bananas, plain rice, boiled potatoes, toast, crackers, cooked carrots, and baked chicken without the skin or fat. If the diarrhea stops, a normal diet may be resumed if tolerated.
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.
Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy). It is characterized by a loss of intellectual functioning (dementia) and seizures. At first, affected individuals may have difficulty sustaining attention and concentrating. They may experience repetitive thoughts, speech, or movements. As the condition progresses, their personality changes and judgment, insight, and memory become impaired. Affected people lose the ability to perform the activities of daily living, and most eventually require comprehensive care. The signs and symptoms of FENIB vary in their severity and age of onset. In severe cases, the condition causes seizures and episodes of sudden, involuntary muscle jerking or twitching (myoclonus) in addition to dementia. These signs can appear as early as a person's teens. Less severe cases are characterized by a progressive decline in intellectual functioning beginning in a person's forties or fifties.
Hemangioma thrombocytopenia syndrome is characterized by profound thrombocytopenia in association with two rare vascular tumors: kaposiform hemangioendotheliomas and tufted angiomas. The profound thrombocytopenia can cause life threatening bleeding and progress to a disseminated coagulopathy in patients with these tumors. The condition typically occurs in early infancy or childhood, although prenatal cases (diagnosed with the aid of ultrasonography), newborn presentations, and rare adult cases have been reported.
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 head and neck squamous cell carcinoma: - Cancer.Net: Head and Neck Cancer: Treatment Options - National Cancer Institute: Head and Neck Cancers 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
Infertility is a term doctors use if a man hasn't been able to get a woman pregnant after at least one year of trying. Causes of male infertility include - Physical problems with the testicles - Blockages in the ducts that carry sperm - Hormone problems - A history of high fevers or mumps - Genetic disorders - Lifestyle or environmental factors About a third of the time, infertility is because of a problem with the man. One third of the time, it is a problem with the woman. Sometimes no cause can be found. If you suspect you are infertile, see your doctor. There are tests that may tell if you have fertility problems. When it is possible to find the cause, treatments may include medicines, surgery, or assisted reproductive technology. Happily, many couples treated for infertility are able to have babies. NIH: National Institute of Child Health and Human Development
Fucosidosis is a condition that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. People with this condition often have delayed development of motor skills such as walking; the skills they do acquire deteriorate over time. Additional signs and symptoms of fucosidosis include impaired growth; abnormal bone development (dysostosis multiplex); seizures; abnormal muscle stiffness (spasticity); clusters of enlarged blood vessels forming small, dark red spots on the skin (angiokeratomas); distinctive facial features that are often described as "coarse"; recurrent respiratory infections; and abnormally large abdominal organs (visceromegaly). In severe cases, symptoms typically appear in infancy, and affected individuals usually live into late childhood. In milder cases, symptoms begin at age 1 or 2, and affected individuals tend to survive into mid-adulthood. In the past, researchers described two types of this condition based on symptoms and age of onset, but current opinion is that the two types are actually a single disorder with signs and symptoms that range in severity.
Muscle relaxing drugs such as baclofen, diazepam, and dantrolene may be prescribed to reduce spasticity. All of these drugs can be taken by mouth, but baclofen may also be injected directly into the cerebrospinal fluid through an implanted pump. Botulinum toxin is often used to relieve hypertonia in a specific area of the body because its effects are local, not body-wide. People with hypertonia should try to preserve as much movement as possibly by exercising within their limits and using physical therapy. Drugs that affect the dopamine system (dopamine is a chemical in the brain) such as levodopa/carbidopa, or entacapone, are often used to treat the rigidity associated with Parkinson's disease.
What treatment is available for Tay syndrome? Treatments for Tay syndrome are symptomatic. There is no cure for ichthyosis, only treatments to help manage symptoms. The main treatment for ichthyosis is to hydrate (moisturize) the skin, hold in the moisture, and keep scale thickness to a minimum.
Barraquer-Simons syndrome, or acquired partial lipodystrophy, is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen. Occasionally the groin or thighs are also affected. Onset usually begins in childhood following a viral illness. It affects females more often than males. The fat loss usually has a 18 month course, but can come and go over the course of several years. Following puberty, affected women may experience a disproportionate accumulation of fat in the hips and lower limbs. Around 1 in 5 people with this syndrome develop membranoproliferative glomerulonephritis. This kidney condition usually develops more than 10 years after the lipodystrophy's onset. Autoimmune disorders may also occur in association with this syndrome.
Pneumonia is an infection in one or both of the lungs. Many germs, such as bacteria, viruses, and fungi, can cause pneumonia. You can also get pneumonia by inhaling a liquid or chemical. People most at risk are older than 65 or younger than 2 years of age, or already have health problems. Symptoms of pneumonia vary from mild to severe. See your doctor promptly if you - Have a high fever - Have shaking chills - Have a cough with phlegm that doesn't improve or gets worse - Develop shortness of breath with normal daily activities - Have chest pain when you breathe or cough - Feel suddenly worse after a cold or the flu Your doctor will use your medical history, a physical exam, and lab tests to diagnose pneumonia. Treatment depends on what kind you have. If bacteria are the cause, antibiotics should help. If you have viral pneumonia, your doctor may prescribe an antiviral medicine to treat it. Preventing pneumonia is always better than treating it. Vaccines are available to prevent pneumococcal pneumonia and the flu. Other preventive measures include washing your hands frequently and not smoking. NIH: National Heart, Lung, and Blood Institute
These resources address the diagnosis or management of isobutyryl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of isobutyryl-CoA dehydrogenase - MedlinePlus Encyclopedia: Dilated Cardiomyopathy 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 causes Ehlers-Danlos syndrome progeroid type? Ehlers-Danlos syndrome progeroid type is caused by changes (mutations) in both of an individual's copies of the B4GALT7 gene, which is located on chromosome 5. This gene provides instructions for making an enzyme that is involved in the production of collagen (the main protein in connective tissue). When not enough enzyme is made by the B4GALT7 genes, collagen is not formed correctly in connective tissue. The symptoms of the disorder are caused by weak connective tissue. Researchers are still studying exactly how mutations in the B4GALT7 gene cause the signs and symptoms of Ehlers-Danlos syndrome progeroid type.
These resources address the diagnosis or management of PDGFRB-associated chronic eosinophilic leukemia: - Cancer.Net: Leukemia--Eosinophilic: Treatment - Genetic Testing Registry: Myeloproliferative disorder, chronic, with eosinophilia - MedlinePlus Encyclopedia: Eosinophil Count--Absolute - Seattle Cancer Care Alliance: Hypereosinophilia 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
Melnick-Needles syndrome is a rare disorder; fewer than 100 cases have been reported worldwide.
Is cryptogenic organizing pneumonia inherited? We are not aware of any familial cases of cryptogenic organizing pneumonia (COP) in the medical literature, and to our knowledge, there is no evidence that some people may be genetically predisposed to developing COP.
Myoclonus-dystonia is a movement disorder that typically affects the upper half of the body. Individuals with this condition experience quick, involuntary muscle jerking or twitching (myoclonus) that usually affects their arms, neck, and trunk. Less frequently, the legs are involved as well. More than half of affected individuals also develop dystonia, which is a pattern of involuntary muscle contractions that causes twisting and pulling movements of specific body parts. The dystonia associated with myoclonus-dystonia may affect a single part of the body, causing isolated problems such as a writer's cramp in the hand, or it may involve multiple areas of the body. Rarely, people with this condition have dystonia as their only symptom. The movement problems usually appear in childhood or early adolescence, and myoclonus is typically the initial symptom. Myoclonus may be triggered by movement or stimulation of the affected body area, stress, sudden noise, or caffeine. In some cases, the myoclonus gets worse over time; in other cases, people experience a spontaneous improvement (remission) of their symptoms. It is unclear why the movement abnormalities improve in some people but not in others. People with myoclonus-dystonia may have an increased risk for developing psychological conditions such as depression, anxiety, panic attacks, and obsessive-compulsive disorder (OCD).
Signs of nasopharyngeal cancer include trouble breathing, speaking, or hearing. These and other signs and symptoms may be caused by nasopharyngeal cancer or by other conditions. Check with your doctor if you have any of the following: - A lump in the nose or neck. - A sore throat. - Trouble breathing or speaking. - Nosebleeds. - Trouble hearing. - Pain or ringing in the ear. - Headaches.
How is familial hypercholesterolemia inherited? Familial hypercholesterolemia (FH) is usually inherited in an autosomal dominant manner (in which case it is referred to as heterozygous FH). Individuals inherit two copies of each gene (one from each parent). In an autosomal dominant condition, having only one abnormal (mutated) copy of the gene is sufficient to cause the condition. In most cases the mutated gene is inherited from an affected parent, but it is possible for the mutation to occur for the first time in the affected individual. An individual with an autosomal dominant condition has a 50% (1 in 2) chance to pass the mutation on to each of his/her children and a 50% chance to not pass on the mutation. More rarely, familial FH may be inherited in an autosomal recessive manner. This occurs when an individual inherits a mutated copy of the gene from both parents (this is also called homozygous FH). This is a much more severe form of FH. An individual with this form of FH will always pass on a mutated copy of the gene, and therefore each of his/her children will have heterozygous FH.
Gingivitis is inflammation of the gums. In gingivitis, the gums become red, swollen and can bleed easily. Gingivitis is a mild form of gum disease. It can usually be reversed with daily brushing and flossing, and regular cleaning by a dentist or dental hygienist. This form of gum disease does not include any loss of bone and tissue that hold teeth in place.
Signs and symptoms of chronic lymphocytic leukemia include swollen lymph nodes and tiredness. Usually CLL does not cause any signs or symptoms and is found during a routine blood test. Signs and symptoms may be caused by CLL or by other conditions. Check with your doctor if you have any of the following: - Painless swelling of the lymph nodes in the neck, underarm, stomach, or groin. - Feeling very tired. - Pain or fullness below the ribs. - Fever and infection. - Weight loss for no known reason.
Rabson-Mendenhall syndrome is a genetic disorder characterized by severe insulin resistance. Insulin, a hormone produced by the pancreas, regulates blood sugar levels by promoting the movement of glucose into cells for energy production or into the liver and fat cells for storage. Symptoms of Rabson-Mendenhall syndrome may include intrauterine and postnatal growth retardation, hypertrophy of muscle and fat tissues, abnormalities of the head and face, abnormalities of the teeth and nails, and skin abnormalities such as acanthosis nigricans. Additional symptoms may also be present. Rabson-Mendenhall syndrome is inherited in an autosomal recessive manner. Treatment is difficult and may include high doses of insulin and/or recombinant insulin-like growth factor.
How is congenital bilateral absence of the vas deferens (CBAVD) inherited? When this condition is caused by mutations in the CFTR gene, it is inherited in an autosomal recessive pattern. This pattern of inheritance means that both copies of the gene in each cell have a mutation. Parents of a person with CBAVD each carry one CFTR mutation, but are usually unaffected (carriers). Men with CBAVD who choose to father children through assisted reproduction have an increased risk of having a child with cystic fibrosis. If congenital absence of the vas deferens is not caused by mutations in CFTR, the risk of having children with cystic fibrosis is not increased. The risk to siblings of a person with CBAVD depends on the affected person's CFTR gene mutation(s) and cannot readily be predicted without this information. Genetic testing is most informative when the CBAVD-causing mutations have been identified in the affected individual. Men with CBAVD sometimes have only one identifiable CFTR mutation, complicating the testing and interpretation of results in their family members. We recommend speaking with a genetics professional about risk to other family members as well as any appropriate genetic testing.
Hemangiopericytoma is a term used to described a group of tumors that are derived from pericytes, the cells normally arranged along specific types of blood vessels called capillaries and venules. These types of tumors are typically slow-growing, may be either benign (non-cancerous) or malignant (cancerous), and may occur anywhere in the body.
Mutations in the HSD3B2 gene cause 3-HSD deficiency. The HSD3B2 gene provides instructions for making the 3-HSD enzyme. This enzyme is found in the gonads and adrenal glands. The 3-HSD enzyme is involved in the production of many hormones, including cortisol, aldosterone, androgens, and estrogen. Cortisol has numerous functions such as maintaining energy and blood sugar levels, protecting the body from stress, and suppressing inflammation. Aldosterone is sometimes called the salt-retaining hormone because it regulates the amount of salt retained by the kidney. The retention of salt affects fluid levels and blood pressure. Androgens and estrogen are essential for normal sexual development and reproduction. 3-HSD deficiency is caused by a deficiency (shortage) of the 3-HSD enzyme. The amount of functional 3-HSD enzyme determines whether a person will have the salt-wasting or non-salt-wasting type of the disorder. Individuals with the salt-wasting type have HSD3B2 gene mutations that result in the production of very little or no enzyme. People with the non-salt-wasting type of this condition have HSD3B2 gene mutations that allow the production of some functional enzyme, although in reduced amounts.
Is chronic inflammatory demyelinating polyneuropathy (CIDP) inherited? CIDP is not known to be inherited and is considered an acquired disorder. No clear genetic predisposition or other predisposing factors for CIDP have been identified.
How is eosinophilic enteropathy diagnosed? Endoscopy and biopsy is the only way to confirm the diagnosis of eosinophilic enteropathy. During an endoscopy, a gastroenterologist looks at the gastrointestinal tract through an endoscope and takes multiple small samples (biopsies), which a pathologist reviews. A high number of eosinophils suggests the diagnosis of eosinophilic enteropathy. The pathologist will also look at the location of the eosinophils, changes in the tissue layers, and degranulation (spilling of the contents of the eosinophils). Eosinophils may be normally found in small numbers in all areas of the gastrointestinal tract except the esophagus. However, the number of eosinophils seen in individuals with eosinophilic enteropathy is much higher. Once the diagnosis of eosinophilic enteropathy is confirmed, food allergy testing is typically recommended to guide treatment. Tests for food allergies include skin prick testing, patch testing, and a Radioallergosorbent test (RAST).
Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. Seizure types, which vary among patients, include tonic (stiffening of the body, upward deviation of the eyes, dilation of the pupils, and altered respiratory patterns), atonic (brief loss of muscle tone and consciousness, causing abrupt falls), atypical absence (staring spells), and myoclonic (sudden muscle jerks). There may be periods of frequent seizures mixed with brief, relatively seizure-free periods. Most children with Lennox-Gastaut syndrome experience some degree of impaired intellectual functioning or information processing, along with developmental delays, and behavioral disturbances. Lennox-Gastaut syndrome can be caused by brain malformations, perinatal asphyxia, severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In 30-35 percent of cases, no cause can be found.
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, movement disorder characterized by a progressive degeneration of the nervous system (neurodegenerative disorder). PKAN is generally separated into classic and atypical forms. Children with classic PKAN develop symptoms in the first ten years of life. The atypical form of PKAN usually occurs after the age of ten and progresses more slowly. All individuals with PKAN have an abnormal buildup of iron in certain areas of the brain. A particular change, called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. PKAN is inherited in an autosomal recessive manner and is caused by changes (mutations) in the PANK2 gene.
What are the signs and symptoms of Nasopharyngeal carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Nasopharyngeal carcinoma. 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) Neoplasm - 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.
Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial septal defect. The underdeveloped right side of the heart is unable to provide enough blood flow to the body, leading to low blood oxygen and cyanosis. It differs from hypoplastic left heart syndrome which involves the underdevelopment of the structures on the left side of the heart.
Weissenbacher-Zweymller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. This condition has features that are similar to those of another skeletal disorder, otospondylomegaepiphyseal dysplasia (OSMED). Infants born with Weissenbacher-Zweymller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are shaped like dumbbells, and the bones of the spine (vertebrae) may also be abnormally shaped. High-tone hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small, upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate). The skeletal features of Weissenbacher-Zweymller syndrome tend to diminish during childhood. Most adults with this condition are not unusually short, but do still retain the other features of Weissenbacher-Zweymller syndrome.
The uterus, or womb, is an important female reproductive organ. It is the place where a baby grows when a women is pregnant. There are different types of uterine cancer. The most common type starts in the endometrium, the lining of the uterus. This type of cancer is sometimes called endometrial cancer. The symptoms of uterine cancer include - Unusual vaginal bleeding or discharge - Trouble urinating - Pelvic pain - Pain during intercourse Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation. NIH: National Cancer Institute
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 Jervell and Lange-Nielsen syndrome: - Gene Review: Gene Review: Jervell and Lange-Nielsen Syndrome - Genetic Testing Registry: Jervell and Lange-Nielsen syndrome - MedlinePlus Encyclopedia: Arrhythmias 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
Use of tobacco products and heavy drinking can affect the risk of developing hypopharyngeal cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors include the following: - Smoking tobacco. - Chewing tobacco. - Heavy alcohol use. - Eating a diet without enough nutrients. - Having Plummer-Vinson syndrome.
Meesmann corneal dystrophy can result from mutations in either the KRT12 gene or the KRT3 gene. These genes provide instructions for making proteins called keratin 12 and keratin 3, which are found in the corneal epithelium. The two proteins interact to form the structural framework of this layer of the cornea. Mutations in either the KRT12 or KRT3 gene weaken this framework, causing the corneal epithelium to become fragile and to develop the cysts that characterize the disorder. The cysts likely contain clumps of abnormal keratin proteins and other cellular debris. When the cysts rupture, they cause eye irritation and the other symptoms of Meesmann corneal dystrophy.
These resources address the diagnosis or management of Joubert syndrome: - Gene Review: Gene Review: Joubert Syndrome and Related Disorders - Genetic Testing Registry: Familial aplasia of the vermis - Genetic Testing Registry: Joubert syndrome 10 - Genetic Testing Registry: Joubert syndrome 2 - Genetic Testing Registry: Joubert syndrome 3 - Genetic Testing Registry: Joubert syndrome 4 - Genetic Testing Registry: Joubert syndrome 5 - Genetic Testing Registry: Joubert syndrome 6 - Genetic Testing Registry: Joubert syndrome 7 - Genetic Testing Registry: Joubert syndrome 8 - Genetic Testing Registry: Joubert syndrome 9 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
Cerebral arteriosclerosis is the result of thickening and hardening of the walls of the arteries in the brain. Symptoms of cerebral arteriosclerosis include headache, facial pain, and impaired vision. Cerebral arteriosclerosis can cause serious health problems. If the walls of an artery are too thick, or a blood clot becomes caught in the narrow passage, blood flow to the brain can become blocked and cause an ischemic stroke. When the thickening and hardening is uneven, arterial walls can develop bulges (called aneurysms). If a bulge ruptures, bleeding in the brain can cause a hemorrhagic stroke. Both types of stroke can be fatal. Cerebral arteriosclerosis is also related to a condition known as vascular dementia, in which small, symptom-free strokes cause cumulative damage and death to neurons (nerve cells) in the brain. Personality changes in the elderly, such as apathy, weeping, transient befuddlement, or irritability, might indicate that cerebral arteriosclerosis is present in the brain. Computer tomography (CT) and magnetic resonance imaging (MRI) of the brain can help reveal the presence of cerebral arteriosclerosis before ischemic strokes, hemorrhagic strokes, or vascular dementia develop.
Psoriatic arthritis affects an estimated 24 in 10,000 people. Between 5 and 10 percent of people with psoriasis develop psoriatic arthritis, according to most estimates. Some studies suggest a figure as high as 30 percent. Psoriasis itself is a common disorder, affecting approximately 2 to 3 percent of the population worldwide.
Summary : Puberty is the time in life when a boy or girl becomes sexually mature. It is a process that usually happens between ages 10 and 14 for girls and ages 12 and 16 for boys. It causes physical changes, and affects boys and girls differently. In girls: - The first sign of puberty is usually breast development. - Then hair grows in the pubic area and armpits. - Menstruation (or a period) usually happens last. In boys: - Puberty usually begins with the testicles and penis getting bigger. - Then hair grows in the pubic area and armpits. - Muscles grow, the voice deepens, and facial hair develops as puberty continues. Both boys and girls may get acne. They also usually have a growth spurt (a rapid increase in height) that lasts for about 2 or 3 years. This brings them closer to their adult height, which they reach after puberty. NIH: National Institute of Child Health and Human Development

Subsets and Splits

No community queries yet

The top public SQL queries from the community will appear here once available.