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What causes congenital anosmia? Congenital anosmia may occur as an isolated abnormality or be associated with specific genetic disorders (such as Kallmann syndrome and congenital insensitivity to pain). Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with...
How is Proud syndrome inherited? Proud syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and m...
What are the signs and symptoms of Polycystic ovarian syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic ovarian syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl...
There is no treatment available to slow the course of corticobasal degeneration, and the symptoms of the disease are generally resistant to therapy. Drugs used to treat Parkinson disease-type symptoms do not produce any significant or sustained improvement. Clonazepam may help the myoclonus. Occupational, physical, and...
How might scapuloperoneal myopathy be treated? There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises.
These resources address the diagnosis or management of Erdheim-Chester disease: - Histiocytosis Association: Erdheim-Chester Disease Diagnosis and Treatment These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surge...
What are the signs and symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive nonsyndromic congenital nuclear cataract. If the information is available, the table below includes how often the sympto...
Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent sy...
Carbamoyl phosphate synthetase I deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complication...
Another imaging technique used for stroke patients is the magnetic resonance imaging or MRI scan. MRI uses magnetic fields to detect a variety of changes in the brain and blood vessels caused by a stroke. One effect of ischemic stroke is the slowing of water movement through the injured brain tissue. An MRI can show th...
Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. Your gallbla...
People with SPS respond to high doses of diazepam and several anti-convulsants, gabapentin and tiagabine. A recent study funded by the NINDS demonstrated the effectiveness of intravenous immunoglobulin (IVIg) treatment in reducing stiffness and lowering sensitivity to noise, touch, and stress in people with SPS.
A single mutation in the TSPYL1 gene has caused all identified cases of SIDDT. This gene provides instructions for making a protein called TSPY-like 1, whose function is unknown. Based on its role in SIDDT, researchers propose that TSPY-like 1 is involved in the development of the male reproductive system and the brain...
These resources address the diagnosis or management of centronuclear myopathy: - Genetic Testing Registry: Autosomal recessive centronuclear myopathy - Genetic Testing Registry: Myopathy, centronuclear - Genetic Testing Registry: Myopathy, centronuclear, 1 - Genetic Testing Registry: Myopathy, centronuclear, 4 - G...
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.
Mandibuloacral dysplasia is a rare condition; its prevalence is unknown.
Crusted scabies (also called Norwegian scabies) is a severe form of scabies that most often occurs in people who have a weakened immune system, neurological disease, the elderly, the disabled, or those who are mentally incapacitated. It is characterized by thick crusts of skin that contain large numbers of scabies mite...
What are the signs and symptoms of Precocious puberty? The Human Phenotype Ontology provides the following list of signs and symptoms for Precocious puberty. 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 Diction...
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.
Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar...
Achondroplasia is the most common type of short-limbed dwarfism. The condition occurs in 1 in 15,000 to 40,000 newborns.
Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene. This gene provides instructions for making an enzyme called formylglycine-generating enzyme (FGE). This enzyme is found in a cell structure called the endoplasmic reticulum, which is involved in protein processing and transport. The FGE enzyme modi...
The inheritance pattern of primary sclerosing cholangitis is unknown because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having an affected family member is a risk factor for developing the disease.
Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the tissue that makes up the lip does not join completely before birth. This causes an opening in t...
No drugs have been shown to be totally effective for the treatment of Baylisascaris infection. Albendazole, a broad spectrum anthelmintic, has been recommended for specific cases. Early treatment might reduce serious damage caused by the infection. Should you suspect you may have ingested raccoon feces, seek immed...
How might human T-cell leukemia virus, type 2 be treated? No cure or treatment exists for human T-cell leukemia virus, type 2 (HTLV-2). Management is focused on early detection and preventing the spread of HTLV-2 to others. Screening blood doners, promoting safe sex and discouraging needle sharing can decrease the numb...
CATSPER1-related nonsyndromic male infertility is a condition that affects the function of sperm, leading to an inability to father children. Males with this condition produce sperm that have decreased movement (motility). Affected men may also produce a smaller than usual number of sperm cells or sperm cells that are ...
Certain factors increase the risk of developing coronary heart disease and having a heart attack. These risk factors include some things you cannot change. You are at greater risk if you - are a man over age 45 or a woman over age 55. - have a family history of early heart disease -- heart disease in a father or bro...
The following changes in diet may help prevent UTIs and kidney stone formation: - Drinking plenty of water and other liquids can help flush bacteria from the urinary tract and dilute urine so kidney stones cannot form. A person should drink enough liquid to produce about 2 to 2.5 quarts of urine every ...
A lack of oxygen-rich blood reaching the brain, kidneys, skin, and other parts of the body causes the signs and symptoms of cardiogenic shock. Some of the typical signs and symptoms of shock usually include at least two or more of the following: Confusion or lack of alertness ...
There is no specific treatment for Marburg hemorrhagic fever. Supportive hospital therapy should be utilized, which includes balancing the patient's fluids and electrolytes, maintaining oxygen status and blood pressure, replacing lost blood and clotting factors, and treatment for any complicating infections. Experim...
Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. Alpha-galactosidase A normally breaks down a fatty substance called globotriaosy...
Hepatitis* C is a virus, or infection, that causes liver disease and inflammation of the liver. Viruses can cause sickness. For example, the flu is caused by a virus. People can pass viruses to each other. Inflammation is swelling that occurs when tissues of the body become injured or infected. Inflamm...
Young syndrome is a condition whose signs and symptoms may be similar to those seen in cystic fibrosis, including bronchiectasis, sinusitis, and obstructive azoospermia (a condition in which sperm are produced but do not mix with the rest of the ejaculatory fluid due to a physical obstruction, resulting in nonexistent ...
- Vesicoureteral reflux (VUR) is the abnormal flow of urine from the bladder to the upper urinary tract. - VUR is more common in infants and young children, but older children and even adults can be affected. About 10 percent of children have VUR. - In many cases, a child with VUR has no symptoms. When symptoms are p...
In people who have been bitten by the flies that carry Loa loa in areas where Loa loa is known to exist, the diagnosis can be made in the following ways: - Identification of the adult worm by a microbiologist or pathologist after its removal from under the skin or eye - Identification of an adult worm in the e...
Limiting intake of fats, cholesterol, sodium, and sugar can help prevent atherosclerosis, which can lead to RAS. Most sodium in the diet comes from salt. A healthy diet that prevents people from becoming overweight or obese can also help prevent atherosclerosis. People with RAS that has caused decreased kidney function...
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.
Dextrocardia is a condition in which the heart is located in the right side of the chest instead of the left. It is usually present from birth (congenital). There are several types of dextrocardia. The simplest type occurs when the shape and structure of the heart is a mirror image of a normal heart. Other types of d...
This condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
These resources address the diagnosis or management of methemoglobinemia, beta-globin type: - Genetic Testing Registry: Methemoglobinemia, beta-globin type - KidsHealth from Nemours: Blood Test: Hemoglobin - MedlinePlus Encyclopedia: Hemoglobin - MedlinePlus Encyclopedia: Methemoglobinemia - MedlinePlus Encycloped...
FTDP-17 is caused by mutations in the MAPT gene. This gene is located on chromosome 17, which is how the disease got its name. The MAPT gene provides instructions for making a protein called tau. This protein is found throughout the nervous system, including in nerve cells (neurons) in the brain. It is involved in ass...
What are the signs and symptoms of Congenital lipoid adrenal hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital lipoid adrenal hyperplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c...
Dentinogenesis imperfecta type 2 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by the condition may have weak and discolored teeth. These problems can affect both primary (baby) teeth and permanent teeth. People with this form of dentinogenesis imper...
RLS is generally a life-long condition for which there is no cure. Symptoms may gradually worsen with age. Nevertheless, current therapies can control the disorder, minimizing symptoms and increasing periods of restful sleep. In addition, some individuals have remissions, periods in which symptoms decrease or disappear...
More than 200 people with mevalonate kinase deficiency have been reported worldwide; the majority of these individuals have HIDS.
If you have gestational diabetes, your doctor may recommend that you have some extra tests to check your baby's health, such as - ultrasound exams, which use sound waves to make images that show your baby's growth and whether your baby is larger than normal - a nonstress test, which uses a monitor pla...
Individuals with Pompe disease are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care. The discovery of the GAA gene has led to rapid progress in understanding the biological mechanisms and p...
To prevent cysticercosis, the following precautions should be taken: - Wash your hands with soap and warm water after using the toilet, changing diapers, and before handling food - Teach children the importance of washing hands to prevent infection - Wash and peel all raw vegetables and fruits befor...
Symptoms of depression often vary depending upon the person. Common symptoms include - feeling nervous or emotionally empty - tiredness or a "slowed down" feeling - feeling guilty or worthless - restlessness and irritability - feeling like life is not worth living - sleep problems such as insomnia, oversleeping or...
LCHAD deficiency, or long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, is a mitochondrial condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms typically appear during infancy or early childhood and can include feeding diffic...
Key Points - Renal cell cancer is a disease in which malignant (cancer) cells form in tubules of the kidney. - Smoking and misuse of certain pain medicines can affect the risk of renal cell cancer. - Signs of renal cell cancer include blood in the urine and a lump in the abdomen. - Tests t...
Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is u...
Causes of diarrhea include - bacteria from contaminated food or water - viruses that cause illnesses such as the flu - parasites, which are tiny organisms found in contaminated food or water - medicines such as antibiotics - problems digesting certain foods - diseases that affect the stomach, smal...
Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis. Affected infants have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Bones in the skull develop ...
You can try to find the cause of gas by keeping a diary of what you eat and drink and how often you burp, pass gas, or have other symptoms. The diary may help you identify the foods that cause you to have gas. Talk with your health care provider if - gas symptoms often bother you - yo...
Eye Diseases and Health Conditions Most people develop low vision because of eye diseases and health conditions like macular degeneration, cataracts, glaucoma, and diabetes. Your eye care professional can tell the difference between normal changes in the aging eye and those caused by eye diseases. Injuries and Birth De...
You have two kidneys, each about the size of your fist. Their main job is to filter wastes and excess water out of your blood to make urine. They also keep the body's chemical balance, help control blood pressure, and make hormones. Chronic kidney disease (CKD) means that your kidneys are damaged and can't filter bl...
What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 17. If the information is available, the table below includes how often the symptom is...
Protein C deficiency is inherited in an autosomal dominant pattern, which means one altered copy of the PROC gene in each cell is sufficient to cause mild protein C deficiency. Individuals who inherit two altered copies of this gene in each cell have severe protein C deficiency.
Brody disease is a type of myopahty or "disease of muscle." Signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise. The condition tends to be inherited in an autosomal recessive fashion. Some cases of Brody disease are caused by mutations in a gene called ATP2A1, for other cases ...
Mutations in the C10orf2 gene cause IOSCA. The C10orf2 gene provides instructions for making two very similar proteins called Twinkle and Twinky. These proteins are found in the mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. Mitochondria each contain a...
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.
Estimates of PKDs prevalence range from one in 400 to one in 1,000 people.1 According to the United States Renal Data System, PKD accounts for 2.2 percent of new cases of kidney failure each year in the United States. Annually, eight people per 1 million have kidney failure as a result of PKD.2 Polycys...
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether it affects part of the nasopharynx, involves the whole nasopharynx, or has spread to other places in the body). - ...
Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the "cephalic" or head end of the neural tube fails to close, ...
Caudal regression syndrome is estimated to occur in 1 to 2.5 per 100,000 newborns. This condition is much more common in infants born to mothers with diabetes when it affects an estimated 1 in 350 newborns.
- Cyclic vomiting syndrome, sometimes referred to as CVS, is an increasingly recognized disorder with sudden, repeated attacksalso called episodesof severe nausea, vomiting, and physical exhaustion that occur with no apparent cause. - The disorder can affect a person for months, years, or decades. - The cause of cycl...
What is the genetic basis of erythropoietic protoporphyria? Erythropoietic protoporphyria is caused by mutations in the FECH gene.
These resources address the diagnosis or management of Imerslund-Grsbeck syndrome: - MedlinePlus Encyclopedia: Anemia - B12 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation ...
Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, toot...
These resources address the diagnosis or management of polycythemia vera: - Genetic Testing Registry: Polycythemia vera - MPN Research Foundation: Diagnosis - MedlinePlus Encyclopedia: Polycythemia Vera These resources from MedlinePlus offer information about the diagnosis and management of various health conditio...
The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each sid...
A health care provider may recommend changing a childs diet to treat the cause of chronic diarrhea. Making sure that children receive proper nutrition is important for growth and development. A childs parent or caretaker should talk with a health care provider about changing the childs diet to treat chronic diarrhea.
This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. In males (who have...
HMERF is a rare condition. It has been reported in several families of Swedish and French descent, and in at least one individual from Italy.
A number of studies suggest that eating certain foods may help keep the brain healthyand that others can be harmful. Researchers are looking at whether a healthy dietone that includes lots of fruits, vegetables, and whole grains and is low in fat and added sugarcan help prevent Alzheimers. For more information about he...
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to polymyositis in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Currently funded resea...
What are the signs and symptoms of Bladder cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Bladder cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l...
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ...
Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips...
Summary : Nutritional support is therapy for people who cannot get enough nourishment by eating or drinking. You may need it if you - Can't swallow - Have problems with your appetite - Are severely malnourished - Can't absorb nutrients through your digestive system You receive nutritional support ...
How is platelet storage pool deficiency diagnosed? A diagnosis of platelet storage pool deficiency is often suspected based on the presence of characteristic signs and symptoms. Specialized laboratory tests can then be ordered to confirm the diagnosis. This testing may include: Bleeding time studies Platelet aggregatio...
Most cases of Nager syndrome are sporadic, which means that they occur in people with no history of the disorder in their family. Less commonly, this condition has been found to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Autosomal...
To prevent cirrhosis, - see your doctor for treatment of your liver disease. Many of the causes of cirrhosis are treatable. Early treatment may prevent cirrhosis. - try to keep your weight in the normal range. Being overweight can make several liver diseases worse. - do not drink any alcohol. Alcoh...
What are the signs and symptoms of Johnston Aarons Schelley syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnston Aarons Schelley syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t...
APS improves significantly with anticoagulation therapy, which reduces the risk of further clots in veins and arteries. Treatment should be lifelong, since there is a high risk of further clots in individuals who stop warfarin treatment. Doctors often recommend that individuals stop smoking, exercise regularly, and eat...
Infants with biliary atresia often have nutritional deficiencies and require special diets as they grow up. They may need a higher calorie diet, because biliary atresia leads to a faster metabolism. The disease also prevents them from digesting fats and can lead to protein and vitamin deficiencies. Vitamin supplements ...
People can receive treatment as outpatients (they live at home and visit the doctor or other provider) or through inpatient services (they live temporarily at a special facility where they get treatment). The support of family and friends is important during the treatment process.
Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmenta...
Fatigue, or feeling extremely tired, is a common complaint during the first year after cancer treatment ends. Many factors may contribute to treatment-related fatigue, including cancer therapy or other problems such as stress, poor nutrition, and depression. Researchers are still learning about the multiple reasons for...
Meier-Gorlin syndrome is a rare condition; however, its prevalence is unknown.
Hyperparathyroidism-jaw tumor syndrome is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism), which regulate the body's use of calcium. In people with this condition, hyperparathyroidism is caused by benign tumors (adenomas) that form in the parathyroid glands. About 15...
Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip and/or a cleft palate. Affected individuals may have depressions (pits) near the center of the lower lip and small mounds of tissue on the lower lip. In some...
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research relating to myoclonus in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. Scientists are seeking to understand the under...
Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected pe...
Atrial fibrillation is the most common type of sustained abnormal heart rhythm (arrhythmia), affecting more than 3 million people in the United States. The risk of developing this irregular heart rhythm increases with age. The incidence of the familial form of atrial fibrillation is unknown; however, recent studies sug...
How is Prader-Willi syndrome diagnosed? There are clinical diagnostic criteria for Prader-Willi syndrome (PWS) that were developed in the past that continue to be useful. These criteria can be viewed on the National Institute of Health's NICHD Web site. However, the current mainstay of a diagnosis when PWS is suspected...
During an emergencysuch as a serious accident, possible heart attack, or other life-threatening eventyou might be started on oxygen therapy right away. Otherwise, your doctor will decide whether you need oxygen therapy based on test results. An arterial blood gas test and a pulse oximetry test can meas...
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.