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Freeman-Sheldon syndrome is a rare disorder; its exact prevalence is unknown.
Valley Fever is a disease caused by a fungus (or mold) called Coccidioides. The fungi live in the soil of dry areas like the southwestern U.S. You get it from inhaling the spores of the fungus. The infection cannot spread from person to person. Anyone can get Valley Fever. But it's most common among older adults, especially those 60 and older. People who have recently moved to an area where it occurs are at highest risk for infection. Other people at higher risk include - Workers in jobs that expose them to soil dust. These include construction workers, agricultural workers, and military forces doing field training. - African Americans and Asians - Women in their third trimester of pregnancy - People with weak immune systems Valley Fever is often mild, with no symptoms. If you have symptoms, they may include a flu-like illness, with fever, cough, headache, rash, and muscle aches. Most people get better within several weeks or months. A small number of people may develop a chronic lung or widespread infection. Valley Fever is diagnosed by testing your blood, other body fluids, or tissues. Many people with the acute infection get better without treatment. In some cases, doctors may prescribe antifungal drugs for acute infections. Severe infections require antifungal drugs. Centers for Disease Control and Prevention
These resources address the diagnosis or management of cytochrome P450 oxidoreductase deficiency: - Gene Review: Gene Review: Cytochrome P450 Oxidoreductase Deficiency - Genetic Testing Registry: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The prevalence of arginine:glycine amidinotransferase deficiency is unknown. The disorder has been identified in only a few families.
What causes agenesis of the dorsal pancreas? Partial or complete agenesis of the dorsal pancreas results from the failure of the dorsal pancreatic bud to form the body and tail of the pancreas in the developing fetus. It may occur from the absence, or regression of, the dorsal bud during fetal development. Heredity may play a role in the development of this condition, but further research is needed to clarify this. There have been reports in the literature of the condition being associated (rarely) with other congenital diseases, specifically a very rare disorder called polysplenia/heterotaxy syndrome. In this case, it may occur due to errors in development of the asymmetric organs and may be associated with benign to severe congenital cardiac (heart) malformations.
Is Hirschsprung's disease inherited? Hirschsprung's disease (HSCR) usually occurs occurs by itself without other symptoms and is called isolated HSCR. Isolated HSCR has multifactorial inheritance, which means that multiple genes interact with environmental factors to cause the condition. When someone has a child with isolated HSCR, the overall risk to have another child with the condition is 4%. There are some factors that can change the risk. For example, the risk is higher if the sibling has long-segment disease rather than short-segment disease. Also males are more likely than females to develop HSCR. Another factor is if the siblings have the same or different parents. If HSCR occurs as part of a genetic syndrome, then it is inherited in a specific pattern. For example, the inheritance may be autosomal recessive, autosomal dominant, or X-linked recessive, depending on the exact cause of the syndrome. Individuals who are interested in learning about their personal risks or risks to family members should speak with their health care provider or a genetics professional.
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.
What are the signs and symptoms of Nystagmus, congenital motor, autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus, congenital motor, autosomal recessive. 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) Autosomal recessive inheritance - Congenital nystagmus - 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.
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.
Signs of Wilms tumor and other childhood kidney tumors include a lump in the abdomen and blood in the urine. Sometimes childhood kidney tumors do not cause signs and symptoms and the parent finds a mass in the abdomen by chance or the mass is found during a well-child health check up. These and other signs and symptoms may be caused by kidney tumors or by other conditions. Check with your child's doctor if your child has any of the following: - A lump, swelling, or pain in the abdomen. - Blood in the urine. - High blood pressure (headache, feeling very tired, chest pain, or trouble seeing or breathing). - Hypercalcemia (loss of appetite, nausea and vomiting, weakness, or feeling very tired). - Fever for no known reason. - Loss of appetite. - Weight loss for no known reason. Wilms tumor that has spread to the lungs or liver may cause the following signs and symptoms: - Cough. - Blood in the sputum. - Trouble breathing. - Pain in the abdomen.
These resources address the diagnosis or management of PDGFRA-associated chronic eosinophilic leukemia: - Cancer.Net: Leukemia - Eosinophilic: Treatment - Genetic Testing Registry: Idiopathic hypereosinophilic syndrome - 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
What are the symptoms reported in children who have Lemierre syndrome? In children and adolescents, Lemierre syndrome usually begins with a severe sore throat, persistent fever, and possibly chills. Some cases begin with acute otitis media. As the syndrome progresses, there is neck pain and tender swelling along the internal jugular vein.[ If undiagnosed, the next stage is the "metastasis" of septic emboli to the lungs, abdominal organs, brain or heart. Lung involvement typically results in a productive cough (a cough that brings up mucus or phlegm) and chest pain. Girls may report abdominal pain and have enlargement of the liver (hepatomegaly) and jaundice, all of which indicate involvement of the liver.
17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare disorder. Researchers have estimated that this condition occurs in approximately 1 in 147,000 newborns. It is more common in the Arab population of Gaza, where it affects 1 in 200 to 300 people.
How is Troyer syndrome inherited? Troyer syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has: a 25% (1 in 4) chance to be affected a 50% (1 in 2) chance to be an unaffected carrier like each parent a 25% chance to be unaffected and not be a carrier.
These resources address the diagnosis or management of Larsen syndrome: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Larsen syndrome - Genetic Testing Registry: Larsen syndrome, dominant type 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 ADAMTS10 and FBN1 genes can cause Weill-Marchesani syndrome. The ADAMTS10 gene provides instructions for making a protein whose function is unknown. This protein is important for normal growth before and after birth, and it appears to be involved in the development of the eyes, heart, and skeleton. Mutations in this gene disrupt the normal development of these structures, which leads to the specific features of Weill-Marchesani syndrome. A mutation in the FBN1 gene has also been found to cause Weill-Marchesani syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. This protein is needed to form threadlike filaments, called microfibrils, that help provide strength and flexibility to connective tissue. The FBN1 mutation responsible for Weill-Marchesani syndrome leads to an unstable version of fibrillin-1. Researchers believe that the unstable protein interferes with the normal assembly of microfibrils, which weakens connective tissue and causes the abnormalities associated with Weill-Marchesani syndrome. In some people with Weill-Marchesani syndrome, no mutations in ADAMTS10 or FBN1 have been found. Researchers are looking for other genetic changes that may be responsible for the disorder in these people.
These resources address the diagnosis or management of Meckel syndrome: - Genetic Testing Registry: Meckel syndrome type 1 - Genetic Testing Registry: Meckel syndrome type 2 - Genetic Testing Registry: Meckel syndrome type 3 - Genetic Testing Registry: Meckel syndrome type 4 - Genetic Testing Registry: Meckel syndrome type 5 - Genetic Testing Registry: Meckel syndrome type 6 - Genetic Testing Registry: Meckel syndrome type 7 - Genetic Testing Registry: Meckel syndrome type 8 - Genetic Testing Registry: Meckel syndrome, type 10 - Genetic Testing Registry: Meckel syndrome, type 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
Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome) is a condition that affects development of the ears and teeth. In people with this condition, the structures that form the inner ear are usually completely absent (labyrinthine aplasia). Rarely, affected individuals have some underdeveloped inner ear structures in one or both ears. The abnormalities of the inner ear cause a form of hearing loss called sensorineural deafness that is present from birth (congenital). Because the inner ear is important for balance as well as hearing, development of motor skills, such as sitting and crawling, may be delayed in affected infants. In addition, people with LAMM syndrome often have abnormally small outer ears (microtia) with narrow ear canals. They can also have unusually small, widely spaced teeth (microdontia).
Mutations in the FGD1 gene cause some cases of Aarskog-Scott syndrome. The FGD1 gene provides instructions for making a protein that turns on (activates) another protein called Cdc42, which transmits signals that are important for various aspects of embryonic development. Mutations in the FGD1 gene lead to the production of an abnormally functioning protein. These mutations disrupt Cdc42 signaling, which causes the wide variety of developmental abnormalities seen in Aarskog-Scott syndrome. Only about 20 percent of people with this disorder have identifiable mutations in the FGD1 gene. The cause of Aarskog-Scott syndrome in other affected individuals is unknown.
Hypoglycemia causes symptoms such as - hunger - shakiness - nervousness - sweating - dizziness or light-headedness - sleepiness - confusion - difficulty speaking - anxiety - weakness Hypoglycemia can also happen during sleep. Some signs of hypoglycemia during sleep include - crying out or having nightmares - finding pajamas or sheets damp from perspiration - feeling tired, irritable, or confused after waking up
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.
Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, pre- and postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. The condition is caused by mutations in the insulin receptor gene (INSR) gene. It is inherited in an autosomal recessive manner.
Alcohol, also known as ethanol, is a chemical found in beverages like beer, wine, and distilled spirits such as whiskey, vodka, and rum. Through a process called fermentation, yeast converts the sugars naturally found in grains and grapes into the alcohol that is in beer and wine. Another process, called distillation, concentrates alcohol in the drink making it stronger, producing what are known as distilled spirits.
Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, and salt craving. Also common is a tingling or prickly sensation in the skin (paresthesias), most often affecting the face. Some individuals with Gitelman syndrome experience excessive tiredness (fatigue), low blood pressure, and a painful joint condition called chondrocalcinosis. Studies suggest that Gitelman syndrome may also increase the risk of a potentially dangerous abnormal heart rhythm called ventricular arrhythmia. The signs and symptoms of Gitelman syndrome vary widely, even among affected members of the same family. Most people with this condition have relatively mild symptoms, although affected individuals with severe muscle cramping, paralysis, and slow growth have been reported.
Multiple endocrine neoplasia type 2A (MEN 2A) is is an inherited disorder caused by mutations in the RET gene. Individuals with MEN 2A are at high risk of developing medullary carcinoma of the thyroid. About 50% will develop pheochromocytoma, a tumor of the adrenal glands which may increase blood pressure. Individuals with MEN 2A are also at increased risk for parathyroid adenoma or hyperplasia (overgrowth of the parathyroid gland). Occasionally an itchy skin condition called cutaneous lichen amyloidosis also occurs in people with type 2A disease. The condition is inherited in an autosomal dominant manner.
These resources address the diagnosis or management of X-linked agammaglobulinemia: - Gene Review: Gene Review: X-Linked Agammaglobulinemia - Genetic Testing Registry: X-linked agammaglobulinemia - MedlinePlus Encyclopedia: Agammaglobulinemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of autosomal dominant hypocalcemia: - Genetic Testing Registry: Autosomal dominant hypocalcemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What are the signs and symptoms of T-cell lymphoma 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for T-cell lymphoma 1A. 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) Leukemia - T-cell lymphoma/leukemia - 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.
Brown syndrome is an eye disorder characterized by abnormalities in the eye's ability to move. Specifically, the ability to look up and in is affected by a problem in the superior oblique muscle/tendon. The condition may be present at birth (congenital) or it may develop following surgery or as a result of inflammation or a problem with development. Some cases are constant while other are intermittent. Treatment depends upon the cause and severity of the movement disorder. Options include close observation, nonsteroidal anti-inflammatory agents like Ibuprofen, corticosteroids, and surgery.
These resources address the diagnosis or management of Weaver syndrome: - Genetic Testing Registry: Weaver syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Tubular aggregate myopathy is a rare disorder. Its prevalence is unknown.
Tangier disease is a rare disorder with approximately 100 cases identified worldwide. More cases are likely undiagnosed. This condition is named after an island off the coast of Virginia where the first affected individuals were identified.
These resources address the diagnosis or management of Loeys-Dietz syndrome: - Gene Review: Gene Review: Loeys-Dietz Syndrome - Genetic Testing Registry: Loeys-Dietz syndrome - Genetic Testing Registry: Loeys-Dietz syndrome 1 - Genetic Testing Registry: Loeys-Dietz syndrome 2 - Genetic Testing Registry: Loeys-Dietz syndrome 3 - Genetic Testing Registry: Loeys-Dietz syndrome 4 - Johns Hopkins Medicine: Diagnosis of Craniosynostosis - MedlinePlus Encyclopedia: Aortic Dissection - National Heart Lung and Blood Institute: How Is an Aneurysm Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of cutis laxa: - Gene Review: Gene Review: ATP6V0A2-Related Cutis Laxa - Gene Review: Gene Review: ATP7A-Related Copper Transport Disorders - Gene Review: Gene Review: EFEMP2-Related Cutis Laxa - Gene Review: Gene Review: FBLN5-Related Cutis Laxa - Genetic Testing Registry: Autosomal recessive cutis laxa type IA - Genetic Testing Registry: Cutis laxa with osteodystrophy - Genetic Testing Registry: Cutis laxa, X-linked - Genetic Testing Registry: Cutis laxa, autosomal dominant - MedlinePlus Encyclopedia: Colon Diverticula (image) - MedlinePlus Encyclopedia: Emphysema (image) - MedlinePlus Encyclopedia: Hernia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What are the signs and symptoms of Talonavicular coalition? The Human Phenotype Ontology provides the following list of signs and symptoms for Talonavicular coalition. 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) Autosomal dominant inheritance - Clinodactyly of the 5th finger - Proximal/middle symphalangism of 5th finger - 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.
What are the symptoms of Prinzmetal's variant angina? The main symptom of Prinzmetal's variant angina is chest pain (angina) with the following characteristics: Occurs under the chest bone Described as squeezing, constricting, tightness, pressure, crushing Is usually severe and may radiate to the neck, jaw, shoulder, or arm Often occurs at rest Typically occurs at the same time each day, usually between midnight and 8am. Duration of pain is 5 to 30 minutes Pain is relieved by nitroglycerin Loss of consciousness
Key Points - Osteosarcoma and malignant fibrous histiocytoma (MFH) of the bone are diseases in which malignant (cancer) cells form in bone. - Having past treatment with radiation can increase the risk of osteosarcoma. - Signs and symptoms of osteosarcoma and MFH include swelling over a bone or a bony part of the body and joint pain. - Imaging tests are used to detect (find) osteosarcoma and MFH. - A biopsy is done to diagnose osteosarcoma. - Certain factors affect prognosis (chance of recovery) and treatment options. Osteosarcoma and malignant fibrous histiocytoma (MFH) of the bone are diseases in which malignant (cancer) cells form in bone. Osteosarcoma usually starts in osteoblasts, which are a type of bone cell that becomes new bone tissue. Osteosarcoma is most common in adolescents. It commonly forms in the ends of the long bones of the body, which include bones of the arms and legs. In children and adolescents, it often forms in the bones near the knee. Rarely, osteosarcoma may be found in soft tissue or organs in the chest or abdomen. Osteosarcoma is the most common type of bone cancer. Malignant fibrous histiocytoma (MFH) of bone is a rare tumor of the bone. It is treated like osteosarcoma. Ewing sarcoma is another kind of bone cancer, but it is not covered in this summary. See the PDQ summary about Ewing Sarcoma Treatment for more information.
Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis. Causes of muscle disorders include - Injury or overuse, such as sprains or strains, cramps or tendinitis - A genetic disorder, such as muscular dystrophy - Some cancers - Inflammation, such as myositis - Diseases of nerves that affect muscles - Infections - Certain medicines Sometimes the cause is not known.
Most cases of Miller-Dieker syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. When Miller-Dieker syndrome is inherited, its inheritance pattern is considered autosomal dominant because a deletion in one copy of chromosome 17 in each cell is sufficient to cause the condition. About 12 percent of people with Miller-Dieker syndrome inherit a chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with Miller-Dieker syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 17, which results in the health problems characteristic of this disorder.
Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities. Most, however, are developmentally delayed due to vision impairment or neurological problems.
Hemolytic uremic syndrome, atypical, childhood is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. It is often caused by a combination of environmental and genetic factors. Genetic factors involve genes that code for proteins that help control the complement system (part of your bodys immune system). Environmental factors include viral or bacterial infections, certain medications (such as anticancer drugs), chronic diseases, cancers, and organ transplantation. Most cases are sporadic. Less than 20 percent of all cases have been reported to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Atypical hemolytic-uremic syndrome differs from a more common condition called typical hemolytic-uremic syndrome. The two disorders have different causes and symptoms.
How is alopecia universalis diagnosed? A diagnosis of alopecia universalis is usually based on the signs and symptoms present in each person. In rare cases, a scalp biopsy may be needed to confirm the diagnosis.
How might primary familial brain calcification (PFBC) be treated? There is no standard course of treatment for PFBC. Treatment typically addresses symptoms on an individual basis. Medications may be used to improve anxiety, depression, obsessive-compulsive behaviors, and dystonia. Antiepileptic drugs (AEDs) can be prescribed for seizures. Oxybutynin may be prescribed for urinary incontinence (loss of bladder control). Surveillance typically includes yearly neurologic and neuropsychiatric assessments.
Ixodid (hard) ticks, especially those of the genus, Hyalomma, are both a reservoir and a vector for the CCHF virus. Numerous wild and domestic animals, such as cattle, goats, sheep and hares, serve as amplifying hosts for the virus. Transmission to humans occurs through contact with infected ticks or animal blood. CCHF can be transmitted from one infected human to another by contact with infectious blood or body fluids. Documented spread of CCHF has also occurred in hospitals due to improper sterilization of medical equipment, reuse of injection needles, and contamination of medical supplies.
In more than 99 percent of people with Rett syndrome, there is no history of the disorder in their family. Many of these cases result from new mutations in the MECP2 gene. A few families with more than one affected family member have been described. These cases helped researchers determine that classic Rett syndrome and variants caused by MECP2 gene mutations have an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. Males with mutations in the MECP2 gene often die in infancy. However, a small number of males with a genetic change involving MECP2 have developed signs and symptoms similar to those of Rett syndrome, including intellectual disability, seizures, and movement problems. In males, this condition is described as MECP2-related severe neonatal encephalopathy.
Is Williams syndrome inherited?
Various laboratory methods can be used to diagnose leishmaniasis—to detect the parasite as well as to identify the Leishmania species (type). Some of the methods are available only in reference laboratories. In the United States, CDC staff can assist with the testing for leishmaniasis. Tissue specimens—such as from skin sores (for cutaneous leishmaniasis) or from bone marrow (for visceral leishmaniasis)—can be examined for the parasite under a microscope, in special cultures, and in other ways. Blood tests that detect antibody (an immune response) to the parasite can be helpful for cases of visceral leishmaniasis; tests to look for the parasite itself usually also are done. More on: Resources for Health Professionals: Diagnosis
Northern epilepsy appears to affect only individuals of Finnish ancestry, particularly those from the Kainuu region of northern Finland. Approximately 1 in 10,000 individuals in this region have the condition.
Malignant hyperthermia is a severe reaction to particular drugs that are often used during surgery and other invasive procedures. Specifically, this reaction occurs in response to some anesthetic gases, which are used to block the sensation of pain, and with a muscle relaxant that is used to temporarily paralyze a person during a surgical procedure. If given these drugs, people at risk for malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. Without prompt treatment, the complications of malignant hyperthermia can be life-threatening. People at increased risk for this disorder are said to have malignant hyperthermia susceptibility. Affected individuals may never know they have the condition unless they undergo testing or have a severe reaction to anesthesia during a surgical procedure. While this condition often occurs in people without other serious medical problems, certain inherited muscle diseases (including central core disease and multiminicore disease) are associated with malignant hyperthermia susceptibility.
Aphasia is a disorder caused by damage to the parts of the brain that control language. It can make it hard for you to read, write, and say what you mean to say. It is most common in adults who have had a stroke. Brain tumors, infections, injuries, and dementia can also cause it. The type of problem you have and how bad it is depends on which part of your brain is damaged and how much damage there is. There are four main types: - Expressive aphasia - you know what you want to say, but you have trouble saying or writing what you mean - Receptive aphasia - you hear the voice or see the print, but you can't make sense of the words - Anomic aphasia - you have trouble using the correct word for objects, places, or events - Global aphasia - you can't speak, understand speech, read, or write Some people recover from aphasia without treatment. Most, however, need language therapy as soon as possible. NIH: National Institute of Neurological Disorders and Stroke
What causes epidermolysis bullosa acquisita? The underlying cause of epidermolysis bullosa acquisita (EBA) is not known. It is thought to be an autoimmune disorder, which means that the immune system attacks healthy cells by mistake. In EBA, certain immune proteins (usually IgG autoantibodies) mistakenly target and attack a specific type of collagen (a skin protein) involved in "anchoring" the skin. In some milder cases of EBA, the immune proteins involved are thought to be IgA, rather than IgG autoantibodies. The initiating event that leads to autoantibody production is unknown. EBA affecting several family members has been reported, suggesting a genetic component may be involved in some cases. Rarely, people with lupus, a systemic autoimmune disease, develop a generalized blistering skin disease with the features of EBA. EBA has also been associated with Crohn's disease.
What causes rheumatic fever? Rheumatic fever is an inflammatory condition that may develop approximately 14-28 days after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. About 5% of those with untreated strep infection will develop rheumatic fever. Although group A Streptococcus bacterial infections are highly contagious, rheumatic fever is not spread from person to person. The exact underlying cause of the condition is not well understood and it is unclear why some people with strep infections go on to develop rheumatic fever, while others do not. However, some scientists suspect that an exaggerated immune response in genetically susceptible people may play a role in the development of the condition.
Cerebellar degeneration refers to the deterioration of neurons in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex, and the brain stem. Signs and symptoms of cerebellar degeneration may include a wide-based, uncoordinated walk; a back and forth tremor in the trunk of the body; uncoordinated movements of the arms and legs; slow and slurred speech; and nystagmus. Cerebellar degeneration can be caused by a variety of factors including inherited gene changes (mutations), chronic alcohol abuse, and paraneoplastic disorders. Treatment for cerebellar degeneration varies depending on the underlying cause.
How is Ehlers-Danlos syndrome, kyphoscoliosis type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is typically based on the presence of characteristic signs and symptoms. The following tests may then be recommended to confirm the diagnosis: Urine tests and/or a skin biopsy to detect deficiencies in certain enzymes that are important for collagen formation Genetic testing for a change (mutation) in the PLOD1 gene
Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus.
Summary : Genes are the building blocks of inheritance. Passed from parent to child, they contain instructions for making proteins. If genes don't produce the right proteins or don't produce them correctly, a child can have a genetic disorder. Gene therapy is an experimental technique that uses genes to treat or prevent disease. The most common form of gene therapy involves inserting a normal gene to replace an abnormal gene. Other approaches include - Swapping an abnormal gene for a normal one - Repairing an abnormal gene - Altering the degree to which a gene is turned on or off Although there is much hope for gene therapy, it is still experimental. Genetics Home Reference
Health Alert: Adrenal Crisis Causes Death in Some People Who Were Treated with Human Growth Hormone National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Summary) National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) Creutzfeldt-Jakob Disease. Fact sheet of the National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH) NIH and Italian Scientists Develop Nasal Test for Human Prion Disease What is a prion?from Scientific American: Ask the Experts
Myxopapillary ependymoma (MEPN) is a slow-growing ependymoma (a type of glioma, which is a tumor that arises from the supportive tissue of the brain). They tend to occur in the lower part of the spinal column and are usually considered to be benign, low-grade or grade I tumors. The age of diagnosis ranges from 6 to 82 years. Symptoms of an ependymoma are related to the location and size of the tumor and may include nausea, vomiting, headache, pain, numbness, bowel or bladder symptoms, and various other signs and symptoms. The cause of ependymomas is unknown. They are known to recur locally (more commonly in individuals diagnosed in childhood). Treatment may vary depending on the location, grade, and whether the tumor has spread to the spine, but typically includes aggressive surgery. Management may also include chemotherapy and radiation therapy.
How might Schimke immunoosseous dysplasia be treated? Treatment of Schimke immunoosseous dysplasia (SIOD) is based on addressing individual symptoms as they develop. Renal transplantation can treat the renal disease, and bone marrow transplantation has been done to treat the immunodeficiency. Blood thinning medications can transiently improve blood flow through the atherosclerotic arteries but do not provide enduring relief from cerebral ischemia. Treatment with acyclovir and some antibacterial agents has been beneficial for preventing of reducing the frequency of opportunistic infections. More detailed information about treatment for SIOD can be found on the GeneReview's Web site. Click on the GeneReview link to read more.
Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. In rare cases individuals may have a form with non-progressive liver disease, or a severe neuromuscular form. GSD 4 is caused by mutations in the GBE1 gene and is inherited in an autosomal recessive manner. Treatment typically focuses on the specific symptoms that are present in each individual.
How might hemophagocytic lymphohistiocytosis be treated? The best treatment options for hemophagocytic lymphohistiocytosis (HLH) are determined by a number of factors, including the severity of symptoms, the age of onset, and the underlying cause of the condition. In acquired HLH, it is often necessary to treat the underlying condition. For example, antiobiotics or antiviral medications can be used to treat or prevent infections that may have triggered the exaggerated immune response. Allogeneic hematopoietic cell transplantation is considered a cure for familial HLH. It is often recommended that people with confirmed or suspected familial HLH undergo this treatment as early in life as possible. Prior to hematopoietic cell transplanation, affected people are usually treated with chemotherapy and/or immunotherapy to destroy excess immune cells which can lead to life-threatening inflammation.
Sick sinus syndrome accounts for 1 in 600 patients with heart disease who are over age 65. The incidence of this condition increases with age.
Geleophysic dysplasia results from mutations in the ADAMTSL2 gene. This gene provides instructions for making a protein whose function is unclear. The protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Studies suggest that the ADAMTSL2 protein may play a role in the microfibrillar network, which is an organized clustering of thread-like filaments (called microfibrils) in the extracellular matrix. This network provides strength and flexibility to tissues throughout the body. Mutations in the ADAMTSL2 protein likely change the protein's 3-dimensional structure. Through a process that is poorly understood, ADAMTSL2 gene mutations alter the microfibrillar network in many different tissues. Impairment of this essential network disrupts the normal functions of cells, which likely contributes to the varied signs and symptoms of geleophysic dysplasia. Researchers are working to determine how mutations in the ADAMTSL2 gene lead to short stature, heart disease, and the other features of this condition.
What treatment is available for mucopolysaccharidosis I (MPS I)? The two main treatments for MPS I are enzyme replacement therapy (ERT) and bone marrow transplant. Both of these treatments work by replacing the missing IDUA enzyme. A drug called laronidase or Aldurazyme is the enzyme replacement therapy for MPS I. Treatment with laronidase can improve problems with breathing, growth, the bones, joints and heart. However, this treatment is not expected to treat problems with mental development because laronidase cannot cross the blood-brain barrier. A bone marrow transplant is another treatment option that provides the person with MPS I with cells that can produce the IDUA enyzme. A bone marrow transplant can stop the progression of neurological problems.
Having a pain in your chest can be scary. It does not always mean that you are having a heart attack. There can be many other causes, including - Other heart problems, such as angina - Panic attacks - Digestive problems, such as heartburn or esophagus disorders - Sore muscles - Lung diseases, such as pneumonia, pleurisy, or pulmonary embolism - Costochondritis - an inflammation of joints in your chest Some of these problems can be serious. Get immediate medical care if you have chest pain that does not go away, crushing pain or pressure in the chest, or chest pain along with nausea, sweating, dizziness or shortness of breath. Treatment depends on the cause of the pain.
Griscelli syndrome is a rare condition; its prevalence is unknown. Type 2 appears to be the most common of the three known types.
What causes neonatal progeroid syndrome? The exact underlying cause of neonatal progeroid syndrome is unknown. Scientists suspect that it is a genetic condition; however, a disease-causing gene has not been identified.
Researchers have not found that eating, diet, and nutrition play a role in causing or preventing a cystocele.
Hypermethioninemia can have different inheritance patterns. This condition is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Hypermethioninemia is occasionally inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, an affected person usually has one parent with the condition.
These resources address the diagnosis or management of MyD88 deficiency: - Genetic Testing Registry: Myd88 deficiency 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
Adenylosuccinate lyase deficiency is a rare disorder; fewer than 100 cases have been reported. The condition is most common in the Netherlands and Belgium, but it has been found worldwide.
These resources address the diagnosis or management of Partington syndrome: - American Academy of Child and Adolescent Psychiatry: Services in School for Children with Special Needs - American Academy of Pediatrics: What is a Developmental/Behavioral Pediatrician? - Centers for Disease Control and Prevention: Developmental Screening Fact Sheet - Genetic Testing Registry: Partington X-linked mental retardation syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family. Rarely, a genetic change responsible for Angelman syndrome can be inherited. For example, it is possible for a mutation in the UBE3A gene or in the nearby region of DNA that controls gene activation to be passed from one generation to the next.
What causes plasminogen deficiency, type 1? Plasminogen deficiency, type 1 is caused by a mutation in a gene encoding plasminogen, an enzyme whose function is to dissolve fibrin clots. Fibrin clots form scabs at a wound site.
Cirrhosis is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue cannot do what healthy liver tissue does - make protein, help fight infections, clean the blood, help digest food and store energy. Cirrhosis can lead to - Easy bruising or bleeding, or nosebleeds - Swelling of the abdomen or legs - Extra sensitivity to medicines - High blood pressure in the vein entering the liver - Enlarged veins called varices in the esophagus and stomach. Varices can bleed suddenly. - Kidney failure - Jaundice - Severe itching - Gallstones A small number of people with cirrhosis get liver cancer. Your doctor will diagnose cirrhosis with blood tests, imaging tests, or a biopsy. Cirrhosis has many causes. In the United States, the most common causes are chronic alcoholism and hepatitis. Nothing will make the scar tissue disappear, but treating the cause can keep it from getting worse. If too much scar tissue forms, you may need to consider a liver transplant. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy. Other features include dementia, dystonia, and trouble walking or speaking. These rare disorders often get worse over time and sometimes are fatal. Many of these PME diseases begin in childhood or adolescence.
These resources address the diagnosis or management of 16p11.2 deletion syndrome: - Gene Review: Gene Review: 16p11.2 Recurrent Microdeletion - Genetic Testing Registry: 16p11.2 deletion syndrome - Genetic Testing Registry: Autism, susceptibility to, 14a 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
22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a chromosome abnormality caused by the loss (deletion) of a small piece of chromosome 22. The deletion occurs near the end of the long arm (or q arm) at a location designated as q13.3. The signs and symptoms of this condition vary widely from person to person. Common symptoms include low muscle tone (hypotonia), intellectual disability, delayed or absent speech, abnormal growth, tendency to overheat, large hands, and abnormal toenails. Affected individuals may have characteristic behaviors, such as mouthing or chewing on non-food items, decreased perception of pain, and autistic-like behaviors. The loss of a particular gene on chromosome 22, called the SHANK3 gene, is likely responsible for many of the signs and symptoms of 22q13.3 deletion syndrome. Additional genes within the deleted region probably contribute to the variable features of the syndrome.
Is Barrett esophagus inherited? Barrett esophagus usually occurs sporadically in people with no family history of the condition. In rare cases, it can affect more than one family member; however, it is unclear whether these cases are due to common environmental exposures or an inherited predisposition (or a combination of the two). One study found that some people with Barrett esophagus who go on to develop esophageal adenocarcinoma have changes (mutations) in the MSR1, ASCC1, and/or CTHRC1 genes. However, additional studies are needed to confirm these findings.
How is chromosome 4q deletion diagnosed? There are several different specialized tests that can be used to diagnose a chromosome 4q deletion. These include: Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions. FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a deletion of a specific region of 4q. Array CGH - a technology that detects deletions that are too small to be seen on karyotype.
Signs and symptoms of oropharyngeal cancer include a lump in the neck and a sore throat. These and other signs and symptoms may be caused by oropharyngeal cancer or by other conditions. Check with your doctor if you have any of the following: - A sore throat that does not go away. - Trouble swallowing. - Trouble opening the mouth fully. - Trouble moving the tongue. - Weight loss for no known reason. - Ear pain. - A lump in the back of the mouth, throat, or neck. - A white patch on the tongue or lining of the mouth that does not go away. - Coughing up blood. Sometimes oropharyngeal cancer does not cause early signs or symptoms.
Summary : Almost 1 of every 10 infants born in the United States are premature, or preemies. A premature birth is when a baby is born before 37 completed weeks of pregnancy. A full-term pregnancy is 40 weeks. Important growth and development happen throughout pregnancy - especially in the final months and weeks. Because they are born too early, preemies weigh much less than full-term babies. They may have health problems because their organs did not have enough time to develop. Problems that a baby born too early may have include - Breathing problems - Feeding difficulties - Cerebral palsy - Developmental delay - Vision problems - Hearing problems Preemies need special medical care in a neonatal intensive care unit, or NICU. They stay there until their organ systems can work on their own. Centers for Disease Control and Prevention
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. Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. In a small number of cases, an affected person has inherited the mutation from one affected parent.
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 side of the spine. Every day, the two kidneys process about 200 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra water. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine until releasing it through urination. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder.
In the early stages, diabetic kidney disease does not have any symptoms. Kidney disease happens so slowly that you may not feel sick at all for many years. You may not feel sick even when your kidneys do only half the job of healthy kidneys. Only your doctor can tell if you have kidney disease by checking the protein, or albumin, level in your urine at least once a year. The first symptom of diabetic kidney disease is often swelling in parts of your body, such as your hands, face, feet, or ankles. Also, large amounts of protein in your urine may cause urine to look foamy. Once your kidney function starts to decrease, other symptoms may include - increased or decreased urination - feeling drowsy or tired - feeling itchy or numb - dry skin - headaches - weight loss - not feeling hungry - feeling sick to your stomach - vomiting - sleep problems - trouble staying focused - darkened skin - muscle cramps
Infectious arthritis is joint pain, soreness, stiffness and swelling caused by a bacterial, viral, or fungal infection that spreads from another part of the body. Depending on the type of infection, one or more joints may be affected. Certain bacteria can cause a form of infectious arthritis called reactive arthritis, which appears to be caused by the immune system reacting to bacteria, rather than by the infection itself. In reactive arthritis, joint inflammation develops weeks, months or even years after the infection. Reactive arthritis happens most commonly after infections of the genital and gastrointestinal tracts. To diagnose infectious arthritis, your health care provider may do tests of your blood, urine, and joint fluid. Treatment includes medicines and sometimes surgery.
Key Points - Polycythemia vera is a disease in which too many red blood cells are made in the bone marrow. - Symptoms of polycythemia vera include headaches and a feeling of fullness below the ribs on the left side. - Special blood tests are used to diagnose polycythemia vera. Polycythemia vera is a disease in which too many red blood cells are made in the bone marrow. In polycythemia vera, the blood becomes thickened with too many red blood cells. The number of white blood cells and platelets may also increase. These extra blood cells may collect in the spleen and cause it to swell. The increased number of red blood cells, white blood cells, or platelets in the blood can cause bleeding problems and make clots form in blood vessels. This can increase the risk of stroke or heart attack. In patients who are older than 65 years or who have a history of blood clots, the risk of stroke or heart attack is higher. Patients also have an increased risk of acute myeloid leukemia or primary myelofibrosis.
The prevalence of PPM-X syndrome is unknown.
Central core disease is most often inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. Less commonly, central core disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but typically do not show signs and symptoms of the condition. People who carry one mutated copy of the RYR1 gene, however, may be at increased risk for malignant hyperthermia.
Pelvic pain occurs mostly in the lower abdomen area. The pain might be steady, or it might come and go. If the pain is severe, it might get in the way of your daily activities. If you're a woman, you might feel a dull pain during your period. It could also happen during sex. Pelvic pain can be a sign that there is a problem with one of the organs in your pelvic area, such as the uterus, ovaries, fallopian tubes, cervix or vagina. It could also be a symptom of infection, or a problem with the urinary tract, lower intestines, rectum, muscle or bone. If you're a man, the cause is often a problem with the prostate. You might have to undergo a lot of medical tests to find the cause of the pain. The treatment will depend on the cause, how bad the pain is and how often it occurs. NIH: National Institute of Child Health and Human Development
How might prune belly syndrome be treated? The initial evaluation of the newborn with prune belly syndrome requires a team consisting of a neonatologist, nephrologist, urologist and in some cases other specialists (e.g., cardiologist) as well. Treatment options depend on the child's age, health, medical history, extend of disease, tolerance for certain treatments or procedures, the expected course of the disease, and the parent's and/or guardian's opinions and preferences.[832] In general, surgery may be done to repair abdominal muscle, genital, and bladder problems. Antibiotics may be given to infants to treat or prevent urinary tract infections. Timing of therapy may vary from patient to patient. To learn more about your childs specific treatment options we recommend that you speak to her healthcare provider.
These resources address the diagnosis or management of sepiapterin reductase deficiency: - Gene Review: Gene Review: Sepiapterin Reductase Deficiency - Genetic Testing Registry: Sepiapterin reductase deficiency 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 SI gene cause congenital sucrase-isomaltase deficiency. The SI gene provides instructions for producing the enzyme sucrase-isomaltase. This enzyme is found in the small intestine and is responsible for breaking down sucrose and maltose into their simple sugar components. These simple sugars are then absorbed by the small intestine. Mutations that cause this condition alter the structure, disrupt the production, or impair the function of sucrase-isomaltase. These changes prevent the enzyme from breaking down sucrose and maltose, causing the intestinal discomfort seen in individuals with congenital sucrase-isomaltase deficiency.
How is multiple pterygium syndrome, Escobar type treated? There is currently no cure for multiple pterygium syndrome, Escobar type. As a result treatment is aimed at managing the associated symptoms. Orthopedics should be involved for issues arising from scoliosis. Infections should be treated promptly. Contracture releases have been performed with variable outcome. Physical therapy is important to help minimize contractures. When ptosis (droopy eyelids) is present, the patient should be referred to ophthalmology. Patients should also be referred to audiology due to the risk of conductive hearing loss.
Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Affected people lack an enzyme the adrenal glands need to make one or more of these hormones and often overproduce androgens (male hormones such as testosterone). The signs and symptoms present in each person depend on many factors including the type of CAH, the age of diagnosis, and the sex of the affected person. For example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after. People with milder forms may not be diagnosed with the condition until adolescence or adulthood when they experience early signs of puberty or fertility problems. Treatment for CAH varies but may include medication and/or surgery.
Noroviruses are a group of related viruses. Infection with these viruses causes an illness called gastroenteritis, an inflammation of the stomach and intestines. It can spread from person to person, or through contaminated food or water. You can also get it if you touch a contaminated surface. Norovirus can be serious, especially for young children and older adults. The most common symptoms of norovirus infection are - Diarrhea - Nausea and vomiting - Stomach pain Other symptoms may include fever, headache or body aches. Treatment includes bed rest and lots of liquids to prevent dehydration. There is no specific medicine to treat norovirus infections. Proper hand washing and safe food preparation may help prevent infections. Centers for Disease Control and Prevention
How might a thyroglossal duct cyst be treated? Surgical excision is the treatment of choice for uncomplicated thyroglossal duct cysts to prevent infection of the cyst. The Sistrunk procedure can be preformed to reduce the risk of recurrence. Infection of the cyst prior to surgery can make the removal more difficult and increase the chance for regrowth.
Researchers estimate that Peyronies disease may affect 1 to 23 percent of men between 40 and 70 years of age.1 However, the actual occurrence of Peyronies disease may be higher due to mens embarrassment and health care providers limited reporting.1 The disease is rare in young men, although it has been reported in men in their 30s.1 The chance of developing Peyronies disease increases with age.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for Wilms tumor depend on the following: - How different the tumor cells are from normal kidney cells when looked at under a microscope. - The stage of the cancer. - The type of tumor. - The age of the child. - Whether the tumor can be completely removed by surgery. - Whether there are certain changes in chromosomes or genes. - Whether the cancer has just been diagnosed or has recurred (come back). The prognosis for renal cell cancer depends on the following: - The stage of the cancer. - Whether the cancer has spread to the lymph nodes. The prognosis for rhabdoid tumor of the kidney depends on the following: - The age of the child at the time of diagnosis. - The stage of the cancer. - Whether the cancer has spread to the brain or spinal cord. The prognosis for clear cell sarcoma of the kidney depends on the following: - The age of the child at the time of diagnosis. - The stage of the cancer.
Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person.