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What are the signs and symptoms of Hereditary congenital facial paresis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary congenital facial paresis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can...
What causes brittle diabetes? There are multiple causes of brittle diabetes. Emotional stress seems to play an important role, in some cases leading to hormonal inbalances which can lead to brittle diabetes. Emotional stress can also lead to a shift in the behavior of an individual, leading them to neglect their self-c...
Churg Strauss syndrome is a condition characterized by asthma, high levels of eosinophils (a type of white blood cell that helps fight infection), and inflammation of small to medium sized blood vessels (vasculitis). The inflamed vessels can affect various organ systems including the lungs, gastrointestinal tract, skin...
These resources address the diagnosis or management of small fiber neuropathy: - Genetic Testing Registry: Small fiber neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Ge...
Motion sickness is a common problem in people traveling by car, train, airplanes and especially boats. Motion sickness can start suddenly, with a queasy feeling and cold sweats. It can then lead to dizziness and nausea and vomiting. Your brain senses movement by getting signals from your inner ears, eyes, muscles an...
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.
What are the signs and symptoms of Thyroid hormone plasma membrane transport defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyroid hormone plasma membrane transport defect. If the information is available, the table below includes how often the symptom is seen in people with...
Are there non-genetic causes of paroxysmal nonkinesigenic dyskinesia? Yes. Sporadic (non-genetic) causes of paroxysmal nonkinesigenic dyskinesia have been reported in the literature. Non-genetic causes include lesions of the basal ganglia due to multiple sclerosis, tumors, and vascular lesions. In addition, lesions out...
Citrullinemia type I is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. This condition, also known as classic citrullinemia, belongs to a class of genetic diseases called urea cycle disorders. In most cases, the condition becomes evident in the first few days of life. Af...
These resources address the diagnosis or management of X-linked sideroblastic anemia: - Genetic Testing Registry: Hereditary sideroblastic anemia - MedlinePlus Encyclopedia: Anemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests...
What causes tracheobronchomalacia? The underlying cause of tracheobronchomalacia (TBM) varies by subtype. Most cases of primary TBM (also called congenital TBM) are caused by genetic conditions that weaken the walls of the airway (specifically the trachea and bronchi). For example, TBM has been reported in people with ...
Lysinuric protein intolerance is a metabolic disorder caused by the body's inability to digest and use the amino acids lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting...
Certain factors affect prognosis (chance of recovery) and treatment options. Prognosis (chance of recovery) depends on the following: - The stage of the cancer (whether it affects part of the hypopharynx, involves the whole hypopharynx, or has spread to other places in the body). Hypopharyngeal cancer is usuall...
Yersiniosis is an infectious disease caused by a bacterium of the genus Yersinia. In the United States, most human illness is caused by one species, Y. enterocolitica. Infection with Y. enterocolitica can cause a variety of symptoms depending on the age of the person infected. Infection with Y. enterocolitica occurs mo...
Who might consider genetic carrier testing for a family history of metachromatic leukodystrophy? If someone has a family history of metachromatic leukodystrophy (MLD) or someone is known to be a carrier for MLD, individuals who are biologically related to the affected individual or carrier are at risk to be a carrier. ...
These resources address the diagnosis or management of Pendred syndrome: - Children's Hospital of Philadelphia, Center for Childhood Communication - Gene Review: Gene Review: Pendred Syndrome/DFNB4 - Genetic Testing Registry: Pendred's syndrome - MedlinePlus Encyclopedia: Goiter - MedlinePlus Encyclopedia: Hearing...
Preauricular sinus is a common birth defect that may be seen during a routine exam of a newborn. It generally appears as a tiny skin-lined hole or pit, often just in front of the upper ear where the cartilage of the ear rim meets the face. It may occur on one side (unilateral) or both sides (bilateral) of the ear. Affe...
The estimated incidence of Jacobsen syndrome is 1 in 100,000 newborns. More than 200 affected individuals have been reported.
Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the ches...
The exact incidence of 3-hydroxyacyl-CoA dehydrogenase deficiency is unknown; it has been reported in only a small number of people worldwide.
Summary : A nursing home is a place for people who don't need to be in a hospital but can't be cared for at home. Most nursing homes have nursing aides and skilled nurses on hand 24 hours a day. Some nursing homes are set up like a hospital. The staff provides medical care, as well as physical, speech and occupatio...
How might disseminated peritoneal leiomyomatosis (DPL) be treated? Presently there are no treatment guidelines for disseminated peritoneal leiomyomatosis (DPL). DPL is considered a benign condition and some cases of DPL resolve after the baby is delivered (if pregnant), hormone treatment is stopped (including both birt...
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.
Yes. Smoking is the leading cause of cancer in the United States, and it increases the risk of many types of cancer, including - lung cancer - throat cancer - mouth cancer - nasal cavity cancer (cancer in the airways of the nose) - esophageal cancer (cancer of the esophagus) - stomach cancer - pancreatic canc...
Pilomatrixoma is a benign (non-cancerous) skin tumor of the hair follicle (structure in the skin that makes hair). They tend to develop in the head and neck area and are usually not associated with any other signs and symptoms (isolated). Rarely, pilomatrixomas can become cancerous (known as a pilomatrix carcinoma). Al...
What are the signs and symptoms of Snowflake vitreoretinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Snowflake vitreoretinal degeneration. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can...
Clostridium difficile (C. difficile) is a bacterium that causes diarrhea and more serious intestinal conditions such as colitis. Symptoms include - Watery diarrhea (at least three bowel movements per day for two or more days) - Fever - Loss of appetite - Nausea - Abdominal pain or tenderness ...
Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (CNS). This disorder causes deterioration of white matter, which consists of nerve fibers covered by myelin (the substance that protects the nerves). Most affected people begin to have signs and symp...
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. In most cases, an affected person has one parent with the condition. Occasionally, an individual who has a copy of the altered gene does not show any signs or symptoms...
These resources address the diagnosis or management of familial TAAD: - Gene Review: Gene Review: Thoracic Aortic Aneurysms and Aortic Dissections - Genetic Testing Registry: Aortic aneurysm, familial thoracic 2 - Genetic Testing Registry: Aortic aneurysm, familial thoracic 4 - Genetic Testing Registry: Aortic aneu...
Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but oft...
Hepatitis B may start as a brief, flu-like illness. Most healthy adults and children older than 5 completely recover after the bodys immune system gets rid of the virus. Hepatitis B becomes chronic when the bodys immune system cant get rid of the virus. Over time, having the virus can lead to inflammat...
These resources address the diagnosis or management of cystinuria: - Genetic Testing Registry: Cystinuria - MedlinePlus Encyclopedia: Cystinuria - MedlinePlus Encyclopedia: Cystinuria (image) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag...
Myosin storage myopathy is a rare condition. Its prevalence is unknown.
How might polyembryoma be treated? Because polyembryomas are quite rare, there are no established guidelines for treating this condition. However, the first step for treating a polyembryoma is often surgery to remove as much of the tumor as possible. Chemotherapy, and sometimes radiation therapy, have also been used ...
There is no cure for Alpers' disease and no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures, but at times the seizures do not respond well to therapy, even at high doses. Therefore, the benefit of seizure control should be weights against what coul...
Geographic tongue is a condition that causes chronic and recurrent lesions on the tongue that resemble psoriasis of the skin. It is characterized by pink to red, slightly depressed lesions with irregular, elevated, white or yellow borders. The lesions may also occur in the mucosa of the mouth and labia; this condition ...
This condition is inherited in an autosomal recessive pattern, which means both copies of the SRD5A2 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 pe...
How is Majeed syndrome inherited? Majeed syndrome 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. Although carriers typically do not show signs and...
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 X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. Some ce...
Summary : Food provides the energy and nutrients you need to be healthy. Nutrients include proteins, carbohydrates, fats, vitamins, minerals and water. Studies show that a good diet in your later years reduces your risk of osteoporosis, high blood pressure, heart diseases and certain cancers. As you age, you might ...
People of all ages and races can have cardiomyopathy. However, certain types of the disease are more common in certain groups. Dilated cardiomyopathy is more common in African Americans than Whites. This type of the disease also is more common in men than women. Teens and young adults ...
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The type of cancer cell. - Whether the tumor can be removed completely by surgery. - The patient's general health...
What are the signs and symptoms of Spinal intradural arachnoid cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal intradural arachnoid cysts. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t...
What causes Prinzmetal's variant angina? Prinzmetal's variant angina is caused by coronary artery spasms. A coronary artery spasm is a temporary, abrupt, and focal (restricted to one location) contraction of the muscles in the wall of an artery in the heart. This spasm constricts the artery, slowing or stoping blood fl...
Noonan-like syndrome with loose anagen hair is characterized by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and ...
Klippel-Feil syndrome is estimated to occur in 1 in 40,000 to 42,000 newborns worldwide. Females seem to be affected slightly more often than males.
Rabson-Mendenhall syndrome is estimated to affect less than 1 per million people worldwide. Several dozen cases have been reported in the medical literature.
Camptocormia, camptocormism or "bent spine syndrome," (BSS) is an extreme forward flexion of the thoracolumbar spine, which often worsens during standing or walking, but completely resolves when laying down. The term itself is derived from the Greek "kamptos" (to bend) and "kormos" (trunk) BSS was initially considered,...
No single treatment can cure the neurological complications of AIDS. Some disorders require aggressive therapy while others are treated symptomatically. Medicines range from analgesics sold over the counter to antiepileptic drugs, opiates, corticosteroids, and some classes of antidepressants. Other tre...
Spinocerebellar ataxia 13 (SCA13) is a rare sub-type of spinocerebellar ataxias, a group of neurological conditions characterized by degeneration of the brain and spinal cord. Signs and symptoms of SCA13 appear to vary among affected people and range from childhood-onset, slowly progressive gait ataxia and dysarthria (...
Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of r...
The NINDS conducts and supports a broad range of research on motor neuron diseases. The goals of these studies are to increase understanding of these disorders and to find ways to treat, prevent, and ultimately cure them.
Alopecia areata (AA) is an autoimmune disease in which the immune system mistakenly attacks the hair follicles. In most cases, hair falls out in small, round patches on the scalp. Although uncommon, hair loss can be more extensive in some people and affect other parts of the body. This condition can progress to complet...
What are the signs and symptoms of Anti-plasmin deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Anti-plasmin deficiency, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u...
The exact prevalence of PDGFRB-associated chronic eosinophilic leukemia is unknown. For unknown reasons, males are up to nine times more likely than females to develop PDGFRB-associated chronic eosinophilic leukemia.
Diabetic kidney disease, also called diabetic nephropathy, is kidney disease caused by diabetes. Even when well controlled, diabetes can lead to chronic kidney disease (CKD) and kidney failure, described as end-stage kidney disease or ESRD when treated with a kidney transplant or blood-filtering treatments called dialy...
The most common form of this disorder, ocular albinism type 1, affects at least 1 in 60,000 males. The classic signs and symptoms of this condition are much less common in females.
How does one get cherubism? What causes cherubism? Genetic changes (mutations) in the SH3BP2 gene cause cherubism. About 80 percent of people with cherubism have a mutation in the SH3BP2 gene. In most of the remaining cases, the genetic cause of the condition is unknown.
Clinical trials are research studies on people to find out whether a new drug or treatment is both safe and effective. New therapies are tested on people only after laboratory and animal studies show promising results. The Food and Drug Administration sets strict rules to make sure that people who agree to be in the st...
What are the signs and symptoms of glucose-6-phosphate dehydrogenase (G6PD) deficiency? People with G6PD deficiency do not have signs of the disease unless their red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or to stress. Many people with this condition nev...
Celiac disease tends to cluster in families. Parents, siblings, or children (first-degree relatives) of people with celiac disease have between a 4 and 15 percent chance of developing the disorder. However, the inheritance pattern is unknown.
These resources address the diagnosis or management of autosomal dominant hyper-IgE syndrome: - Gene Review: Gene Review: Autosomal Dominant Hyper IgE Syndrome - Genetic Testing Registry: Hyperimmunoglobulin E syndrome - MedlinePlus Encyclopedia: Hyperimmunoglobulin E syndrome These resources from MedlinePlus offe...
Dry eye symptoms may include any of the following. - stinging or burning of the eye - a sandy or gritty feeling as if something is in the eye - episodes of excess tears following very dry eye periods - a stringy discharge from the eye - pain and redness of the eye - episodes of blurred vision - heavy eyelids...
These resources address the diagnosis or management of Sheldon-Hall syndrome: - Gillette Children's Hospital - NYU Langone Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitat...
A prolactinoma is a benign noncancerous tumor of the pituitary gland that produces a hormone called prolactin. Prolactinomas are the most common type of pituitary tumor. Symptoms of prolactinoma are caused by hyperprolactinemia --- too much prolactin in the blood --- or by pressure of the tumor on surrounding tissues. ...
Y. enterocolitica infections are generally diagnosed by detecting the organism in the stools. Many laboratories do not routinely test for Y. enterocolitica,so it is important to notify laboratory personnel when infection with this bacterium is suspected so that special tests can be done. The organism can also be recove...
ARD is treatable because phytanic acid is not produced by the body, but is only found in foods. With treatment, muscle weakness, numbness, and dry and scaly skin generally disappear. However, vision and hearing problems may persist and the sense of smell may not return. Untreated, ARD can lead to sudden death caused by...
Wolff-Parkinson-White syndrome is a condition that disrupts the heart's normal rhythm (arrhythmia). People with Wolff-Parkinson-White syndrome are born with a heart abnormality that affects the coordinated movement of electrical signals through the heart. This abnormality leads to an abnormally fast heartbeat (tachyca...
Peutz-Jeghers syndrome is 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 noncancerous polyps and cancerous tumors. In about half of all cases, an affected person inherits a mutation in the STK11 gene from one affected pa...
Mutations in the ALG12 gene cause ALG12-CDG. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). Glycosylation modifies proteins and lipids so they can ...
There is no cure for lupus. Treatment is symptomatic. With a combination of medication, rest, exercise, proper nutrition, and stress management, most individuals with lupus can often achieve remission or reduce their symptom levels. Medications used in the treatment of lupus may include aspirin and other nonsteroidal a...
These resources address the diagnosis or management of ornithine translocase deficiency: - Baby's First Test - Gene Review: Gene Review: Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Hyperornithinemia-hyperammonemia-...
Coronaviruses are common viruses that most people get some time in their life. They are common throughout the world, and they can infect people and animals. Several different coronaviruses can infect people and make them sick. They usually cause mild to moderate upper-respiratory illness. But, some coronaviruses can ca...
Is hepatic encephalopathy inherited? Hepatic encephalopathy is not an inherited condition, so an individual who has it cannot pass it on to his/her children. It is brought on by chronic liver failure, particularly in alcoholics with cirrhosis. Although there are many theories and possibilities regarding what exactly ca...
Nonsyndromic holoprosencephaly is inherited in an autosomal dominant pattern, which means an alteration in one copy of a gene in each cell is usually sufficient to cause the disorder. However, not all people with a gene mutation will develop signs and symptoms of the condition. In some cases, an affected person inheri...
Mutations in the SPR gene cause sepiapterin reductase deficiency. The SPR gene provides instructions for making the sepiapterin reductase enzyme. This enzyme is involved in the production of a molecule called tetrahydrobiopterin (also known as BH4). Specifically, sepiapterin reductase is responsible for the last step i...
These resources address the diagnosis or management of Laron syndrome: - Children's Hospital of Pittsburgh: Growth Hormone Treatment - Cinncinati Children's Hospital Medical Center: Growth Hormone Therapy - Genetic Testing Registry: Laron-type isolated somatotropin defect These resources from MedlinePlus offer inf...
Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. The accumulation of fats in muscle tissue leads to muscle weakness (myopathy). This condition is caused by mutations in the PNPLA2 gene. It is inherited in an autosomal rece...
Mucolipidosis III alpha/beta is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3. Individuals with mucolipidosis III alpha/beta grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to ...
Protein S deficiency is caused by mutations in the PROS1 gene. This gene provides instructions for making protein S, which is found in the bloodstream and is important for controlling blood clotting. Protein S helps block the activity of (inactivate) certain proteins that promote the formation of blood clots. Most mut...
The bacteria that cause nocardiosis are commonly found in soil and water. You could become sick with nocardiosis if: - You inhale (breathe in) the bacteria - Bacteria gets into an open wound or cut In rare cases, infection can occur during surgical procedures. Fortunately, nocardiosis...
Summary : Safe steps in food handling, cooking, and storage can prevent foodborne illness. There are four basic steps to food safety at home: - Clean - always wash your fruits and vegetables, hands, counters, and cooking utensils. - Separate - keep raw foods to themselves. Germs can spread from one food to ano...
This condition has an autosomal recessive pattern of inheritance, which means both copies of the STAMBP gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show signs and ...
These resources address the diagnosis or management of cytochrome c oxidase deficiency: - Cincinnati Children's Hospital: Acute Liver Failure - Cincinnati Children's Hospital: Cardiomyopathies - Genetic Testing Registry: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency - Genetic Test...
The ideal treatment for myelinolysis is to prevent the disorder by identifying individuals at risk and following careful guidelines for evaluation and correction of hyponatremia. These guidelines aim to safely restore the serum sodium level, while protecting the brain. For those who have hyponatremia for at least 2 day...
No treatment for an ectopic kidney is needed if urinary function is normal and no blockage of the urinary tract is present. If tests show an obstruction, surgery may be needed to correct the position of the kidney to allow for better drainage of urine. Reflux can be corrected by surgery to alter the ur...
Autoimmune gastrointestinal dysmotility (AGID) is a rare form of autoimmune autonomic neuropathy that can occur either due to an idiopathic cause or a paraneoplastic cause. Idiopathic forms of AGID are a manifestation of autoimmune autonomic neuropathy that affects the digestive nervous system. The signs and symptoms o...
Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. Cancer of ...
How might hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) be diagnosed? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is diagnosed by a magnetic resonance imaging (MRI) scan of the brain. When the following three features are identified in the brain of an affected individual...
Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability. Recurrent seizures (epilepsy) develop in infancy or early childhood. In many cases, the seizures are resistant to treatment with anti-epileptic drugs. Most people with ring chromosome 14 syndrome also have some degree of i...
TAR syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell are altered. In this disorder, either both copies of the RBM8A gene in each cell have mutations or, more commonly, one copy of the gene has a mutation and the other is lost as part of a deleted segment on chrom...
Treatment is highly individualized. The first step is generally to stop or minimize the use of the neuroleptic drug, but this can be done only under close supervision of the physician.. However, for patients with a severe underlying condition this may not be a feasible option. Replacing the neuroleptic drug with substi...
What causes cerebrotendinous xanthomatosis? Cerebrotendinous xanthomatosis is caused by mutations in the CYP27A1 gene. This condition is inherited in an autosomal recessive pattern.
Nocardiosis is a rare disorder that affects the brain, skin, and/or lungs. It occurs mainly in people with a weakened immune system. This condition usually starts in the lungs and can spread to other body organs. Affected individuals usually experience problems with their lungs (chest pain, coughing up blood, fevers), ...
The incidence of Simpson-Golabi-Behmel syndrome is unknown. At least 130 people worldwide have been diagnosed with this disorder.
Is hyper IgD syndrome inherited? Hyper IgD syndrome is inherited in an autosomal recessive manner, 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 symptom...
Hypocomplementemic urticarial vasculitis (HUV) is a rare form of cutaneous small-vessel vasculitis characterized by recurrent episodes of urticaria and painful, tender, burning or itchy skin lesions, often associated with extracutaneous involvement but usually with no significant peripheral nerve damage. Patients with ...
Infantile spasms are estimated to affect 1 to 1.6 in 100,000 individuals. This estimate includes X-linked infantile spasm syndrome as well as infantile spasms that have other causes.