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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.
How might cone-rod dystrophy be treated? Currently, there is no therapy that stops the evolution of cone-rod dystrophy or restores vision. There are a few treatment options, such as light avoidance and the use of low-vision aids that may help to slow down the degenerative process. It is important that people with cone-rod dystrophy recieve support and resources to help them cope with the social and psychological impact of vision loss.
How is SHORT syndrome diagnosed? There is no formal criteria for diagnosis yet. The term SHORT syndrome was first created to reflect several of the features of the original reported cases: Short stature, Hyperextensibility, Ocular depression (deeply set eyes), Rieger anomaly, and Teething delay. However, it is now recognized that all of these five features are neither required to make the diagnosis nor necessarily the most specific features of SHORT syndrome. The features most consistently observed in SHORT syndrome include: Intrauterine growth restriction (IUGR) Short stature Partial lipodystrophy Facial characteristics: Face with triangular shape, prominent forehead, deep-set eyes, nose with a narrow low-hanging tip and thin nasal alae, small chin with a central dimple and large ears that are low-set. Other frequent features include: Axenfeld-Rieger anomaly or related eye anomalies Delayed dentition Diabetes. In general, the facial features allow to make a suspicion of the diagnosis. Diagnosis is confirmed with the genetic testing showing a mutation in the PIK3R1 gene.
There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive.
Hereditary mucoepithelial dysplasia (HMD) is a condition that affects the skin, hair, mucosa (areas of the body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.
Prediabetes is a condition in which blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. Prediabetes is also called impaired fasting glucose or impaired glucose tolerance. Many people with prediabetes develop type 2 diabetes within 10 years. In addition, they are at risk for heart disease and stroke. With modest weight loss and moderate physical activity, people with prediabetes can delay or prevent type 2 diabetes and lower their risk of heart disease and stroke.
Mutations in the TMPRSS6 gene cause iron-refractory iron deficiency anemia. This gene provides instructions for making a protein called matriptase-2, which helps regulate iron levels in the body. TMPRSS6 gene mutations reduce or eliminate functional matriptase-2, which disrupts iron regulation and leads to a shortage of iron in the bloodstream. Iron is an essential component of hemoglobin, which is the molecule in red blood cells that carries oxygen. When not enough iron is available in the bloodstream, less hemoglobin is produced, causing red blood cells to be abnormally small and pale. The abnormal cells cannot carry oxygen effectively to the body's cells and tissues, which leads to fatigue, weakness, and other symptoms of anemia.
TPMT deficiency results from changes in the TPMT gene. This gene provides instructions for making the TPMT enzyme, which plays a critical role in breaking down (metabolizing) thiopurine drugs. Once inside the body, these drugs are converted to toxic compounds that kill immune system cells in the bone marrow. The TPMT enzyme "turns off" thiopurine drugs by breaking them down into inactive, nontoxic compounds. Changes in the TPMT gene reduce the stability and activity of the TPMT enzyme. Without enough of this enzyme, the drugs cannot be "turned off," so they stay in the body longer and continue to destroy cells unchecked. The resulting damage to the bone marrow leads to potentially life-threatening myelosuppression.
L-2-hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition typically begin during infancy or early childhood and may include developmental delay, seizures, speech difficulties, macrocephaly and abnormalities in a part of the brain called the cerebellum, which is involved in coordinating movement (i.e. balance and muscle coordination). L-2-hydroxyglutaric aciduria is caused by changes (mutations) in the L2HGDH gene and is inherited in an autosomal recessive manner. Treatment is focused on alleviating the signs and symptoms of the condition, such as medications to control seizures.
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.
- If you have diabetes, the best time to control your blood glucose, also called blood sugar, is before you get pregnant. High blood glucose levels can be harmful to your baby during the first weeks of pregnancyeven before you know you are pregnant. - Keeping your blood glucose as close to normal as possible before and during your pregnancy is the most important thing you can do to stay healthy and have a healthy baby. - Before you get pregnant, you can plan and prepare for having a healthy pregnancy and a healthy baby. If you have diabetes and are already pregnant, you can make sure you are doing everything you can to take care of yourself and your diabetes during your pregnancy. - Regular visits with members of a health care team who are experts in diabetes and pregnancy will ensure you get the best care. Your health care team can help you learn how to use a healthy eating plan, physical activity, and medicines to reach your blood glucose targets before and during pregnancy. - During pregnancy, the safest diabetes medicine is insulin. Your health care team will work with you to make a personalized insulin routine. Some medicines are not safe during pregnancy and should be stopped before you get pregnant. Your doctor can tell you which medicines to stop taking. - You will have tests throughout your pregnancy to check your baby's health. - You can give your baby a healthy start by breastfeeding.
These resources address the diagnosis or management of Werner syndrome: - Gene Review: Gene Review: Werner Syndrome - Genetic Testing Registry: Werner syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Cytochrome C oxidase deficiency (COX deficiency) is a condition that can affect several parts of the body including the skeletal muscles, heart, brain and liver. The range and severity of signs and symptoms can vary widely among affected individuals (even within the same family) and depend on the form of the condition present. Features in mildly affected individuals may include muscle weakness and hypotonia; in more severely affected individuals, brain dysfunction; heart problems; an enlarged liver; lactic acidosis; and/or a specific group of features known as Leigh syndrome may also be present. COX deficiency is caused by mutations in any of at least 14 genes; the inheritance pattern depends on the gene involved. The condition is frequently fatal in childhood, but mildly affected individuals may survive into adolescence or adulthood.
To help prevent a UTI, make sure your child drinks enough fluids each day. Talk with your childs health care provider to find out how much fluid your child should drink.
Is situs inversus inherited? The genetics of situs inversus is complex. Several familial cases have been reported in which the inheritance has been described as either autosomal recessive (most commonly), autosomal dominant, or X-linked. The condition appears to be genetically heterogeneous, meaning that different genetic factors or genes may cause the condition among different people or families. If situs inversus is associated with another underlying syndrome or condition, the inheritance pattern may be the same as that of the underlying condition. People with questions about genetic risks to themselves or family members are encouraged to speak with a genetics professional.
Tracheal agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia). Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color (cyanosis) and no audible cry shortly after birth. The underlying cause of tracheal agenesis is currently unknown. Approximately 90% of cases are associated with other anomalies, including those of the cardiovascular system, the gastrointestinal system and the genitourinary tract. Some cases may be part of a very rare condition known as VACTERL association. Surgery to repair the trachea may be attempted; however, the long-term outlook is generally poor in most cases.
47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Although males with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most males with 47,XYY syndrome have normal sexual development and are able to father children. 47,XYY syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), hand tremors or other involuntary movements (motor tics), and behavioral and emotional difficulties are also possible. These characteristics vary widely among affected boys and men. A small percentage of males with 47,XYY syndrome are diagnosed with autistic spectrum disorders, which are developmental conditions that affect communication and social interaction.
These resources address the diagnosis or management of common variable immune deficiency: - Genetic Testing Registry: Common variable immunodeficiency 10 - Genetic Testing Registry: Common variable immunodeficiency 11 - Genetic Testing Registry: Common variable immunodeficiency 2 - Genetic Testing Registry: Common variable immunodeficiency 5 - Genetic Testing Registry: Common variable immunodeficiency 6 - Genetic Testing Registry: Common variable immunodeficiency 7 - Genetic Testing Registry: Common variable immunodeficiency 8, with autoimmunity - Genetic Testing Registry: Common variable immunodeficiency 9 - KidsHealth from Nemours: Blood Test: Immunoglobulins - MedlinePlus Encyclopedia: Immunodeficiency Disorders - National Marrow Donor Program - Primary Immune Deficiency Treatment Consortium - United States Immunodeficiency Network These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and offers hope for new means to treat and prevent congenital brain disorders including neural tube defects such as encephaloceles.
Summary : Healthy teeth are important to your child's overall health. From the time your child is born, there are things you can do to promote healthy teeth and prevent cavities. For babies, you should clean teeth with a soft, clean cloth or baby's toothbrush. Avoid putting the baby to bed with a bottle and check teeth regularly for spots or stains. For all children, you should - Start using a pea-sized amount of fluoride toothpaste when they are two years old. You might start sooner, if a dentist or doctor suggests it. - Provide healthy foods and limit sweet snacks and drinks - Schedule regular dental check-ups Forming good habits at a young age can help your child have healthy teeth for life. NIH: National Institute of Dental and Craniofacial Research
The causes are probably different for different types of diabetic neuropathy. Researchers are studying how prolonged exposure to high blood glucose causes nerve damage. Nerve damage is likely due to a combination of factors: - metabolic factors, such as high blood glucose, long duration of diabetes, abnormal blood fat levels, and possibly low levels of insulin - neurovascular factors, leading to damage to the blood vessels that carry oxygen and nutrients to nerves - autoimmune factors that cause inflammation in nerves - mechanical injury to nerves, such as carpal tunnel syndrome - inherited traits that increase susceptibility to nerve disease - lifestyle factors, such as smoking or alcohol use
Toxoplasmosis is a disease caused by the parasite Toxoplasma gondii. More than 60 million people in the U.S. have the parasite. Most of them don't get sick. But the parasite causes serious problems for some people. These include people with weak immune systems and babies whose mothers become infected for the first time during pregnancy. Problems can include damage to the brain, eyes, and other organs. You can get toxoplasmosis from - Waste from an infected cat - Eating contaminated meat that is raw or not well cooked - Using utensils or cutting boards after they've had contact with contaminated raw meat - Drinking infected water - Receiving an infected organ transplant or blood transfusion Most people with toxoplasmosis don't need treatment. There are drugs to treat it for pregnant women and people with weak immune systems. Centers for Disease Control and Prevention
Gilbert syndrome can have different inheritance patterns. When the condition is caused by the UGT1A1*28 change in the promoter region of the UGT1A1 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have the mutation. 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. When the condition is caused by a missense mutation in the UGT1A1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. A more severe condition known as Crigler-Najjar syndrome occurs when both copies of the UGT1A1 gene have mutations.
What causes Schnitzler syndrome? The exact underlying cause of Schnitzler syndrome is currently unknown. People affected by this condition often have a blood abnormality called monoclonal gammopathy, a condition in which the body over-produces certain immunoglobulins (typically immunoglobulin M). Immunoglobulins are proteins that are made by certain white blood cells. They play a role in the immune response by helping destroy bacteria, viruses, and other substances that appear foreign and harmful. Some researchers believe that the abnormal accumulation of immunoglobulins in the skin and other parts of the body may play a role in the development of the signs and symptoms of Schnitzler syndrome. Other scientists speculate that alterations in cytokines may play a role in the development of Schnitzler syndrome. Cytokines are specialized proteins that play an important role in the immune response. They are secreted by certain immune system cells and play a vital role in controlling the growth and activity of other immune system cells. Abnormal findings involving a specific cytokine called interleukin-1 have been found in some people with Schnitzler syndrome.
X-linked hyper IgM syndrome is estimated to occur in 2 per million newborn boys.
Brain plasticity is the brain's ability to learn and change, allowing it to adapt to deficits and injury and to take over the functions of damaged cells. When cells in an area of the brain responsible for a particular function die after a stroke, the patient becomes unable to perform that function. However, the brain's ability torewire the connections between its nerve cells allows it to compensate for lost functions.
When gingivitis is not treated, it can advance to periodontitis (which means "inflammation around the tooth.") In periodontitis, gums pull away from the teeth and form "pockets" that become infected. The body's immune system fights the bacteria as the plaque spreads and grows below the gum line. Bacterial toxins and the body's enzymes fighting the infection actually start to break down the bone and tissue that hold teeth in place. If not treated, the bones, gums, and tissue that support the teeth are destroyed. The teeth may eventually become loose and have to be removed.
What causes muscle eye brain disease? Muscle eye brain disease is caused by mutations in the POMGNT1 gene. This gene provides instructions for making a protein that is involved in adding sugar molecules to a protein called alpha dystroglycan. Alpha dystroglycan is important for stabilizing the muscle cell during contraction and relaxation. This protein is also found in the brain and spinal cord (central nervous system), eye, and other parts of the body. All of the reported mutations in the POMGNT1 gene result in a complete loss of function of the POMGNT1 protein. The lack of functional POMGNT1 protein disrupts production of alpha dystroglycan.
The prevalence of combined pituitary hormone deficiency is estimated to be 1 in 8,000 individuals worldwide.
Key Points - The area where the tumor is found and the childs age are used in place of a staging system to plan cancer treatment. - The information from tests and procedures done to detect (find) childhood ependymoma is used to plan cancer treatment. The area where the tumor is found and the childs age are used in place of a staging system to plan cancer treatment. Staging is the process used to find out how much cancer there is and if cancer has spread. There is no standard staging system for childhood ependymoma. Treatment is based on where the cancer is in the body and the age of the child. The information from tests and procedures done to detect (find) childhood ependymoma is used to plan cancer treatment. Some of the tests used to detect childhood ependymoma are repeated after the tumor is removed by surgery. (See the General Information section.) This is to find out how much tumor remains after surgery.
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 cells produce a normal amount of the holocytochrome c-type synthase enzyme and other cells produce none. The resulting overall reduction in the amount of this enzyme leads to the signs and symptoms of microphthalmia with linear skin defects syndrome. In males (who have only one X chromosome), mutations result in a total loss of the holocytochrome c-type synthase enzyme. A lack of this enzyme appears to be lethal very early in development, so almost no males are born with microphthalmia with linear skin defects syndrome. A few affected individuals with male appearance but who have two X chromosomes have been identified. Most cases of microphthalmia with linear skin defects syndrome occur in people with no history of the disorder in their family. These cases usually result from the deletion of a segment of the X chromosome during the formation of reproductive cells (eggs and sperm) or in early fetal development. They may also result from a new mutation in the HCCS gene.
These resources address the diagnosis or management of X-linked spondyloepiphyseal dysplasia tarda: - Gene Review: Gene Review: X-Linked Spondyloepiphyseal Dysplasia Tarda - Genetic Testing Registry: Spondyloepiphyseal dysplasia tarda These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Summary : Mental health includes our emotional, psychological, and social well-being. It affects how we think, feel and act as we cope with life. It also helps determine how we handle stress, relate to others, and make choices. Mental health is important at every stage of life, from childhood and adolescence through adulthood. Mental illnesses are serious disorders which can affect your thinking, mood, and behavior. There are many causes of mental disorders. Your genes and family history may play a role. Your life experiences, such as stress or a history of abuse, may also matter. Biological factors can also be part of the cause. Mental disorders are common, but treatments are available.
Fowlers syndrome is characterized by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease. Some women with this syndrome have polycystic ovaries as well.
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.
Herpes zoster oticus is a common complication of shingles, an infection caused by the varicella-zoster virus (which is the virus that also causes chickenpox). Shingles occurs in people who have had chickenpox and the varicella-zoster virus becomes active again. Herpes zoster oticus is caused by the spread of the virus to facial nerves and can cause intense ear pain; a rash around the ear, mouth, face, neck, and scalp; and paralysis of the face. Other symptoms may include hearing loss, vertigo (feeling that the room is spinning), tinnitus (hearing abnormal sounds), loss of taste in the tongue, and dry mouth and eyes. Some cases of herpes zoster oticus do not require treatment, but when treatment is needed, pain medications, antiviral drugs or corticosteroids may be prescribed. Vertigo is sometimes treated with medication as well. The prognosis of herpes zoster oticus is typically good but in some cases, hearing loss or facial paralysis may be permanent.
Is genetic testing available for Cushing's symphalangism? GeneTests lists the names of laboratories that are performing genetic testing for Cushing's symphalangism. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we provide a list of online resources that can assist you in locating a genetics professional near you.
Generally, treatment for the disorder begins with stretching exercises and massage. Anti-inflammatory drugs may be prescribed. Cessation of running, bicycling, or similar activities may be advised. A corticosteroid injection near where the piriformis muscle and the sciatic nerve meet may provide temporary relief. In some cases, surgery is recommended.
The exact prevalence of PVOD is unknown. Many cases are likely misdiagnosed as idiopathic pulmonary arterial hypertension, which is increased blood pressure in the pulmonary arteries without a known cause. Research suggests that 5 to 25 percent of people diagnosed with idiopathic pulmonary arterial hypertension have PVOD. Based on these numbers, PVOD is thought to affect an estimated 1 to 2 per 10 million people.
Lattice corneal dystrophy is a type of stromal dystrophy. It is characterized by the build up of protein fibers (i.e., amyloid) in the stroma. Symptoms may include corneal erosions, decreased vision, photosensitivity, and eye pain. Most cases of lattice dystrophy are caused by mutations in the TGFBI gene.
The incidence of isolated growth hormone deficiency is estimated to be 1 in 4,000 to 10,000 individuals worldwide.
Lissencephaly, which literally means "smooth brain," is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). In the usual condition of lissencephaly, children usually have a normal sized head at birth. In children with reduced head size at birth, the condition microlissencephaly is typically diagnosed. Lissencephaly is caused by defective neuronal migration during embryonic development, the process in which nerve cells move from their place of origin to their permanent location within the cerebral cortex gray matter. Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation. Hands, fingers, or toes may be deformed. Lissencephaly may be associated with other diseases including isolated lissencephaly sequence, Miller-Dieker syndrome, and Walker-Warburg syndrome. Sometimes it can be difficult to distinguish between these conditions clinically so consultation with national experts is recommended to help ensure correct diagnosis and possible molecular testing.
Is relapsing polychondritis inherited? Relapsing polychondritis (RP) is not passed through families in a clear-cut fashion. Most people with relapsing polychondritis do not have affected relatives. Like many other autoimmune conditions, RP is likely a multifactorial condition which is associated with the effects of multiple genes in combination with lifestyle and environmental factors. In general, having a first degree relative (for example a parent, child, or sibling) with an autoimmune condition may increase your personal risk for developing an autoimmune condition. Unfortunately, no specific risk estimates are available for relapsing polychondritis.
Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.
Many people with gallstones do not have symptoms. Gallstones that do not cause symptoms are called asymptomatic, or silent, gallstones. Silent gallstones do not interfere with the function of the gallbladder, liver, or pancreas. If gallstones block the bile ducts, pressure increases in the gallbladder, causing a gallbladder attack. The pain usually lasts from 1 to several hours.1 Gallbladder attacks often follow heavy meals, and they usually occur in the evening or during the night. Gallbladder attacks usually stop when gallstones move and no longer block the bile ducts. However, if any of the bile ducts remain blocked for more than a few hours, complications can occur. Complications include infl ammation, or swelling, of the gallbladder and severe damage or infection of the gallbladder, bile ducts, or liver. A gallstone that becomes lodged in the common bile duct near the duodenum and blocks the pancreatic duct can cause gallstone pancreatitisin flammation of the pancreas. Left untreated, blockages of the bile ducts or pancreatic duct can be fatal.
Sudden infant death syndrome (SIDS) is the sudden, unexplained death of an infant younger than one year old. Some people call SIDS "crib death" because many babies who die of SIDS are found in their cribs. SIDS is the leading cause of death in children between one month and one year old. Most SIDS deaths occur when babies are between two months and four months old. Premature babies, boys, African Americans, and American Indian/Alaska Native infants have a higher risk of SIDS. Although health care professionals don't know what causes SIDS, they do know ways to reduce the risk. These include - Placing babies on their backs to sleep, even for short naps. "Tummy time" is for when babies are awake and someone is watching - Using a firm sleep surface, such as a crib mattress covered with a fitted sheet - Keeping soft objects and loose bedding away from sleep area - Making sure babies don't get too hot. Keep the room at a comfortable temperature for an adult. - Don't smoke during pregnancy or allow anyone to smoke near your baby NIH: National Institute of Child Health and Human Development
The prevalence of X-linked juvenile retinoschisis is estimated to be 1 in 5,000 to 25,000 men worldwide.
Cancer of the eye is uncommon. It can affect the outer parts of the eye, such as the eyelid, which are made up of muscles, skin and nerves. If the cancer starts inside the eyeball it's called intraocular cancer. The most common intraocular cancers in adults are melanoma and lymphoma. The most common eye cancer in children is retinoblastoma, which starts in the cells of the retina. Cancer can also spread to the eye from other parts of the body. Treatment for eye cancer varies by the type and by how advanced it is. It may include surgery, radiation therapy, freezing or heat therapy, or laser therapy.
What are the signs and symptoms of Pachygyria, frontotemporal? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria, frontotemporal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Esotropia - Hypertelorism - Intellectual disability, moderate - Pachygyria - Seizures - Telecanthus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Tracheoesophageal fistula (TEF) is a life-threatening condition in which there is an abnormal connection between the esophagus and trachea (windpipe). The esophagus and trachea run next to each other through the chest cavity. The esophagus carries food and saliva to the stomach, while the trachea carries air to the lungs. TEF can lead to severe and fatal lung complications. Saliva and gastric secretions can be aspirated into the lungs, and normal swallowing and digestion of food cannot occur. Most affected people are diagnosed immediately after birth or during infancy. Symptoms may include frothy bubbles of mucus in the mouth and nose; episodes of coughing and choking; and worsening symptoms during feeding. TEF may be isolated, or it may occur with other physical or developmental abnormalities (most commonly, esophageal atresia). In many cases the cause is unknown but it has been associated with some chromosome disorders. In some cases it may be acquired later in life after a cancer, infection, ruptured diverticula, or trauma. Treatment includes immediate surgical repair with survival rates of almost 100%.
Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with distal chromosome 18q deletion syndrome include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about distal 18q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 18. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
How might primary angiitis of the central nervous system be treated? The current treatment recommendation is to start with oral prednisone at a dose of 1 mg/kg per day and cyclophosphamide at a dose of 2 mg/kg per day. Most centers use prednisone and cyclophosphamide for 4-6 months to induce clinical remission, and then taper prednisone off. Patients generally stay on cyclophosphamide therapy between three and six months, depending on when remission occurs and if there are any potential side effects from cyclophosphamide. Once cyclophosphamide is discontinued, it should be replaced with a less toxic medication for an additional six to twelve months of maintenance therapy. Some doctors switch from cyclophosphamide to azathioprine (2 mg/kg) or mycophenolate mofetil. Methotrexate can also be used, but may be limited by its difficulty to cross the blood brain barrier. There is limited data on how long the maintenance therapy lasts so the decision on the duration of the therapy should be individualized, based upon how the patient responds to therapy.
Spina bifida is one of the most common types of neural tube defect, affecting an estimated 1 in 2,500 newborns worldwide. For unknown reasons, the prevalence of spina bifida varies among different geographic regions and ethnic groups. In the United States, this condition occurs more frequently in Hispanics and non-Hispanic whites than in African Americans.
What are the signs and symptoms of Talipes equinovarus? The Human Phenotype Ontology provides the following list of signs and symptoms for Talipes equinovarus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Foot polydactyly 5% Patellar hypoplasia 5% Autosomal dominant inheritance - Incomplete penetrance - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
These resources address the diagnosis or management of multiple familial trichoepithelioma: - Genetic Testing Registry: Familial multiple trichoepitheliomata - Genetic Testing Registry: Trichoepithelioma multiple familial 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What causes hemochromatosis? The underlying cause of hemochromatosis depends on whether a person has a hereditary form, an acquired form, or the neonatal form. Hereditary hemochromatosis is caused by mutations in any of several genes: type 1 hemochromatosis - the HFE gene type 2 hemochromatosis - either the HFE2 or HAMP gene type 3 hemochromatosis - the TFR2 gene type 4 hemochromatosis - the SLC40A1 gene These genes give the body instructions to make proteins that help regulate how iron is absorbed, transported, and stored. Mutations in these genes impair how iron is absorbed during digestion and alter the distribution of iron throughout the body. This causes iron to accumulate in tissues and organs. Acquired hemochromatosis (or secondary hemochromatosis) is usually due to other blood-related disorders, such as thalassemia or certain anemias, or having many blood transfusions. Sometimes it occurs as a result of long-term alcoholism or other health conditions. The cause of neonatal hemochromatosis is not fully understood. However, a woman with an affected child has approximately an 80% chance to have another affected child. This likelihood of recurrence is not explained by normal inheritance patterns. Therefore, this form appears to be familial, but not inherited.
Tetrahydrobiopterin (BH4) deficiency is a neurological condition caused by an inborn error of metabolism. BH4 is a substance in the body that enhances the action of other enzymes. Deficiency of BH4 leads to abnormally high blood levels of the amino acid phenylalanine, and low levels of certain neurotransmitters. Signs and symptoms can range from very mild to severe. Affected newborns appear normal at birth, but may begin to experience neurological symptoms such as abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development. Without early, appropriate treatment, the condition can cause permanent intellectual disability and even death. BH4 deficiency is caused by mutations in any one of several genes including the GCH1, PCBD1, PTS, and QDPR genes. It is inherited in an autosomal recessive manner.Treatment depends on the genetic cause and severity, and may include a low phenylalanine diet; oral BH4 supplementation; and neurotransmitter replacement.
These resources address the diagnosis or management of mucolipidosis type IV: - Gene Review: Gene Review: Mucolipidosis IV - Genetic Testing Registry: Ganglioside sialidase deficiency - MedlinePlus Encyclopedia: Gastrin These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Mntriers disease is rare. The disease is more common in men than in women. The average age at diagnosis is 55.2
Bereavement is the period of grief and mourning after a death. When you grieve, it's part of the normal process of reacting to a loss. You may experience grief as a mental, physical, social or emotional reaction. Mental reactions can include anger, guilt, anxiety, sadness and despair. Physical reactions can include sleeping problems, changes in appetite, physical problems or illness. How long bereavement lasts can depend on how close you were to the person who died, if the person's death was expected and other factors. Friends, family and faith may be sources of support. Grief counseling or grief therapy is also helpful to some people. NIH: National Cancer Institute
These resources address the diagnosis or management of episodic ataxia: - Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) - Gene Review: Gene Review: Episodic Ataxia Type 1 - Gene Review: Gene Review: Episodic Ataxia Type 2 - Genetic Testing Registry: Episodic ataxia type 1 - Genetic Testing Registry: Episodic ataxia type 2 - Genetic Testing Registry: Episodic ataxia, type 3 - Genetic Testing Registry: Episodic ataxia, type 4 - Genetic Testing Registry: Episodic ataxia, type 7 - MedlinePlus Encyclopedia: Movement - uncoordinated - MedlinePlus Encyclopedia: Vertigo-associated disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
In 2008, an estimated 14.8 percent of American adults (33.4 million) had a balance or dizziness problem during the past year. See statistics about the frequency of balance and other sensory impairments in older adults. (Centers for Disease Control and Prevention)
What are the signs and symptoms of Factor XI deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Factor XI deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Autosomal dominant inheritance - Autosomal recessive inheritance - Prolonged partial thromboplastin time - Reduced factor XI activity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
How might HANAC syndrome be treated? In order to know how HANAC syndrome is affecting you, your doctor may recommend that you undergo a series of imaging tests of the brain and kidney, an eye exam, and blood tests (e.g., serum CK concentration). While there is not a targeted treatment for HANAC syndrome, treatments are available to manage its signs and symptoms, such as drugs to reduce high blood pressure, manage headaches, and treat arrhythmia. People with HANAC syndrome may be regularly monitored (e.g., once a year) for signs and symptoms. In order to reduce the risk for health complications, your doctor may advise you to avoid smoking, activities that can cause head trauma, and blood thinners (anticoagulants).
Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.
The incidence of idiopathic inflammatory myopathy is approximately 2 to 8 cases per million people each year. For unknown reasons, polymyositis and dermatomyositis are about twice as common in women as in men, while sporadic inclusion body myositis is more common in men.
The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on either side of the windpipe. The thyroid is one of the glands that make up the endocrine system. The glands of the endocrine system produce, store, and release hormones into the bloodstream. The hormones then travel through the body and direct the activity of the bodys cells. The thyroid gland makes two thyroid hormones, triiodothyronine (T3) and thyroxine (T4). T3 is the active hormone and is made from T4. Thyroid hormones affect metabolism, brain development, breathing, heart and nervous system functions, body temperature, muscle strength, skin dryness, menstrual cycles, weight, and cholesterol levels. Thyroid hormone production is regulated by thyroid-stimulating hormone (TSH), which is made by the pituitary gland in the brain. When thyroid hormone levels in the blood are low, the pituitary releases more TSH. When thyroid hormone levels are high, the pituitary responds by decreasing TSH production.
The prevalence of corticosteroid-binding globulin deficiency is unknown, but it is thought to be a rare disorder. However, because some people with the disorder have mild or no symptoms, it is likely that corticosteroid-binding globulin deficiency is underdiagnosed.
To diagnose AI/ACD, a health care provider orders a blood test called a complete blood count (CBC). A blood test involves drawing a persons blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. The CBC includes a measurement of a persons hematocrit, the percentage of the blood that consists of red blood cells. The CBC also measures the amount of hemoglobin in the blood and can show whether a person has a lower than normal number of red blood cells. In addition to measuring hematocrit and hemoglobin, the CBC includes two other measurements to show whether a person has enough iron: - The ferritin level indicates the amount of iron stored in the body. A ferritin score below 200 nanograms per liter is a sign that a person may have an iron deficiency. - The transferrin saturation (TSAT) is a score that indicates how much iron is available, or circulating, to make red blood cells. A TSAT score below 20 percent is another sign of iron deficiency.3 A CBC result that shows low iron levels in the blood yet normal measures of iron stores in the body is a hallmark of AI/ACD.
What are the signs and symptoms of pityriasis lichenoides et varioliformis acuta? Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. It is characterized by the sudden onset of red patches that quickly develop into scaling papules. These papules may become filled with blood and/or pus or erode into crusted red-brown spots. People may also experience burning and itching of the affected area. Scarring and/or temporary discoloration of the skin may be present after the lesions have healed. Although PLEVA can affect almost any part of the body, it most commonly develops on the trunk and/or limbs (arms/legs). Affected people may have a few to more than one hundred papules. The skin abnormalities generally resolve without treatment in a few weeks to a few months; however, some people experience episodes of the condition on and off for years. Aside from the skin findings, most affected people do not experience any additional signs and symptoms. However, some may experience fever, headaches, joint pain and swelling of nearby lymph nodes. Febrile Ulceronecrotic Mucha-Haberman Disease is a rare and severe variant of PLEVA that is associated with unique signs and symptoms. For more information on this condition, please click here.
If you're a parent, you get plenty of suggestions on how to raise your child. From experts to other parents, people are always ready to offer advice. Parenting tips, parents' survival guides, dos, don'ts, shoulds and shouldn'ts - new ones come out daily. The truth is there is more than one "right" way to be a good parent. Good parenting includes - Keeping your child safe - Showing affection and listening to your child - Providing order and consistency - Setting and enforcing limits - Spending time with your child - Monitoring your child's friendships and activities - Leading by example NIH: National Institute of Child Health and Human Development
Signs and symptoms of chronic myelomonocytic leukemia include fever, weight loss, and feeling very tired. These and other signs and symptoms may be caused by CMML or by other conditions. Check with your doctor if you have any of the following: - Fever for no known reason. - Infection. - Feeling very tired. - Weight loss for no known reason. - Easy bruising or bleeding. - Pain or a feeling of fullness below the ribs.
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.
Hypochondroplasia is a form dwarfism that affects the conversion of cartilage into bone, particularly in the long bones of the arms and legs. Hypochondroplasia is similar to achondroplasia, but the features tend to be milder. People with this condtion usually have short arms and legs and broad, short hands and feet. Other features include a large head, limited range of motion in the elbows, lordosis, and bowed legs. Hypochondroplasia is caused by mutations in the FGFR3 gene and is inherited in an autosomal dominant fashion.
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, this condition likely results from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short stature, heart defects and limb abnormalities. Most cases are approximately 2.2 Mb in size and include the transcription factor genes TBX2 and TBX4 which have been implicated in a number of developmental pathways, including those of the heart and limbs.
These resources address the diagnosis or management of severe congenital neutropenia: - Cincinnati Children's Hospital: The Severe Congenital Neutropenia International Registry - Gene Review: Gene Review: ELANE-Related Neutropenia - Gene Review: Gene Review: G6PC3 Deficiency - Genetic Testing Registry: Severe congenital neutropenia - Genetic Testing Registry: Severe congenital neutropenia 2, autosomal dominant - Genetic Testing Registry: Severe congenital neutropenia 4, autosomal recessive - Genetic Testing Registry: Severe congenital neutropenia X-linked - Genetic Testing Registry: Severe congenital neutropenia autosomal dominant - MedlinePlus Encyclopedia: Neutropenia--infants These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What are the signs and symptoms of cramp-fasciculation syndrome? Cramp-fasciculation syndrome (CFS) is primarily associated with severe muscle cramps and muscle twitches occurring in otherwise healthy people. These symptoms are often triggered by physical activity and may be relieved by stretching exercises and/or masssage. Muscles in the thighs and calves are most commonly affected, although other muscles (i.e. arm, chest) can also be involved. The severity of the condition varies significantly. In severe cases, CFS can interfere with daily activities (i.e. work, household chores) and quality of life.
Complications of medullary sponge kidney include - hematuria, or blood in the urine - kidney stones - urinary tract infections (UTIs) Medullary sponge kidney rarely leads to more serious problems, such as chronic kidney disease or kidney failure.
Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue. Typical symptoms include hemangiomas (abnormal benign growths on the skin consisting of masses of blood vessels) and varicose veins. Fused toes or fingers, or extra toes or fingers, may be present. In some cases, internal bleeding may occur as a result of blood vessel malformations involving organs such as the stomach, rectum, vagina, liver, spleen, bladder, kidneys, lungs, or heart. Individuals are also at risk for blood clots. The cause of the disorder is unknown. A similar port-wine stain disorder in which individuals have vascular anomalies on the face as well as in the brain is Sturge-Weber syndrome. These individuals may experience seizures and mental deficiency. In some cases, features of the Klippel-Trenaunay syndrome and Sturge-Weber syndrome coincide. Another overlapping condition is the Parkes-Weber syndrome, which is characterized by abnormal connectivity between the arterial and venous system (arteriovenous fistulas).
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. A stone may stay in the kidney or travel down the urinary tract. Kidney stones vary in size. A small stone may pass out of the body causing little or no pain. A larger stone may get stuck along the urinary tract and can block the flow of urine, causing severe pain or blood that can be seen in the urine.
These resources address the diagnosis or management of Lowe syndrome: - Gene Review: Gene Review: Lowe Syndrome - Genetic Testing Registry: Lowe syndrome - MedlinePlus Encyclopedia: Congenital Cataract - MedlinePlus Encyclopedia: Fanconi Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of metachromatic leukodystrophy: - Gene Review: Gene Review: Arylsulfatase A Deficiency - Genetic Testing Registry: Metachromatic leukodystrophy - Genetic Testing Registry: Sphingolipid activator protein 1 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of fibrochondrogenesis: - Genetic Testing Registry: Fibrochondrogenesis - Genetic Testing Registry: Fibrochondrogenesis 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of hereditary hemorrhagic telangiectasia: - Gene Review: Gene Review: Hereditary Hemorrhagic Telangiectasia - Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 2 - Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 3 - Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 4 - Genetic Testing Registry: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome - Genetic Testing Registry: Osler hemorrhagic telangiectasia syndrome - MedlinePlus Encyclopedia: Osler-Weber-Rendu syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs most often in males. This condition mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down prematurely. This destruction of red blood cells is called hemolysis. The most common medical problem associated with glucose-6-phosphate dehydrogenase deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, and a rapid heart rate. In people with glucose-6-dehydrogenase deficiency, hemolytic anemia is most often triggered by bacterial or viral infections or by certain drugs (such as some antibiotics and medications used to treat malaria). Hemolytic anemia can also occur after eating fava beans or inhaling pollen from fava plants (a reaction called favism). Glucose-6-dehydrogenase deficiency is also a significant cause of mild to severe jaundice in newborns. Many people with this disorder, however, never experience any signs or symptoms.
Age can affect the risk of plasma cell neoplasms. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Plasma cell neoplasms are most common in people who are middle aged or older. For multiple myeloma and plasmacytoma, other risk factors include the following: - Being black. - Being male. - Having a personal history of MGUS or plasmacytoma. - Being exposed to radiation or certain chemicals.
The most common symptom of internal hemorrhoids is bright red blood on stool, on toilet paper, or in the toilet bowl after a bowel movement. Internal hemorrhoids that are not prolapsed are usually not painful. Prolapsed hemorrhoids often cause pain, discomfort, and anal itching. Blood clots may form in external hemorrhoids. A blood clot in a vein is called a thrombosis. Thrombosed external hemorrhoids cause bleeding, painful swelling, or a hard lump around the anus. When the blood clot dissolves, extra skin is left behind. This skin can become irritated or itch. Excessive straining, rubbing, or cleaning around the anus may make symptoms, such as itching and irritation, worse. Hemorrhoids are not dangerous or life threatening. Symptoms usually go away within a few days, and some people with hemorrhoids never have symptoms.
These resources address the diagnosis or management of Floating-Harbor syndrome: - Gene Review: Gene Review: Floating-Harbor Syndrome - Genetic Testing Registry: Floating-Harbor syndrome - KidsHealth: Bone Age Study These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
How is spondyloepiphyseal dysplasia congenita inherited? Spondyloepiphyseal dysplasia (SEDC) is typically inherited in an autosomal dominant manner. This means that one altered (mutated) gene in each cell is sufficient to cause the disorder. Most cases of SEDC do not result from inheriting it from a parent, however; the condition more commonly results from a random, new mutation in the gene occurring for the first time in an affected individual who does not have a history SEDC in the family. In most of these cases, the risk to have another child with the condition is comparable to the risk for an individual in the general population to have a child with the condition. A few cases of autosomal recessive forms of SEDC have been reported. Germline mosaicism has also been reported for this condition. In this case, the parent does not have the mutated gene in all the cells of the body (and is not affected), but only in some of the germ cells (sperm or egg cells). The recurrence risk for a parent with germline mosaicism to have another affected child is difficult to predict. For conditions with autosomal dominant inheritance, studies have demonstrated that the risk to have another affected child may be low (about 1%), moderate (about 6%), or higher (about 30%), depending on the proportion of germ cells with the mutation as well as the disorder itself.
The exact incidence of transthyretin amyloidosis is unknown. In northern Portugal, the incidence of this condition is thought to be one in 538 people. Transthyretin amyloidosis is less common among Americans of European descent, where it is estimated to affect one in 100,000 people. The cardiac form of transthyretin amyloidosis is more common among people with African ancestry. It is estimated that this form affects between 3 percent and 3.9 percent of African Americans and approximately 5 percent of people in some areas of West Africa.
Mutation of the ACAN gene can cause familial osteochondritis dissecans. The ACAN gene provides instructions for making the aggrecan protein, which is a component of cartilage. Aggrecan attaches to the other components of cartilage, organizing the network of molecules that gives cartilage its strength. In addition, aggrecan attracts water molecules and gives cartilage its gel-like structure. This feature enables the cartilage to resist compression, protecting bones and joints. The ACAN gene mutation associated with familial osteochondritis dissecans results in an abnormal protein that is unable to attach to the other components of cartilage. As a result, the cartilage is disorganized and weak. It is unclear how the abnormal cartilage leads to the lesions and osteoarthritis characteristic of familial osteochondritis dissecans. Researchers suggest that a disorganized cartilage network in growing bones impairs their normal growth, leading to short stature. Sporadic osteochondritis dissecans is not caused by genetic changes and is not inherited.
The incidence of primary carnitine deficiency in the general population is approximately 1 in 100,000 newborns. In Japan, this disorder affects 1 in every 40,000 newborns.
Mutations in the HGD gene cause alkaptonuria. The HGD gene provides instructions for making an enzyme called homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of proteins. Mutations in the HGD gene impair the enzyme's role in this process. As a result, a substance called homogentisic acid, which is produced as phenylalanine and tyrosine are broken down, accumulates in the body. Excess homogentisic acid and related compounds are deposited in connective tissues, which causes cartilage and skin to darken. Over time, a buildup of this substance in the joints leads to arthritis. Homogentisic acid is also excreted in urine, making the urine turn dark when exposed to air.
What are the signs and symptoms of autoimmune atrophic gastritis? In some cases, autoimmune atrophic gastritis does not cause any obvious signs and symptoms. However, some people may experience nausea, vomiting, a feeling of fullness in the upper abdomen after eating, or abdominal pain. It is often associated with impaired absorption of vitamin B12 and possibly other vitamin deficiencies (such as folate and iron). People with vitamin B12 deficiency are at risk for pernicious anemia, a condition in which the body does not have enough healthy red blood cells. Autoimmune atrophic gastritis is considered a "precancerous" condition and it may be responsible for the development of gastric adenocarcinoma or carcinoids.
The prognosis for individuals with the disorder depends on the severity of the brain and facial deformities.
What causes fibrous dysplasia? The cause of fibrous dysplasia has been linked to a gene mutation that occurs after conception, in the early stages of fetal development. The mutation involves a gene that affects the cells that produce bone. People with fibrous dysplasia carry this mutation in some, but not all cells of their body. It is not well understood why the mutation occurs, but it is not inherited from a parent, nor can it be passed on to future offspring.
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. An affected person usually inherits the altered gene from one affected parent. However, some people with SCA1 do not have a parent with the disorder. As the altered ATXN1 gene is passed down from one generation to the next, the length of the CAG trinucleotide repeat often increases. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. Anticipation tends to be more prominent when the ATXN1 gene is inherited from a person's father (paternal inheritance) than when it is inherited from a person's mother (maternal inheritance). Individuals who have around 35 CAG repeats in the ATXN1 gene do not develop SCA1, but they are at risk of having children who will develop the disorder. As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may lengthen into the range associated with SCA1 (40 repeats or more).
There is no cure for LP. Some doctors have had success treating the skin eruptions with oral steroid drugs and oral dimethyl sulphoxide (DMSO). Carbon dioxide laser surgery of thickened vocal cords and eyelid bumps has proved helpful in some studies. Dermabrasion may improve the appearance of the skin lesions. Seizures, if present, may be treated with anticonvulsants.