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Arts syndrome appears to be extremely rare. Only a few families with this disorder have been described in the medical literature.
Sjogren's syndrome is a disease that causes dryness in your mouth and eyes. It can also lead to dryness in other places that need moisture, such as your nose, throat and skin. Most people who get Sjogren's syndrome are older than 40. Nine of 10 are women. Sjogren's syndrome is sometimes linked to rheumatic problems suc...
Early identification of and treatment for individuals with neuroleptic malignant syndrome improves outcome. If clinically indicated, a low potency neuroleptic can be reintroduced very slowly when the individual recovers, although there is a risk that the syndrome might recur. Another alternative is to substitute anothe...
A leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain. The white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. Myelin is needed to p...
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.
Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes invo...
Signs of non-small cell lung cancer include a cough that doesn't go away and shortness of breath. Sometimes lung cancer does not cause any signs or symptoms. It may be found during a chest x-ray done for another condition. Signs and symptoms may be caused by lung cancer or by other conditions. Check with your doctor if...
Ghosal hematodiaphyseal dysplasia results from mutations in the TBXAS1 gene. This gene provides instructions for making an enzyme called thromboxane A synthase 1, which acts as part of a chemical signaling pathway involved in normal blood clotting (hemostasis). Based on its role in Ghosal hematodiaphyseal dysplasia, re...
Lattice corneal dystrophy type I is one of the most common disorders in a group of conditions that are characterized by protein deposits in the cornea (corneal dystrophies); however, it is still a rare condition. The prevalence of lattice corneal dystrophy type I is unknown.
The National Institute of Neurological Disorders and Stroke, a unit of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, is the nations leading federal funder of research on disorders of the brain and nervous system. The NINDS sponsors research on tremor both at its facili...
Wolfram syndrome, which is also known by the acronym DIDMOAD, is an inherited condition characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), and deafness (D). There are two types of Wolfram syndrome (type 1 and type 2) which are primari...
What causes multifocal choroiditis? Multifocal choroiditis occurs spontaneously and the cause is not currently known (idiopathic). It is possible that a bacterial or viral infection may trigger an immune response that causes the inflammation seen with MFC, though more research is needed in this area.
These resources address the diagnosis or management of Greenberg dysplasia: - Genetic Testing Registry: Greenberg dysplasia - Lurie Children's Hospital of Chicago: Fetal Skeletal Dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnost...
How might punctate palmoplantar keratoderma type 1 be treated? Treatment options for this condition generally include topical salicylic acid, mechanical debridement, excision, and systemic retinoids. These therapies can lead to a temporary decrease in skin thickness and softening of the skin. Unfortunately, in many cas...
If you have chronic hepatitis C, you should do things to take care of yourself, including eating a healthy diet. Avoid drinking alcohol, which can harm the liver. Talk with your doctor before taking vitamins and other supplements.
Summary : Normally, if you get hurt, your body forms a blood clot to stop the bleeding. Some people get too many clots or their blood clots abnormally. Many conditions can cause the blood to clot too much or prevent blood clots from dissolving properly. Risk factors for excessive blood clotting include - Certa...
What causes chromosome 4q deletion? People with chromosome 4q deletion are missing genetic material located on the long arm (q) of chromosome 4 in each cell. Scientists suspect that many of the features seen in people affected by this condition are caused by the deletion and/or disruption of certain genes found on 4q. ...
How might acquired pure red cell aplasia be treated? The main goals of treatment for pure red cell aplasia (PRCA) are to restore the production of red blood cells, maintain adequate hemoglobin levels, and treat underlying disorders that may be causing the condition. The initial treatment plan typically includes blood t...
What symptoms are associated with granuloma annulare? People with this condition usually notice a ring of small, firm bumps (papules) over the backs of the forearms, hands or feet. Occasionally, multiple rings may be found. Rarely, granuloma annulare may appear as a firm nodule under the skin of the arms or legs.
DICER1 syndrome is a rare condition; its prevalence is unknown.
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. NINDS researchers are working to identify signaling pathways in the nervous system, with the hope...
Each form of porphyria results from mutations in one of these genes: ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, or UROS. The genes related to porphyria provide instructions for making the enzymes needed to produce heme. Mutations in most of these genes reduce enzyme activity, which limits the amount of heme the body c...
Normally, if you get hurt, your body forms a blood clot to stop the bleeding. For blood to clot, your body needs cells called platelets and proteins known as clotting factors. If you have a bleeding disorder, you either do not have enough platelets or clotting factors or they don't work the way they should. Bleedin...
Stiff person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. Symptoms may include muscle stiffness in the trunk and limbs, and heightened sensitivity to noise, touch, and emotional distress, which can set off muscle spasms. Affected people may also have abnormal postures, such as ...
How is nephrogenic diabetes insipidus inherited? When nephrogenic diabetes insipidus results from mutations in the AVPR2 gene, the condition has an X-linked recessive pattern of inheritance. The AVPR2 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome)...
A hernia happens when part of an internal organ or tissue bulges through a weak area of muscle. Most hernias are in the abdomen. There are several types of hernias, including - Inguinal, in the groin. This is the the most common type. - Umbilical, around the belly button - Incisional, through a scar ...
Signs and symptoms of childhood CNS germ cell tumors include unusual thirst, frequent urination, early puberty, or vision changes. Signs and symptoms depend on the following: - Where the tumor has formed. - The size of the tumor. - Whether the tumor makes hormones. Signs and symptoms may be caused ...
Encephalitis is an inflammation of the brain. Usually the cause is a viral infection, but bacteria can also cause it. It can be mild or severe. Most cases are mild. You may have flu-like symptoms. With a mild case, you may just need rest, plenty of fluids, and a pain reliever. Severe cases need immediate treatment. ...
MMPSI is a rare condition. Although its prevalence is unknown, approximately 100 cases have been described in the medical literature.
Syndrome of inappropriate antidiuretic hormone (SIADH) occurs when an excessive amount of antidiuretic hormone is released resulting in water retention and a low sodium level. It is most common among older people. It has many causes including, but not limited too, pain, stress, exercise, a low blood sugar level, certai...
Pain is a feeling set off in the nervous system. Acute pain lets you know that you may be injured or have a problem you need to take care of. Chronic pain is different. The pain signals go on for weeks, months, or even years. The original cause may have been an injury or infection. There may be an ongoing cause of pain...
Schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. Affected people may also hav...
When a person has diverticula that do not cause diverticulitis or diverticular bleeding, the condition is called diverticulosis. Most people with diverticulosis do not have symptoms. Some people with diverticulosis have constipation or diarrhea. People may also have chronic - cramping or pain in the lo...
Familial progressive cardiac conduction defect (PCCD) is a is a cardiac (heart) conduction disorder that may progress to complete heart block. Affected people may not have any symptoms, or the condition may cause shortness of breath, dizziness, fainting, abdominal pain, heart failure, or sudden death. Mutations in seve...
Is genetic testing available for nephrogenic diabetes insipidus? Yes. GeneTests lists laboratories offering clinical genetic testing for both X-linked and autosomal types of nephrogenic diabetes insipidus. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical c...
Paroxysmal choreoathetosis is a movement disorder characterized by episodes or attacks of involuntary movements of the limbs, trunk, and facial muscles. The disorder may occur in several members of a family, or in only a single family member. Prior to an attack some individuals experience tightening of muscles or other...
Summary : Hormones are your body's chemical messengers. They travel in your bloodstream to tissues or organs. They work slowly, over time, and affect many different processes, including - Growth and development - Metabolism - how your body gets energy from the foods you eat - Sexual function - Reproduc...
Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect Hispanic Americans.
Floating-Harbor syndrome is a genetic disorder that was named for the first two identified patients who were seen at Boston Floating Hospital and Harbor General Hospital in California. The main characteristics of this syndrome are short stature, delayed bone growth, delay in expressive language, and distinct facial fea...
How might alpha-thalassemia be treated? Treatment of alpha-thalassemia often includes blood transfusions to provide healthy blood cells that have normal hemoglobin. Bone marrow transplant has helped to cure a small number of individuals with severe alpha-thalassemia.
What causes reticulohistiocytoma? While it is known that reticulohistiocytoma (RH) develop due to a rapid production of immune cells (histiocytes) in the skin or soft tissues, the cause of this process is not currently known.
These resources address the diagnosis or management of Holt-Oram syndrome: - Gene Review: Gene Review: Holt-Oram Syndrome - Genetic Testing Registry: Holt-Oram syndrome - MedlinePlus Encyclopedia: Atrial Septal Defect - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities - MedlinePlus Encyclopedia: Ventricular S...
Dystonia 6 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 6 can appear at any age from childhood through adulthood; the average age of onset is 18. The s...
How might a preauricular sinus be treated? The majority of preauricular sinuses do not cause symptoms or problems unless they become infected. Common signs of infection include swelling, redness, fluid drainage, and pain. In these cases, treatment typically includes systemic antibiotics. If an abscess is present, it wi...
Coats disease is an eye disorder characterized by abnormal development of the blood vessels in the retina (retinal telangiectasia). Most affected people begin showing symptoms of the condition in childhood. Early signs and symptoms vary but may include vision loss, crossed eyes (strabismus), and a white mass in the pup...
These resources address the diagnosis or management of Poland syndrome: - Children's Medical Center of Dallas - Great Ormond Street Hospital (UK): Treatment Options for Symbrachydactyly - St. Louis Children's Hospital: Chest Wall Deformities These resources from MedlinePlus offer information about the diagnosis an...
Hirschsprung* disease (HD) is a disease of the large intestine that causes severe constipation or intestinal obstruction. Constipation means stool moves through the intestines slower than usual. Bowel movements occur less often than normal and stools are difficult to pass. Some children with HD cant pass stool at all, ...
You can't prevent inherited types of cardiomyopathy. However, you can take steps to lower your risk for diseases or conditions that may lead to or complicate cardiomyopathy. Examples includecoronary heart disease,high blood pressure, andheart attack. Your doctor may advise you to make heart-healthy lif...
Summary : Critical care helps people with life-threatening injuries and illnesses. It might treat problems such as complications from surgery, accidents, infections, and severe breathing problems. It involves close, constant attention by a team of specially-trained health care providers. Critical care usually takes pla...
Symptoms of foodborne illnesses depend on the cause. Common symptoms of many foodborne illnesses include - vomiting - diarrhea or bloody diarrhea - abdominal pain - fever - chills Symptoms can range from mild to serious and can last from a few hours to several days. ...
Researchers have not found a way to prevent IgA nephropathy. People with a family history of IgA nephropathy should talk with their health care provider to find out what steps they can take to keep their kidneys healthy, such as controlling their blood pressure and keeping their blood cholesterol at healthy levels.
Timothy syndrome is a type of long QT syndrome. It affects many parts of the body including the heart, fingers, toes, face, and the nervous system. It is characterized by long QT syndrome, although some people with Timothy syndrome also have other heart defects that affect the hearts ability to pump blood effectively. ...
Aniridia 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 approximately two-thirds of cases, an affected person inherits the mutation from one affected parent. The remaining one-third of cases result from new mutations in the g...
These resources address the diagnosis or management of cartilage-hair hypoplasia: - Gene Review: Gene Review: Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders - Genetic Testing Registry: Metaphyseal chondrodysplasia, McKusick type These resources from MedlinePlus offer information about the diagno...
What are the signs and symptoms of Familial avascular necrosis of the femoral head? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial avascular necrosis of the femoral head. If the information is available, the table below includes how often the symptom is seen in people with t...
These resources address the diagnosis or management of dihydrolipoamide dehydrogenase deficiency: - Gene Review: Gene Review: Dihydrolipoamide Dehydrogenase Deficiency - Genetic Testing Registry: Maple syrup urine disease, type 3 These resources from MedlinePlus offer information about the diagnosis and management ...
Cancers that are known collectively as head and neck cancers usually begin in the squamous cells that line the moist, mucosal surfaces inside the head and neck (for example, inside the mouth, the nose, and the throat). These squamous cell cancers are often referred to as squamous cell carcinomas of the head and neck. A...
How is cleidocranial dysplasia inherited? Cleidocranial dysplasia is inherited in an autosomal dominant manner, 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 de novo...
Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. Us...
Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this ...
Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on t...
How might osteochondritis dissecans be treated? The primary aim of treatment for osteochondritis dissecans is to restore normal function of the affected joint, relieve pain and prevent osteoarthritis. Treatment for the condition varies depending on many factors including the age of the affected person and the severity ...
People at risk for cough include those who: Are exposed to things that irritate their airways (called irritants) or things that they're allergic to (called allergens). Examples of irritants are cigarette smoke, air pollution, paint fumes, and scented products. Examples of allergens are dust, animal dan...
Amyloidosis is a group of diseases in which a protein, called amyloid, builds up in the body's organs and tissues. Amyloidosis AA is also referred to as Secondary amyloidosis or Inflammatory amyloidosis. This disease is caused by a long-lasting infection or inflammatory disease such as rheumatoid arthritis, familial Me...
For most people CMV infection is not a problem. However, two groups of people are at high risk of neurological or other severe symptoms that may lead to long-term effects: - Unborn infants whose mothers have CMV infection. CMVis the most common congenital infection in the U.S. Most infants will have no...
Too much glucose in the blood for a long time can cause diabetes problems. This high blood glucose, also called blood sugar, can damage many parts of the body, such as the heart, blood vessels, eyes, and kidneys. Heart and blood vessel disease can lead to heart attacks and strokes, the leading causes of death for peopl...
Translational research grows out of basic research. It creates new medicines, devices, or behavioral interventions aimed at preventing, diagnosing, or treating a disease. An important goal of Alzheimers translational research is to increase the number and variety of potential new medicines and other interventions that ...
The inherited form of factor X deficiency, known as congenital factor X deficiency, is caused by mutations in the F10 gene, which provides instructions for making a protein called coagulation factor X. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood...
Is radiation therapy a recommended treatment for microcystic adnexal carcinoma? Unfortunately, because microcystic adnexal carcinoma is a rare cancer, there is currently not enough information to determine if radiation therapy is an effective treatment for this disease. There are no guidelines for the use of radiation...
There are four common types of leukemia. They are chronic lymphocytic leukemia, chronic myeloid leukemia, acute myeloid leukemia, and acute lymphocytic leukemia. Chronic lymphocytic leukemia, chronic myeloid leukemia, and acute myeloid leukemia are diagnosed more often in older adults. Acute lymphocytic leukemia is fou...
Holt-Oram syndrome is a genetic condition characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. Affected people have at least one bone abnormality in the wrist, many of which can be detected only by X-ray. Additional skeletal abnormalities may also be present. About 75% of affe...
Benign hereditary chorea (BHC) is a rare movement disorder that begins in infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky mus...
What causes Madelung disease? The exact underlying cause of Madelung disease remains unknown, but several theories have been proposed. The body's inability to properly metabolize fat in affected people suggests that Madelung disease may be an endocrine disorder. An enzyme defect or a change in the surface of cells coul...
Intellectual disability-developmental delay-contractures syndrome is a rare, slowly progressive genetic disorder that is present at birth. It is characterized by contractures of the joints of the feet (arthrogryposis multiplex congenita), muscle degeneration (atrophy), mild intellectual disability and an impaired abili...
Fraser syndrome affects an estimated 1 in 200,000 newborns. The condition occurs in approximately 1 in 10,000 fetuses that do not survive to birth.
These resources address the diagnosis or management of pseudoachondroplasia: - Gene Review: Gene Review: Pseudoachondroplasia - Genetic Testing Registry: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various healt...
The prevalence of hereditary cerebral amyloid angiopathy is unknown. The Dutch type is the most common, with over 200 affected individuals reported in the scientific literature.
The NINDS supports research on neuromuscular disorders such as LEMS with the ultimate goal of finding ways to treat, prevent, and cure them.
What causes Troyer syndrome? Troyer syndrome is caused by mutations in the SPG20 gene. This gene gives the body instructions to make a protein called spartin, which is present in many body tissues, including those of the nervous system. However, the function of this protein is not fully understood. It is thought to pla...
The prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 7 likely accounts for only a small percentage of all spastic paraplegia cases.
Patients with glomerular disease have significant amounts of protein in the urine, which may be referred to as "nephrotic range" if levels are very high. Red blood cells in the urine are a frequent finding as well, particularly in some forms of glomerular disease. Urinalysis provides information about kidney damage by ...
Syndromic microphthalmia, type 3 is a rare condition that affects the eyes and other parts of the body. Babies with this condition are generally born without eyeballs (anophthalmia) or with eyes that are unusually small (microphthalmia). Both of these abnormalities can be associated with severe vision loss. Other signs...
How might Ehlers-Danlos syndrome progeroid type be treated? Individuals with Ehlers-Danlos Syndrome progeroid type can benefit from a variety of treatments depending on their symptoms. Affected children with weak muscle tone and delayed development might benefit from physiotherapy to improve muscle strength and coordin...
The prevalence of this condition is unknown. Only a few affected individuals have been described in the medical literature.
Long QT syndrome is a disorder of the hearts electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmia), which may lead to sudden death. Long QT syndrome can be detected by electrocardiogram (EKG). It can be caused by a variety of different gene mutations (changes). It can also be ...
Acromicric dysplasia is a rare disorder; its prevalence is unknown.
Fifth disease is a viral infection caused by parvovirus B19. The virus only infects humans; it's not the same parvovirus that dogs and cats can get. Fifth disease mostly affects children. Symptoms can include a low fever, cold symptoms, and a headache. Then you get a red rash on your face. It looks like a "slapped chee...
These resources address the diagnosis or management of complement component 2 deficiency: - Genetic Testing Registry: Complement component 2 deficiency - MedlinePlus Encyclopedia: Complement - MedlinePlus Encyclopedia: Immunodeficiency Disorders - Primary Immune Deficiency Treatment Consortium These resources fro...
Signs and symptoms of chronic myelogenous leukemia include fever, night sweats, and tiredness. These and other signs and symptoms may be caused by CML or by other conditions. Check with your doctor if you have any of the following: - Feeling very tired. - Weight loss for no known reason. - Night sweats. ...
How might chromosome 3p- syndrome be treated? Because chromosome 3p- syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, ...
Hereditary cerebral amyloid angiopathy caused by mutations in the APP, CST3, or ITM2B gene is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. There is also a non-hereditary form of cerebral amyloid angiopathy that occurs in people w...
Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fr...
Benign chronic pemphigus is a rare condition; its prevalence is unknown.
Mutations in the GLB1 gene cause GM1 gangliosidosis. The GLB1 gene provides instructions for making an enzyme called beta-galactosidase (-galactosidase), which plays a critical role in the brain. This enzyme is located in lysosomes, which are compartments within cells that break down and recycle different types of mole...
Cholesterol is a waxy, fat-like substance that your liver makes. It is also found in some foods that come from animals.
These resources address the diagnosis or management of HGPPS: - Genetic Testing Registry: Gaze palsy, familial horizontal, with progressive scoliosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and ...
What causes GM1 gangliosidosis? All three types of GM1 gangliosidosis are caused by mutations (changes) in the GLB1 gene. This gene gives the body instructions to make an enzyme called beta-galactosidase (-galactosidase), which plays an important role in the brain. The enzyme resides in compartments within cells called...
How might cryptogenic organizing pneumonia be treated? The treatment of cryptogenic organizing pneumonia (COP) generally depends on the severity of the condition. For example, people who are mildly affected may simply be monitored as some cases can improve on their own. Unfortunately, the majority of people with COP ha...
Autoimmune hemolytic anemia (AIHA) occurs when your immune system makes antibodies that attack your red blood cells. This causes a drop in the number of red blood cells, leading to hemolytic anemia. Symptoms may include unusual weakness and fatigue with tachycardia and breathing difficulties, jaundice, dark urine and/o...
Alpers-Huttenlocher syndrome is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells c...