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Fibrochondrogenesis appears to be a rare disorder. About 20 affected individuals have been described in the medical literature.
What are the signs and symptoms of Adrenocortical carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Adrenocortical carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med...
Bronchodilators and inhaled steroids are two medications used to treat COPD. Bronchodilators work by relaxing the muscles around the airways, opening them and making it easier to breathe. People with mild COPD take bronchodilators using an inhaler only when needed. Those with moderate or severe COPD may need more regul...
How might alopecia universalis be treated? Although these is no therapy approved for the treatment of alopecia universalis, some people find that medications approved for other purposes may help hair grow back, at least temporarily. Since alopecia universalis is one of the more severe types of alopecia areata, treatmen...
These resources address the diagnosis or management of renal coloboma syndrome: - Gene Review: Gene Review: Renal Coloboma Syndrome - Genetic Testing Registry: Renal coloboma syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Te...
Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches...
An arrhythmia is a problem with the rate or rhythm of your heartbeat. It means that your heart beats too quickly, too slowly, or with an irregular pattern. When the heart beats faster than normal, it is called tachycardia. When the heart beats too slowly, it is called bradycardia. The most common type of arrhythmia is ...
Endocarditis, also called infective endocarditis (IE), is an inflammation of the inner lining of the heart. The most common type, bacterial endocarditis, occurs when germs enter your heart. These germs come through your bloodstream from another part of your body, often your mouth. Bacterial endocarditis can damage your...
The inheritance pattern of mycosis fungoides has not been determined. Although the condition has been found in multiple members of more than a dozen families, it most often occurs in people with no history of the disorder in their family and is typically not inherited.
Hydrocephalus is most often treated with the surgical placement of a shunt system. This system diverts the flow of CSF from a site within the central nervous system to another area of the body where it can be absorbed as part of the circulatory process. A limited number of individuals can be treated with an alternative...
Researchers continue to search for the defective gene that causes INAD in hopes of developing drugs that can stop the disease. The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to INAD in its laboratories at the National Institutes of Health (NIH), and also supports additiona...
Moles are growths on the skin. They happen when pigment cells in the skin, called melanocytes, grow in clusters. Moles are very common. Most people have between 10 and 40 moles. A person may develop new moles from time to time, usually until about age 40. In older people, they tend to fade away. Moles are usually pi...
Prader-Willi Syndrome (PWS) is a rare genetic disorder. It causes poor muscle tone, low levels of sex hormones and a constant feeling of hunger. The part of the brain that controls feelings of fullness or hunger does not work properly in people with PWS. They overeat, leading to obesity. Babies with PWS are usually ...
Mutations in the IL2RG gene cause X-linked SCID. The IL2RG gene provides instructions for making a protein that is critical for normal immune system function. This protein is necessary for the growth and maturation of developing immune system cells called lymphocytes. Lymphocytes defend the body against potentially har...
These resources address the diagnosis or management of IRAK-4 deficiency: - Genetic Testing Registry: IRAK4 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Couns...
Many of the signs and symptoms of Marburg hemorrhagic fever are similar to those of other more frequent infectious diseases, such as malaria or typhoid fever, making diagnosis of the disease difficult. This is especially true if only a single case is involved. However, if a person has the early symptoms of Marburg H...
CADASIL is likely a rare condition; however, its prevalence is unknown.
Dent disease type 1 is a kidney disease seen mostly in males. The most frequent sign of Dent disease is the presence of an abnormally large amount of protein in the urine (proteinuria). Other common signs of the disorder include excess calcium in the urine (hypercalciuria), calcium deposits in the kidney (nephrocalcino...
Treatment of Cushing's syndrome depends on the cause of excess cortisol. If the cause is long-term use of a medication being used to treat another disorder, the physician may reduce the dosage until symptoms are under control. Surgery or radiotherapy may be used to treat pituitary adenomas. Surgery, radiotherapy, chemo...
These resources address the diagnosis or management of congenital leptin deficiency: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Are Obesity and Overweight Diagnosed? - Genetic Testing Registry: Obesity, severe, due to leptin deficiency - Genetics of Obesity Study - Nation...
Summary : An herb is a plant or plant part used for its scent, flavor, or therapeutic properties. Herbal medicines are one type of dietary supplement. They are sold as tablets, capsules, powders, teas, extracts, and fresh or dried plants. People use herbal medicines to try to maintain or improve their health. Many p...
Rippling muscle disease is usually inherited in an autosomal dominant pattern, but it is occasionally inherited in an autosomal recessive pattern. Autosomal dominant inheritance means that one copy of an altered CAV3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one paren...
Multiple familial trichoepithelioma is a rare disorder; its prevalence is unknown.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
These resources address the diagnosis or management of adenosine monophosphate deaminase deficiency: - MedlinePlus Encyclopedia: Muscle aches - MedlinePlus Encyclopedia: Weakness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests ...
Researchers have not found that eating, diet, and nutrition play a role in causing or preventing intestinal pseudo-obstruction. Following special diets usually does not help improve the disorder. However, eating frequent, small meals with pureed foods or liquids may ease digestion. Vitamin and trace mineral supplements...
The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. The urine flows from the kidneys...
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.
Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seiz...
West Nile virus (WNV) is an infectious disease that first appeared in the United States in 1999. Infected mosquitoes spread the virus that causes it. People who get WNV usually have no symptoms or mild symptoms. The symptoms include a fever, headache, body aches, skin rash, and swollen lymph glands. They can last a few...
Because there is no cure for CRPS, treatment is aimed at relieving painful symptoms. Doctors may prescribe topical analgesics, antidepressants, corticosteroids, and opioids to relieve pain. However, no single drug or combination of drugs has produced consistent long-lasting improvement in symptoms. Other treatments may...
The prevalence of BPES is unknown.
When steatocystoma multiplex is caused by mutations in the KRT17 gene, it is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the condition from an affected parent. ...
Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. People with this condition have muscle weakness (myopathy) due to the accumulation of fats in muscle tissue. Other features of this condition may include a fatty liver, a we...
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.
Key Points - There is no standard staging system for myelodysplastic/myeloproliferative neoplasms. There is no standard staging system for myelodysplastic/myeloproliferative neoplasms. Staging is the process used to find out h...
Pseudoachondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Most cases result from new mutations in the gene and occur in people with no h...
What are the signs and symptoms of Pterygium of the conjunctiva and cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium of the conjunctiva and cornea. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y...
You can take steps to prevent palpitations. Try to avoid things that trigger them. For example: Reduce anxiety and stress. Anxiety and stress (including panic attacks) are a common cause of harmless palpitations. Relaxation exercises, yoga or tai chi, biofeedback or guided imagery, or aromatherapy may ...
How might pontocerebellar hypoplasia type 1 be treated? There is no standard therapy for pontocerebellar hypoplasia type 1. Treatment is symptomatic and supportive.
What are the signs and symptoms of Cerebral sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral sarcoma. 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 ...
What are the signs and symptoms of Taurodontism, microdontia, and dens invaginatus? The Human Phenotype Ontology provides the following list of signs and symptoms for Taurodontism, microdontia, and dens invaginatus. If the information is available, the table below includes how often the symptom is seen in people with t...
A pineocytoma is a tumor of the pineal gland, a small organ in the brain that makes melatonin (a sleep-regulating hormone). Pineocytomas most often occur in adults as a solid mass, although they may appear to have fluid-filled (cystic) spaces on images of the brain. Signs and symptoms of pineocytomas include headaches,...
You've probably heard that high blood pressure is a problem. Sometimes blood pressure that is too low can also cause problems. Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps out blood into the arteries. Your blood pressure is highest when yo...
Gitelman syndrome affects an estimated 1 in 40,000 people worldwide.
PHA2 can be caused by mutations in the WNK1, WNK4, CUL3, or KLHL3 gene. These genes play a role in the regulation of blood pressure. The proteins produced from the WNK1 and WNK4 genes help control the amount of sodium and potassium in the body by regulating channels in the cell membrane that control the transport of s...
Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen. There are two main types of porphyrias. One affects the skin and the other affects the nervous system...
Opitz G/BBB syndrome is an inherited condition that affects several structures along the midline of the body. The most common features are wide-spaced eyes and defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing. Affected males usually have a urethra opening on the unde...
The prognosis for individuals with Rasmussens encephalitis varies. Despite the advances in medical treatment, none has yet been shown to halt the progress of the disease in the long term. The disorder may lead to severe neurological deficits or it may cause only milder impairments. For some children, surgery decreases ...
Troyer syndrome is one of more than 40 genetically-distinct neurological disorders known collectively as the hereditary spastic paraplegias. These disorders are characterized by their paramount feature of progressive muscle weakness and spasticity in the legs. Additional symptoms of Troyer syndrome (also called SPG20) ...
Guanidinoacetate methyltransferase deficiency is a very rare disorder. About 80 affected individuals have been described in the medical literature. Of these, approximately one-third are of Portuguese origin.
Is neonatal progeroid syndrome inherited? Although the underlying genetic cause of neonatal progeroid syndrome is unknown, studies suggest that it is likely 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. The ...
Deep brain stimulation, or DBS, is a surgical procedure used to treat a variety of disabling disorders. It is most commonly used to treat the debilitating symptoms of Parkinsons disease. Deep brain stimulation uses an electrode surgically implanted into part of the brain. The electrodes are connected under the skin to ...
Severe forms of hypophosphatasia affect an estimated 1 in 100,000 newborns. Milder cases, such as those that appear in childhood or adulthood, probably occur more frequently. Hypophosphatasia has been reported worldwide in people of various ethnic backgrounds. This condition appears to be most common in white populati...
Key Points - There is no standard staging system for hairy cell leukemia. There is no standard staging system for hairy cell leukemia. Staging is the process used to find out how far the cancer has spread. Groups are used in p...
These resources address the diagnosis or management of trisomy 13: - Genetic Testing Registry: Complete trisomy 13 syndrome - MedlinePlus Encyclopedia: Trisomy 13 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ...
Salmonella is the name of a group of bacteria. In the United States, it is a common cause of foodborne illness. Salmonella occurs in raw poultry, eggs, beef, and sometimes on unwashed fruit and vegetables. You also can get infected after handling pets, especially reptiles like snakes, turtles, and lizards. Symptoms ...
This condition occurs in about 1 in 1,000 newborn girls. Five to 10 girls with triple X syndrome are born in the United States each day.
Paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes periods of involuntary movement. Common symptoms include 1 to 4 hour long episodes of irregular, jerking or shaking movements, prolonged contraction of muscles, chorea, and/or writhing movements of the limb. The movements may have no k...
X-linked intellectual disability, Siderius type is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed. Individuals with X-linked intellectual disability, Siderius ty...
How might pyruvate dehydrogenase deficiency be treated? Treatment of pyruvate dehydrogenase (PDH) deficiency rarely influences the course of the disease, but goals include stimulating the pyruvate dehydrogenase complex (PDHC), providing alternative sources of energy, and preventing immediate, acute worsening of the con...
The septum pellucidum (SP) is a thin membrane located at the midline of the brain between the two cerebral hemispheres, or halves of the brain.. It is connected to the corpus callosum -- a collection of nerve fibers that connect the cerebral hemispherers. This rare abnormality accompanies various malformations of the b...
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.
Preeclampsia is a common condition in all populations, occurring in 2 to 8 percent of pregnancies. It occurs more frequently in women of African or Hispanic descent than it does in women of European descent.
Summary : Sexuality is a big part of being human. Love, affection and sexual intimacy all play a role in healthy relationships. They also contribute to your sense of well-being. A number of disorders can affect the ability to have or enjoy sex in both men and women. Factors that can affect sexual health include ...
When a child with VUR gets a UTI, bacteria can move into the kidney and lead to scarring. Scarring of the kidney can be associated with high blood pressure and kidney failure. However, most children with VUR who get a UTI recover without long-term complications.
Rheumatoid arthritis is an inflammatory disease that causes pain, swelling, stiffness, and loss of function in the joints. It can cause mild to severe symptoms. People with rheumatoid arthritis may feel sick, tired, and sometimes feverish. Sometimes rheumatoid arthritis attacks tissue in the skin, lungs, eyes, and bloo...
Most cases of systemic scleroderma are sporadic, which means they occur in people with no history of the condition in their family. However, some people with systemic scleroderma have close relatives with other autoimmune disorders. A small percentage of all cases of systemic scleroderma have been reported to run in f...
Mucolipidosis III gamma is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide.
How might Kawasaki disease be treated? Intravenous gamma globulin is the standard treatment for Kawasaki disease and is administered in high doses. Children with Kawasaki disease usually greatly improve within 24 hours of treatment with IV gamma globulin. Aspirin is often given in combination with the IV gamma globulin...
Major Signs and Symptoms The main sign of heart valve disease is an unusual heartbeat sound called a heart murmur. Your doctor can hear a heart murmur with a stethoscope. However, many people have heart murmurs without having heart valve disease or any other heart problems. Others may ...
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.
Senior-Lken syndrome is a rare disorder, with an estimated prevalence of about 1 in 1 million people worldwide. Only a few families with the condition have been described in the medical literature.
The prevalence of CHST3-related skeletal dysplasia is unknown. More than 30 affected individuals have been reported.
Muscle eye brain disease is a rare form of congenital muscular dystrophy. Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability. People with muscle eye brain disease fr...
These resources address the diagnosis or management of Bart-Pumphrey syndrome: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratoderma - Genetic Testing Registry: Knuckle pads, deafness AND leukonychia syndrome These resources from MedlinePlus offer information about the diagnosis and managemen...
Mitochondrial complex III deficiency is usually 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 t...
Idiopathic neutropenia is an acquired form of severe chronic neutropenia whose cause is unknown. Neutropenia is a blood condition that causes a reduced number or complete absence of neutrophils, a type of white blood cell that is responsible for much of the body's protection against infection. Symptoms include fever, m...
Throat cancer is a type of head and neck cancer. Throat cancer has different names, depending on what part of the throat is affected. The different parts of the throat are called the oropharynx, the hypopharynx, and the nasopharynx. Sometimes the larynx, or voice box, is also included. The main risk factors for thro...
Summary : A bioterrorism attack is the deliberate release of viruses, bacteria, or other germs to cause illness or death. These germs are often found in nature. But they can sometimes be made more harmful by increasing their ability to cause disease, spread, or resist medical treatment. Biological agents spread thro...
How might pachygyria be treated? Because the symptoms of the condition vary from person to person, treatment is symptomatic, and may include anti-seizure medication, such as Trileptal, and special or supplemental education consisting of physical, occupational, and speech therapies.
Primary hyperparathyroidism is a disorder of the parathyroid glands, also called parathyroids. Primary means this disorder originates in the parathyroid glands. In primary hyperparathyroidism, one or more of the parathyroid glands are overactive. As a result, the gland releases too much parathyroid hormone (PTH). The d...
Infantile neuroaxonal dystrophy is a very rare disorder. Its specific incidence is unknown.
Knee replacement is surgery for people with severe knee damage. Knee replacement can relieve pain and allow you to be more active. Your doctor may recommend it if you have knee pain and medicine and other treatments are not helping you anymore. When you have a total knee replacement, the surgeon removes damaged cart...
Seizures in Dravet syndrome are difficult to control, but can be reduced by anticonvulsant drugs. A ketogenic diet, high in fats and low in carbohydrates, also may be beneficial.
Atherosclerosis, also known as hardening of the arteries, is the most common blood vessel disease. It is caused by the buildup of fatty deposits in the arteries, and is a risk factor for stroke.
This condition 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 do not show signs and symptoms of the condition. Although people wh...
Summary : Playing in the water - whether swimming, boating or diving - can be fun. It can also be dangerous, especially for children. Being safe can help prevent injuries and drowning. To stay safe in the water - Avoid alcohol when swimming or boating - Wear a life jacket whenever you're in a boat - Don't s...
Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels ar...
These resources address the diagnosis or management of vitelliform macular dystrophy: - Gene Review: Gene Review: Best Vitelliform Macular Dystrophy - Genetic Testing Registry: Macular dystrophy, vitelliform, adult-onset - Genetic Testing Registry: Vitelliform dystrophy - MedlinePlus Encyclopedia: Macula (image) ...
Currently there is no known cure for Kennedy's disease. Treatment is symptomatic and supportive. Physical therapy and rehabilitation to slow muscle weakness and atrophy may prove helpful.
How is thalassemia inherited? In general, thalassemia is inherited in an autosomal recessive manner; however, the inheritance can be quite complex as multiple genes can influence the production of hemoglobin. Most people affected by beta thalassemia have mutations in both copies of the HBB gene in each cell. The parent...
Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured). The signs of juvenile Paget disease appear in infancy or early childhood. As bones grow, they become progressively weaker and more deformed. These abnormalities usu...
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.
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.
Another substance that can contribute to lung cancer is asbestos. Asbestos is used in shipbuilding, asbestos mining and manufacturing, insulation work, and brake repair, but many products that contain asbestos have been phased out over the past several decades. If inhaled, asbestos particles can lodge in the lungs, dam...
The most common cause of hemolytic uremic syndrome in children is an Escherichia coli (E. coli) infection of the digestive system. The digestive system is made up of the gastrointestinal, or GI, tracta series of hollow organs joined in a long, twisting tube from the mouth to the anusand other organs that help the body ...
How is hereditary fructose intolerance (HFI) treated? Complete elimination of fructose and sucrose from the diet is an effective treatment for most people, although this can be challenging. More information on treatment for HFI is available from the HFI Laboratory at Boston University at the following link. This page i...
Mutations in at least two genes on the X chromosome are thought to be responsible for Lenz microphthalmia syndrome. Only one of these genes, BCOR, has been identified. The BCOR gene provides instructions for making a protein called the BCL6 corepressor. This protein helps regulate the activity of other genes. Little i...
Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This h...