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Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis- an area of the brain that controls balance and coordination -- as well as a malformed brain stem (molar tooth sign). The most common features of Joubert syndrome in infants include abnormally rapid b...
Williams syndrome affects an estimated 1 in 7,500 to 10,000 people.
Summary : Medicines cure infectious diseases, prevent problems from chronic diseases, and ease pain. But medicines can also cause harmful reactions if not used correctly. Errors can happen in the hospital, at the doctor's office, at the pharmacy, or at home. You can help prevent errors by - Knowing your medicines...
Asthma affects people of all ages, but it most often starts during childhood. In the United States, more than 22 million people are known to have asthma. Nearly 6 million of these people are children. Young children who often wheeze and have respiratory infectionsas well as certain other risk factorsar...
Your peripheral nerves are the ones outside your brain and spinal cord. Like static on a telephone line, peripheral nerve disorders distort or interrupt the messages between the brain and the rest of the body. There are more than 100 kinds of peripheral nerve disorders. They can affect one nerve or many nerves. Som...
Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Kidney disease typically begins in the first few months of life, often leading to kidney failure in childhood. In addition, up to 90 percent of people with this condition develop a rare form of kidney cancer known as Wilms tumor. Males with Den...
Summary : Anabolic steroids are man-made substances related to male sex hormones. Doctors use anabolic steroids to treat some hormone problems in men, delayed puberty, and muscle loss from some diseases. Bodybuilders and athletes often use anabolic steroids to build muscles and improve athletic performance. Using th...
Is chronic progressive external ophthalmoplegia inherited? Chronic progressive external ophthalmoplegia (CPEO) can be inherited, or it can occur sporadically (due to a new mutation in an individual with no history of the condition in the family). CPEO is considered a "mitochondrial disorder." This is because all the ge...
Cystic echinococcosis is controlled by preventing transmission of the parasite. Prevention measures include limiting the areas where dogs are allowed and preventing animals from consuming meat infected with cysts. - Prevent dogs from feeding on the carcasses of infected sheep. - Control stray dog populat...
What are the signs and symptoms of Diamond-Blackfan anemia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Diamond-Blackfan anemia 3. 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 M...
Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications. There are at least three forms of achondr...
These resources address the diagnosis or management of potassium-aggravated myotonia: - Genetic Testing Registry: Potassium aggravated myotonia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabi...
These resources address the diagnosis or management of lymphedema-distichiasis syndrome: - Gene Review: Gene Review: Lymphedema-Distichiasis Syndrome - Genetic Testing Registry: Distichiasis-lymphedema syndrome - MedlinePlus Encyclopedia: Lymph System These resources from MedlinePlus offer information about the di...
- Proteinuria is a condition in which urine contains a detectable amount of protein. - Proteinuria is a sign of chronic kidney disease (CKD). - Groups at risk for proteinuria include African Americans, American Indians, Hispanics/Latinos, Pacific Islander Americans, older people, overweight people, people with diabet...
Alagille syndrome is a genetic condition that results in various symptoms in different parts of the body, including the liver. A person with Alagille syndrome has fewer than the normal number of small bile ducts inside the liver. The liver is the organ in the abdomenthe area between the chest and hipsthat makes blood p...
Chronic kidney disease causes mineral and bone disorder because the kidneys do not properly balance the mineral levels in the body. The kidneys - stop activating calcitriol. The low levels of calcitriol in the body create an imbalance of calcium in the blood. - do not remove the phosphorus in the bloo...
CHMP2B-related frontotemporal dementia has been reported in one large family in Denmark and a few unrelated individuals from other countries. This disease appears to be a rare form of frontotemporal dementia.
In addition to proteinuria, hyperlipidemia, edema, and hypoalbumina, people with nephrotic syndrome may experience - weight gain - fatigue - foamy urine - loss of appetite
Many medications are used to manage heart failure. They include diuretics, ACE inhibitors, beta blockers and digoxin. Diuretics are used to reduce fluid buildup. ACE inhibitors work to improve heart failure in many ways, including lowering blood pressure. Beta blockers can also improve heart failure in many ways, inclu...
N-acetylglutamate synthase deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may ...
How might nevoid basal cell carcinoma syndrome be treated? The features of nevoid basal cell carcinoma syndrome (NBCCS) should be evaluated and treated by specialists who are experienced with the condition (such as oral surgeons, dermatologists, plastic surgeons, and medical geneticists). If a medulloblastoma is detect...
Major Signs and Symptoms One of the main symptoms during the early part of Kawasaki disease, called the acute phase, is fever. The fever lasts longer than 5 days. It remains high even after treatment with standard childhood fever medicines. Other classic signs of the disease are: ...
Genetic changes in one of several genes are involved in the formation of GISTs. About 80 percent of cases are associated with a mutation in the KIT gene, and about 10 percent of cases are associated with a mutation in the PDGFRA gene. Mutations in the KIT and PDGFRA genes are associated with both familial and sporadic ...
Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. Proud syndrome is caused by changes (mutation...
Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine. Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessiv...
Most cases of trisomy 13 are not inherited and result from random events during the formation of eggs and sperm in healthy parents. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosom...
Mutations in the MYCN gene cause Feingold syndrome. This gene provides instructions for making a protein that plays an important role in the formation of tissues and organs during embryonic development. Studies in animals suggest that this protein is necessary for normal development of the limbs, heart, kidneys, nervou...
Contact with livestock with tick exposure are risk factors for humans, as is contact with infected ticks, whether through crushing the infected tick with unprotected fingers or by a bite from an infected tick. Slaughtering of animals which may acutely but asymptomatically infected may also be a risk factor, as it is p...
Generally, long-term antibiotic treatment to destroy the bacteria can relieve symptoms and cure the disease. If left untreated, the disease is progressive and fatal. Individuals with involvement of the central nervous system generally have a worse prognosis and may be left with permanent neurologic disability. Deficits...
How is hydrocephalus due to congenital stenosis of aqueduct of sylvius diagnosed? A diagnosis of hydrocephalus due to congenital stenosis of aqueduct of sylvius is typically suspected based on the presence of characteristic signs and symptoms on physical examination and/or brain imaging (i.e. CT scan, MRI scan). Identi...
The primary genetic cause of PVOD is mutations in the EIF2AK4 gene. Mutations in other genes may cause a small percentage of cases. Other suspected causes of PVOD include viral infection and exposure to toxic chemicals, including certain chemotherapy drugs. The protein produced from the EIF2AK4 gene helps cells respon...
Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predomina...
Coffin-Siris syndrome is caused by mutations in the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Each of these genes provides instructions for making one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling...
Researchers have found mutations in a few genes that are thought to cause Dandy-Walker malformation, but these mutations account for only a small number of cases. Dandy-Walker malformation has also been associated with many chromosomal abnormalities. This condition can be a feature of some conditions in which there is ...
Nonsyndromic paraganglioma can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing a paraganglioma or pheochromocytoma. People with mutations in the gene inherit an increased risk of this condition, not the condition itsel...
Mutations in the DSPP gene have been identified in people with dentinogenesis imperfecta type II and type III. Mutations in this gene are also responsible for dentin dysplasia type II. Dentinogenesis imperfecta type I occurs as part of osteogenesis imperfecta, which is caused by mutations in one of several other genes ...
You might be able to prevent repeat episodes of some types of anemia, especially those caused by lack of iron or vitamins. Dietary changes or supplements can prevent these types of anemia from occurring again. Treating anemia's underlying cause may prevent the condition (or prevent repeat episodes). Fo...
What causes dentatorubral-pallidoluysian atrophy (DRPLA)? DRPLA is caused by a mutation in the ATN1 gene. This gene provides instructions for making a protein called atrophin 1. Although the function of atrophin 1 is unclear, it likely plays an important role in nerve cells (neurons) in many areas of the brain. The ATN...
Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). Spinal and bulbar muscular atrophy mai...
The signs and symptoms of Peyronies disease may include - hard lumps on one or more sides of the penis - pain during sexual intercourse or during an erection - a curve in the penis either with or without an erection - narrowing or shortening of the penis - ED Symptoms of Peyronies ...
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health conduct research related to DLB in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Much of this research focuses on searc...
What are the signs and symptoms of Synovial chondromatosis, familial with dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Synovial chondromatosis, familial with dwarfism. If the information is available, the table below includes how often the symptom is seen in people with t...
What causes cutaneous mastocytosis? Most cases of cutaneous mastocytosis are caused by changes (mutations) in the KIT gene. This gene encodes a protein that helps control many important cellular processes such as cell growth and division; survival; and movement. This protein is also important for the development of cer...
Doctors are not sure what causes diverticular disease. Many think a diet low in fiber is the main cause. Fiber is a part of food that your body cannot digest. It is found in many fruits and vegetables. Fiber stays in the colon and absorbs water, which makes bowel movements easier to pass. Diets low in fiber may cause c...
These resources address the diagnosis or management of spondyloperipheral dysplasia: - Genetic Testing Registry: Spondyloperipheral dysplasia - MedlinePlus Encyclopedia: Nearsightedness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic ...
Are pilocytic astrocytomas inherited? Pilocytic astrocytomas are typically sporadic, occurring by chance in individuals with no history of the condition in the family. Sporadic abnormalities are not inherited from a parent and are not likely to recur in a family. Familial cases of isolated astrocytomas are very rare. A...
This condition is inherited in an X-linked pattern. 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 in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the...
Acute promyelocytic leukemia is not inherited but arises from a translocation in the body's cells that occurs after conception.
Regular health exams and tests can help find problems before they start. They also can help find problems early, when your chances for treatment are better. As a woman, you need some special exams and screenings. During your checkup, your health care provider will usually do: - A pelvic exam - an exam to check if...
Summary : You may only think of tears as those salty drops that fall from your eyes when you cry. Actually, your tears clean your eyes every time you blink. Tears also keep your eyes moist, which is important for your vision. Tear glands produce tears, and tear ducts carry the tears from the glands to the surface of...
Hashimoto thyroiditis affects 1 to 2 percent of people in the United States. It occurs more often in women than in men, which may be related to hormonal factors. The condition is the most common cause of thyroid underactivity (hypothyroidism) in the United States.
- A kidney stone is a solid piece of material that forms in a kidney when substances that are normally found in the urine become highly concentrated. - Kidney stones are one of the most common disorders of the urinary tract. - Certain foods may promote stone formation in people who are susceptible, but scientists do ...
The prevalence of nephrogenic diabetes insipidus is unknown, although the condition is thought to be rare. The acquired form occurs more frequently than the hereditary form.
This condition is not inherited. It arises from a somatic mutation in histiocytes or their precursor cells during an individual's lifetime.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. The most common medical problem it c...
The disorder is characterized by recurrences and remissions, and successive recurrences may incapacitate the patient. Due to the intensity of the pain, even the fear of an impending attack may prevent activity. Trigeminal neuralgia is not fatal.
Is cold agglutinin disease inherited? Cold agglutinin disease is not an inherited condition. It is designated as either primary (unknown cause) or secondary (associated with or caused by another condition). In some cases, cold agglutinin may be multifactorial which means that multiple environmental factors and genes li...
Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (HIBM), GNE-related myopathy, distal myopathy with rimmed vacuoles, and Nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). This disorder is characterized by muscle w...
Wolman disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in the spleen, liver, bone marrow, small intestine, small hormone-producing glands on top of each kidney (adrenal glands), an...
Epidermolytic hyperkeratosis can have different inheritance patterns. About half of the cases of this condition result from new mutations in the KRT1 or KRT10 gene and occur in people with no history of the disorder in their family. When epidermolytic hyperkeratosis is inherited, it is usually in an autosomal dominant...
Striatonigral degeneration is a neurological disorder caused by a disruption in the connection between two areas of the brain-the striatum and the substantia nigra. These two areas work together to enable balance and movement. Striatonigral degeneration is a type of multiple system atrophy (MSA). Symptoms of the disord...
Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abnormalit...
Vasculitis is an inflammation of the blood vessels. It happens when the body's immune system attacks the blood vessel by mistake. It can happen because of an infection, a medicine, or another disease. The cause is often unknown. Vasculitis can affect arteries, veins and capillaries. Arteries are vessels that carry b...
Hepatitis B is called a silent killer because many people have no symptoms, so the disease often progresses unnoticed for years. Unfortunately, many people first learn they have chronic hepatitis B when they develop symptoms of severe liver damage, which include - yellowish eyes and skin, called jaundi...
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...
Hematuria can be caused by menstruation, vigorous exercise, sexual activity, viral illness, trauma, or infection, such as a urinary tract infection (UTI). More serious causes of hematuria include - cancer of the kidney or bladder - inflammation of the kidney, urethra, bladder, or prostatea walnut-shap...
How is erythropoietic protoporphyria (EPP) inherited? EPP is inherited in an autosomal recessive manner. In most cases, affected individuals have one severe (loss-of-function) mutation that is inherited from one parent, and another weak (low-expression) mutation that is inherited from the other parent. In a small numbe...
Pyelonephritis is a type of urinary tract infection (UTI) that affects one or both kidneys.
If a person drinks too much or too often he or she may develop an alcohol use disorder (AUD). An AUD can range in severity from mild to severe. On one end of this spectrum, drinking might cause sickness, depression, or sleeping problems. More severe symptoms include drinking more than intended or craving alcohol once y...
The more likely you are to fall, the higher your risk for a fracture. And more severe falls increase your risk for fractures. Factors that increase your risk of falling and of fracturing a bone include - decreased muscle strength - poor balance - impaired eyesight - impaired mental abilities - certain medication...
Duane syndrome type 3 is a disorder of eye movement. The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most case...
When cancer spreads from its original location in the breast to another part of the body such as the brain, it is called metastatic breast cancer, not brain cancer. Doctors sometimes call this "distant" disease.
The incidence of distal hereditary motor neuropathy, type V is unknown. Only a small number of cases have been reported.
Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized by a short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the...
How is cold agglutinin disease diagnosed? A diagnosis of cold agglutinin disease may be made after several types of tests are performed by a health care provider. In some cases, the diagnosis is first suspected by chance if a routine complete blood count (CBC) detects abnormal clumping (agglutination) of the red blood ...
Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas.Renal cell carcinomas are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney.The term "papillary" describes the finger-like projecti...
These resources address the diagnosis or management of actin-accumulation myopathy: - Genetic Testing Registry: Nemaline myopathy 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - ...
The inheritance pattern of GPA is unknown. Most instances are sporadic and occur in individuals with no history of the disorder in their family. Only rarely is more than one member of the same family affected by the disorder.
Summary : Women have unique health issues. And some of the health issues that affect both men and women can affect women differently. Unique issues include pregnancy, menopause, and conditions of the female organs. Women can have a healthy pregnancy by getting early and regular prenatal care. They should also get re...
Ring chromosome 20 syndrome appears to be a rare condition, although its prevalence is unknown. More than 60 affected individuals have been reported in the medical literature.
Diverticulosis becomes more common as people age, particularly in people older than age 50.3 Some people with diverticulosis develop diverticulitis, and the number of cases is increasing. Although diverticular disease is generally thought to be a condition found in older adults, it is becoming more common in people you...
Acrodysplasia scoliosis is a rare condition that has been reported in two brothers. The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appe...
Certain factors affect prognosis (chance of recovery) and treatment options. Prognosis (chance of recovery) depends on the following: - The stage of the cancer. - Where the tumor is in the lip or oral cavity. - Whether the cancer has spread to blood vessels. For patients who smoke, the chance of re...
Scientists who are working to better understand and treat psoriasis are making headway in several different areas, including the role of T cells, new treatments, psoriasis genes, psoriasis-related conditions, and stress-reduction treatment.
What causes adult-onset Still's disease? The cause of adult-onset Stills disease is unknown. Some hypothesize that the condition results from or is triggered by a virus or other infectious agent. Others believe that it is a hypersensitive or autoimmune disorder. To date, no conclusive evidence has been found to prove o...
These resources address the diagnosis or management of osteoglophonic dysplasia: - Genetic Testing Registry: Osteoglophonic dysplasia - Seattle Children's Hospital: Dwarfism and Bone Dysplasias These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Dia...
ALSP is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells, including glial cells. The CSF-1 receptor triggers signaling pathways that control many import...
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.
Summary : Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts, and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells, and platelets. Red blood cells (RBC) deliver oxygen from your lungs to...
How might adenocarcinoma of the appendix be diagnosed? Adenocarcinoma of the appendix may be identified along with acute appendicitis. Mucinous adenocarcinomas may also be found incidentally as a right sided cystic mass on an imaging study.
How is Tylosis with esophageal cancer inherited? This condition has an autosomal dominant pattern of inheritance, which means that a mutation in one copy of the altered gene in each cell is sufficient to cause the disorder. Affected individuals typically have one parent with the condition.
Frontal fibrosing alopecia (FFA) is a form of lichen planus follicularis that is characterized primarily by slowly progressive hair loss (alopecia) and scarring on the scalp near the forehead. In some cases, the eyebrows, eye lashes and/or other parts of the body may be involved, as well. Although it has been suggested...
Scientists have developed tests to determine the nature and extent of a person's smell disorder. Tests measure the smallest amount of odor patients can detect as well as how accurately a person can identify different smells. An easily administered "scratch and sniff" test allows a person to scratch pieces of paper trea...
DOLK-CDG is caused by mutations in the DOLK gene. This gene provides instructions for making the enzyme dolichol kinase, which facilitates the final step of the production of a compound called dolichol phosphate. This compound is critical for a process called glycosylation, which attaches groups of sugar molecules (oli...
Did You Know: Breast Cancer Statistics? Breast cancer is one of the most common cancers in American women. It is most common among women between the ages of 45-85. Today, more women are surviving breast cancer than ever before. Over two million women are breast cancer survivors. (Watch the video to learn more about bre...
People with acquired cystic kidney disease may develop the following complications: - an infected cyst, which can cause fever and back pain. - blood in the urine, which can signal that a cyst in the kidney is bleeding. - tumors in the kidneys. People with acquired cystic kidney disease are more likel...
Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three dis...
These resources address the diagnosis or management of DOLK-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1M - MedlinePlus Encyclopedia: Dilated Cardiomyopathy These resources from MedlinePlus o...
Mutations in the FH gene cause hereditary leiomyomatosis and renal cell cancer. The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). This enzyme participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use...
The main goal of cholesterol-lowering treatment is to lower your LDL (bad) cholesterol level enough to reduce your risk of having a heart attack or diseases caused by narrowing of the arteries.