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These resources address the diagnosis or management of multiple system atrophy: - Genetic Testing Registry: Shy-Drager syndrome - Vanderbilt Autonomic Dysfunction Center 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 central core disease: - Gene Review: Gene Review: Central Core Disease - Genetic Testing Registry: Central core disease - MedlinePlus Encyclopedia: Hypotonia - MedlinePlus Encyclopedia: Malignant Hyperthermia 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 prevalence of Lafora progressive myoclonus epilepsy is unknown. Although the condition occurs worldwide, it appears to be most common in Mediterranean countries (including Spain, France, and Italy), parts of Central Asia, India, Pakistan, North Africa, and the Middle East.
What causes microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)? Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) has been shown to be caused by mutations in the RNU4ATAC gene.
How might Dyggve-Melchior-Clausen syndrome be treated? Treatment of individuals with DMC syndrome depends on the affected person's symptoms and is usually supportive. There is no cure for this condition. Treatments might include spinal fusion of the segments of the spinal column at the top of the spine or other means of vertebral stabilization. Additional surgical techniques may be used to correct various skeletal abnormalities such as dislocation of the shoulder and hip joints. In some cases, hip replacement is required. Children with DMC syndrome may benefit from early intervention and special educational programs.
Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndrome. AR-HIES accounts for only a small minority of HIES cases, with about 130 affected families reported so far. In contrast to AD-HIES, the AR variant is further characterized by extreme hypereosinophilia (increase in the eosinophil count in the bloodstream); susceptibility to viral infections such as Herpes simplex and Molluscum contagiosum; involvement of the central nervous system; T-cell defects; and a high death rate. The dental, skeletal, connective tissue, and facial features present in AD-HIES are absent in AR-HIES. AR-HIES is inherited in an autosomal recessive fashion and is caused by mutations in the DOCK8 gene.
These resources address the diagnosis or management of Peters plus syndrome: - Gene Review: Gene Review: Peters Plus Syndrome - Genetic Testing Registry: Peters plus 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
A urea cycle disorder is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a compound called urea and removed from the blood. Normally, the urea is removed from the body through the urine. In urea cycle disorders, nitrogen builds up in the blood in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma and/or death. The onset and severity of urea cycle disorders is highly variable. The severity correlates with the amount of urea cycle enzyme function.
The overall prevalence of sialidosis is unknown. Sialidosis type I appears to be more common in people with Italian ancestry.
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.
The prognosis for any individual with Fahr's Syndrome is variable and hard to predict. There is no reliable correlation between age, extent of calcium deposits in the brain, and neurological deficit. Since the appearance of calcification is age-dependent, a CT scan could be negative in a gene carrier who is younger than the age of 55.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to ADEM in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure demyelinating disorders such as ADEM.
These resources address the diagnosis or management of hereditary hypophosphatemic rickets: - Gene Review: Gene Review: X-Linked Hypophosphatemia - Genetic Testing Registry: Autosomal dominant hypophosphatemic rickets - Genetic Testing Registry: Autosomal recessive hypophosphatemic bone disease - Genetic Testing Registry: Autosomal recessive hypophosphatemic vitamin D refractory rickets - Genetic Testing Registry: Familial X-linked hypophosphatemic vitamin D refractory rickets - Genetic Testing Registry: Hypophosphatemic rickets, autosomal recessive, 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
Central cord syndrome is the most common form of incomplete spinal cord injury characterized by impairment in the arms and hands and to a lesser extent in the legs. The brain's ability to send and receive signals to and from parts of the body below the site of injury is reduced but not entirely blocked. This syndrome is associated with damage to the large nerve fibers that carry information directly from the cerebral cortex to the spinal cord. These nerves are particularly important for hand and arm function. Symptoms may include paralysis or loss of fine control of movements in the arms and hands, with relatively less impairment of leg movements. Sensory loss below the site of the injury and loss of bladder control may also occur, as well as painful sensations such as tinging, burning, or dull ache. The overall amount and type of functional loss is dependent upon the severity of nerve damage. Central cord syndrome is usually the result of trauma that causes damage to the vertebrae in the neck or herniation of the vertebral discs. It also may develop in persons over the age of 50 due to gradual weakening of the vertebrae and discs, which narrows the spinal column and may contribute to compression of the spinal cord when the neck is hyper-extended.
Erythema nodosum (EN) is a skin condition in which red bumps (nodules) form on the shins. Less commonly, the nodules form on other areas of the body such as the thighs and forearms. The lesions begin as firm, hot, red, painful lumps and progress to a purplish color. EN is a type of inflammatory disorder affecting the layer of fat under the skin (panniculitis). Other symptoms that may accompany the skin findings include the following: fever, a general feeling of being ill. joint aches, and swelling of the affected area. In many cases, EN is presumed to be a delayed reaction to antigens associated with various infections, drugs, and certain systemic diseases. In many cases, however, EN has no identifiable cause (idiopathic); in these cases, clinical follow-up is needed to rule out certain conditions including inflammatory bowel disease, sarcoidosis, lymphoma, and Behcet's disease. Treatment may include rest, nonsteroidal anti-inflammatory drugs (NSAIDS), steroids, hot or cold compresses, potassium iodide solution, and supportive bandages or compression stockings. Symptoms usually resolve within six weeks, but EN may become a chronic disorder lasting for months and, occasionally, for years. Approximately 30% cases of idiopathic EN may last more than 6 months.
Researchers have not found that eating, diet, and nutrition play a role in causing or preventing Mntriers disease. In some cases, a health care provider may prescribe a high-protein diet to offset the loss of protein due to Mntriers disease. Some people with severe malnutrition may require IV nutrition, which is called total parenteral nutrition (TPN). TPN is a method of providing an IV liquid food mixture through a special tube in the chest.
Talk to other family members. You can also obtain a death certificate from a state or county vital statistics office to confirm a late relative's cause of death. Funeral homes and online obituaries may also have this information.
How is Hanhart syndrome treated? Because Hanhart syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies because it depends on the signs and symptoms present in each person. For example, limb and/or craniofacial abnormalities may be treated with surgery and/or prostheses. Affected children may also need speech therapy, physical therapy, and/or occupational therapy.
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.
Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). People with this duplication often have low muscle tone, poor feeding, and failure to thrive during infancy. They may also present with delayed development of motor and verbal milestones. In addition, many individuals display some behaviors commonly associated with autism spectrum disorders. While most cases of Potocki-Lupski syndrome occur sporadically, in rare cases, it may be inherited. Treatment involves physical, occupational, and speech therapy.
Septo-optic dysplasia is a disorder of early brain development. The signs and symptoms vary from person to person; however, underdevelopment (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia are the characteristic findings. Recurring seizures, delayed development, and abnormal movements may be present in some people with septo-optic dysplasia. Although the exact cause of septo-optic dysplasia is unknown, it is believed that both genetic and environmental factors play a role. Viruses, medications, and blood flow disruption have all been suggested as possible environmental causes. Thus far, three genes (HESX1, OTX2, and SOX2) have been associated with septo-optic dysplasia. Typically, people do not have a family history of septo-optic dysplasia. However, there have been a few cases in which multiple family members have been diagnosed. Familial cases may follow an autosomal recessive or autosomal dominant pattern of inheritance.
Hookworm is a soil-transmitted helminth (STH) and is one of the most common roundworm of humans. Infection is caused by the nematode parasites Necator americanus and Ancylostoma duodenale. Hookworm infections often occur in areas where human feces are used as fertilizer or where defecation onto soil happens. Geographic Distribution The geographic distributions of the hookworm species that are intestinal parasites in human, Ancylostoma duodenale and Necator americanus, are worldwide in areas with warm, moist climates and are widely overlapping. Necator americanus was widespread in the Southeastern United States until the early 20th century.
Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head." Infants with MCPH have an unusually small head circumference compared to other infants of the same sex and age. Head circumference is the distance around the widest part of the head, measured by placing a measuring tape above the eyebrows and ears and around the back of the head. Affected infants' brain volume is also smaller than usual, although they usually do not have any major abnormalities in the structure of the brain. The head and brain grow throughout childhood and adolescence, but they continue to be much smaller than normal. MCPH causes intellectual disability, which is typically mild to moderate and does not become more severe with age. Most affected individuals have delayed speech and language skills. Motor skills, such as sitting, standing, and walking, may also be mildly delayed. People with MCPH usually have few or no other features associated with the condition. Some have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. The condition typically does not affect any other major organ systems or cause other health problems.
Researchers have not found that eating, diet, and nutrition play a role in causing or preventing urinary retention.
Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double vision. People with this condition may experience sleep disorders such as restless leg syndrome or REM sleep behavior disorder. Restless leg syndrome is a condition characterized by numbness or tingling in the legs accompanied by an urge to move the legs to stop the sensations. REM sleep behavior disorder is a condition in which the muscles are active during the dream (REM) stage of sleep, so an affected person often acts out his or her dreams. These sleep disorders tend to leave affected individuals feeling tired during the day. Over time, individuals with SCA3 may develop loss of sensation and weakness in the limbs (peripheral neuropathy), muscle cramps, muscle twitches (fasciculations), and swallowing difficulties. Individuals with SCA3 may have problems with memory, planning, and problem solving. Signs and symptoms of the disorder typically begin in mid-adulthood but can appear anytime from childhood to late adulthood. People with SCA3 eventually require wheelchair assistance. They usually survive 10 to 20 years after symptoms first appear.
The exact prevalence of Li-Fraumeni is unknown. One U.S. registry of Li-Fraumeni syndrome patients suggests that about 400 people from 64 families have this disorder.
The prevalence of microvillus inclusion disease is unknown. At least 200 cases have been reported in Europe, although this condition occurs worldwide.
HSAN2 is a rare disease; however, the prevalence is unknown.
A stroke happens when part of your brain is not getting enough blood and stops working. Depending on the part of the brain that is damaged, a stroke can cause - sudden weakness or numbness of your face, arm, or leg on one side of your body - sudden confusion, trouble talking, or trouble understanding - sudden dizziness, loss of balance, or trouble walking - sudden trouble seeing in one or both eyes or sudden double vision - sudden severe headache Sometimes, one or more of these warning signs may happen and then disappear. You might be having a "mini-stroke," also called a TIA or a transient ischemic attack. If you have any of these warning signs, call 911 right away. Getting care for a TIA may reduce or prevent a stroke. Getting prompt treatment for a stroke can reduce the damage to the brain and improve chances for recovery.
Your salivary glands make saliva - sometimes called spit - and empty it into your mouth through openings called ducts. Saliva makes your food moist, which helps you chew and swallow. It helps you digest your food. It also cleans your mouth and contains antibodies that can kill germs. Problems with salivary glands can cause the glands to become irritated and swollen. This causes symptoms such as - Bad taste in the mouth - Difficulty opening your mouth - Dry mouth - Pain in the face or mouth - Swelling of the face or neck Causes of salivary gland problems include infections, obstruction or cancer. Problems can also be due to other disorders, such as mumps or Sjogren's syndrome.
Warm towels, hot packs, or a warm bath or shower can provide temporary pain relief. Medications such as non-steroidal anti-inflammatory drugs, or NSAIDs, help reduce pain and inflammation that result from osteoarthritis. A doctor or physical therapist can recommend if heat or cold is the best treatment. For osteoarthritis in the knee, wearing insoles or cushioned shoes may reduce joint stress.
How is isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) inherited? IBD deficiency 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.
Mutations in the TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 genes have been identified in people with Aicardi-Goutieres syndrome. The TREX1, RNASEH2A, RNASEH2B, and RNASEH2C genes provide instructions for making nucleases, which are enzymes that help break up molecules of DNA and its chemical cousin RNA. Mutations in any of these genes are believed to result in an absent or dysfunctional nuclease enzyme. Researchers suggest that absent or impaired enzyme function may result in the accumulation of unneeded DNA and RNA in cells. These DNA and RNA molecules or fragments may be generated during the first stage of protein production (transcription), copying (replication) of cells' genetic material in preparation for cell division, DNA repair, cell death, and other processes. The unneeded DNA and RNA may be mistaken by cells for that of viral invaders, triggering immune system reactions that result in encephalopathy, skin lesions, and other signs and symptoms of Aicardi-Goutieres syndrome. The SAMHD1 gene provides instructions for making a protein whose function is not well understood; however, it is believed to be involved in the immune system and the inflammatory process. Mutations in this gene likely result in a protein that does not function properly, resulting in immune system abnormalities, inflammatory damage to the brain and skin, and other characteristics of Aicardi-Goutieres syndrome.
Treatments for perineal injury vary with the severity and type of injury. Tears or incisions may require stitches. Traumatic or piercing injuries may require surgery to repair damaged pelvic floor muscles, blood vessels, and nerves. Treatment for these acute injuries may also include antibiotics to prevent infection. After a health care provider stabilizes an acute injury so blood loss is no longer a concern, a person may still face some long-term effects of the injury, such as bladder control and sexual function problems. A health care provider can treat high-flow priapism caused by a blunt injury to the perineum with medication, blockage of the burst blood vessel under x-ray guidance, or surgery. In people with a chronic perineal injury, a health care provider will treat the complications of the condition. More information is provided in the NIDDK health topics: - Erectile Dysfunction - Urinary Incontinence in Men More information about the lower urinary tract is provided in the NIDDK health topic, The Urinary Tract and How It Works.
The prognosis for the leukodystrophies varies according to the specific type of leukodystrophy.
Hailey-Hailey disease is a hereditary blistering skin disease. Signs and symptoms include a painful rash and blistering in skin folds such as the armpits, groin, neck, under the breasts, and between the buttocks. Secondary bacterial infections are not uncommon. Symptoms are often worse in summer months due to heat, sweating and friction. Hailey-Hailey disease is caused by mutations in the ATP2C1 gene and is inherited in an autosomal dominant manner. Treatment focuses on reducing symptoms and preventing flares.
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. Research funded by the NINDS focuses on better understanding how neurological defects arise in lipid storage disorders and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches. NINDS-funded preclinical research aims to study the effectiveness and safety of virus-based delivery of the normal ARSA gene to promote gene expression throughout the central nervous system and overcome the mutation-caused deficiency. If successful, the project could lead to trials in humans. Other research hopes to study the use of patient-specific induced pluripotent stem cells (cells that are capable of becoming other types of cells) in correcting the gene deficiency in metachromatic leukodystrophy.
The NINDS supports research on disorders that affect the brain, such as encephalitis lethargica, with the goal of finding ways to prevent and treat them. (The disease was the subject of the book and film, "Awakenings.")
What causes 22q11.2 deletion syndrome? 22q11.2 deletion syndrome is caused by a missing piece (deletion) of part of chromosome 22 in each cell. The deletion occurs near the middle of the chromosome at a location designated q11.2. Most people with 22q11.2 deletion syndrome are missing a piece of the chromosome that contains about 30 to 40 genes, many of which have not been well characterized. Some affected people have smaller deletions. Researchers are working to learn more about all of the genes that contribute to the features of 22q11.2 deletion syndrome. The deletion of a particular gene, TBX1, is probably responsible for many of the syndrome's characteristic signs (such as heart defects, a cleft palate, distinctive facial features, hearing loss, and low calcium levels). Loss of this gene may also contribute to behavioral problems. The loss of another gene, COMT, may also cause increased risk of behavioral problems and mental illness in affected people. The other genes that are deleted likely contribute to the various features of 22q11.2 deletion syndrome.
No effective cure currently exists for people with transverse myelitis. Physicians often prescribe corticosteroid therapy during the first few weeks of illness to decrease inflammation. Following initial therapy, the most critical part of the treatment for this disorder consists of keeping the patients body functioning while hoping for either complete or partial spontaneous recovery of the nervous system. If an individual begins to recover limb control, physical therapy begins to help improve muscle strength, coordination, and range of motion.
Common symptoms of leukemia may include - fevers - frequent infections - feeling weak or tired - headache - bleeding and bruising easily - pain in the bones or joints - swelling or discomfort in the abdomen (from an enlarged spleen) - swollen lymph nodes, especially in the neck or armpit - weight loss. fevers frequent infections feeling weak or tired headache bleeding and bruising easily pain in the bones or joints swelling or discomfort in the abdomen (from an enlarged spleen) swollen lymph nodes, especially in the neck or armpit weight loss. Symptoms of acute leukemia may include vomiting, confusion, loss of muscle control, and seizures.
What causes Turner syndrome? Turner syndrome is caused by partial or complete loss of one of the X chromosomes in cells of females. Females without Turner syndrome have 2 full X chromosome in all of their cells (and males have one X chromosome and one Y chromosome). The missing genetic material affects development before and after birth. Most females with Turner syndrome are missing a full X chromosome in all of their cells (also called monosomy X). This form results from a random error in an egg or sperm cell prior to conception. Some females with Turner syndrome have two X chromosomes, but one of them is missing a piece (has a deletion). Depending on the specific gene(s) that are missing, the features of Turner syndrome may result. A deletion may occur sporadically (not inherited) or may be inherited from a parent. Mosaic Turner syndrome (when some cells have one X chromosome and some have two sex chromosomes) is caused by a random error in early fetal development (shortly after conception). It is still unclear exactly which genes on the X chromosome are associated with each feature of Turner syndrome. It is known that the SHOX gene on the X chromosome is important for growth and bone development. A missing copy of this gene is thought to result in the short stature and skeletal abnormalities in many affected women.
These resources address the diagnosis or management of Wilson disease: - Gene Review: Gene Review: Wilson Disease - Genetic Testing Registry: Wilson's disease - MedlinePlus Encyclopedia: Wilson's disease - National Human Genome Research Institute 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 prevalence of juvenile primary osteoporosis is unknown. Nearly 1 in 10 adults over age 50 have osteoporosis, but the condition is uncommon in children. Osteoporosis can occur at a young age as a feature of other conditions but rarely occurs without other signs and symptoms (primary osteoporosis).
Susceptibility to intrahepatic cholestasis of pregnancy 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 the disorder. Some women with an altered gene do not develop intrahepatic cholestasis of pregnancy. Many other factors likely contribute to the risk of developing this complex disorder.
What causes acute febrile neutrophilic dermatosis? In many cases, the cause of acute febrile neutrophilic dermatosis is unknown (idiopathic). But sometimes, it can be a sign of an immune system response to one of the following: An upper respiratory tract infection, such as a chest infection or strep throat Blood disorders, especially acute myelogenous leukemia, a cancer of the blood and bone marrow Inflammatory bowel disease, such as ulcerative colitis or Crohn's disease Bowel or breast cancer Pregnancy Rheumatoid arthritis An injury at the site where the rash appears, such as an insect bite or needle prick Certain medications, including nonsteroidal anti-inflammatory drugs (NSAIDs)
Hyperferritinemia-cataract syndrome has been estimated to occur in 1 in 200,000 individuals.
Key Points - There is no standard staging system for central nervous system atypical teratoid/rhabdoid tumor. There is no standard staging system for central nervous system atypical teratoid/rhabdoid tumor. The extent or spread of cancer is usually described as stages. There is no standard staging system for central nervous system atypical teratoid/rhabdoid tumor. For treatment, this tumor is grouped as newly diagnosed or recurrent. Treatment depends on the following: - The age of the child. - How much cancer remains after surgery to remove the tumor. Results from the following procedure are also used to plan treatment: - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs, such as the kidney, and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. This procedure is done to check for tumors that may also have formed in the kidney.
The National Institute of Neurological Disorders and Stroke (NINDS) supports research related to Adult Refsum Disease through grants to major research institutions across the country. Research is focused on finding better ways to prevent, treat, and ultimately cure ARD and other peroxisomal disorders.
Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.
Having a long-term, or chronic, illness can disrupt your life in many ways. You may often be tired and in pain. Your illness might affect your appearance or your physical abilities and independence. You may not be able to work, causing financial problems. For children, chronic illnesses can be frightening, because they may not understand why this is happening to them. These changes can cause stress, anxiety and anger. If they do, it is important to seek help. A trained counselor can help you develop strategies to regain a feeling of control. Support groups might help, too. You will find that you are not alone, and you may learn some new tips on how to cope.
Summary : Military service members and veterans face some different health issues than civilians. During combat, the main health concerns are life-threatening injuries. These include - Shrapnel and gunshot wounds - Lost limbs - Head and brain injuries There may also be a risk of health problems from exposure to environmental hazards, such as contaminated water, chemicals, and infections. Being in combat and being separated from your family can be stressful. The stress can put service members and veterans at risk for mental health problems. These include anxiety, post-traumatic stress disorder, depression and substance abuse. Suicide can also be a concern.
These resources address the diagnosis or management of Wolf-Hirschhorn syndrome: - Gene Review: Gene Review: Wolf-Hirschhorn Syndrome - Genetic Testing Registry: 4p partial monosomy syndrome - MedlinePlus Encyclopedia: Epilepsy 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
Most people with neuroblastoma have sporadic neuroblastoma, meaning the condition arose from somatic mutations in the body's cells and was not inherited. About 1 to 2 percent of affected individuals have familial neuroblastoma. This form of the condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell increases the risk of developing the disorder. However, the inheritance is considered to have incomplete penetrance because not everyone who inherits the altered gene from a parent develops neuroblastoma. Having the altered gene predisposes an individual to develop neuroblastoma, but an additional somatic mutation is probably needed to cause the condition.
Signs and symptoms of chronic eosinophilic leukemia include fever and feeling very tired. Chronic eosinophilic leukemia may not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by chronic eosinophilic leukemia or by other conditions. Check with your doctor if you have any of the following: - Fever. - Feeling very tired. - Cough. - Swelling under the skin around the eyes and lips, in the throat, or on the hands and feet. - Muscle pain. - Itching. - Diarrhea.
Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. The ALDH7A1 gene provides instructions for making an enzyme called -aminoadipic semialdehyde (-AASA) dehydrogenase, also known as antiquitin. This enzyme is involved in the breakdown of the protein building block (amino acid) lysine in the brain. When antiquitin is deficient, a molecule that interferes with vitamin B6 function builds up in various tissues. Pyridoxine plays a role in many processes in the body, such as the breakdown of amino acids and the productions of chemicals that transmit signals in the brain (neurotransmitters). It is unclear how a lack of pyridoxine causes the seizures that are characteristic of this condition. Some individuals with pyridoxine-dependent epilepsy do not have identified mutations in the ALDH7A1 gene. In these cases, the cause of the condition is unknown.
Carney complex is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 80 percent of cases, an affected person inherits the mutation from one affected parent. The remaining cases result from new mutations in the gene and occur in people with no history of Carney complex in their family.
Food allergy is an abnormal response to a food triggered by your body's immune system. In adults, the foods that most often trigger allergic reactions include fish, shellfish, peanuts, and tree nuts, such as walnuts. Problem foods for children can include eggs, milk, peanuts, tree nuts, soy, and wheat. The allergic reaction may be mild. In rare cases it can cause a severe reaction called anaphylaxis. Symptoms of food allergy include - Itching or swelling in your mouth - Vomiting, diarrhea, or abdominal cramps and pain - Hives or eczema - Tightening of the throat and trouble breathing - Drop in blood pressure Your health care provider may use a detailed history, elimination diet, and skin and blood tests to diagnose a food allergy. When you have food allergies, you must be prepared to treat an accidental exposure. Wear a medical alert bracelet or necklace, and carry an auto-injector device containing epinephrine (adrenaline). You can only prevent the symptoms of food allergy by avoiding the food. After you and your health care provider have identified the foods to which you are sensitive, you must remove them from your diet. NIH: National Institute of Allergy and Infectious Diseases
Changes in the DNA near the SOX9 gene are the most common genetic cause of isolated Pierre Robin sequence. It is likely that changes in other genes, some of which have not been identified, also cause isolated Pierre Robin sequence. The SOX9 gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX9 protein regulates the activity of other genes, especially those that are important for development of the skeleton, including the mandible. The genetic changes associated with isolated Pierre Robin sequence occur near the SOX9 gene. These abnormalities are thought to disrupt regions of DNA called enhancers that normally regulate the activity of the SOX9 gene, reducing SOX9 gene activity. As a result, the SOX9 protein cannot properly control the genes essential for normal development of the lower jaw, causing micrognathia, and consequently, glossoptosis and cleft palate.
Horner syndrome is a disorder that affects the eye and surrounding tissues on one side of the face and results from paralysis of certain nerves. Horner syndrome can appear at any time of life; in about 5 percent of affected individuals, the disorder is present from birth (congenital). Horner syndrome is characterized by drooping of the upper eyelid (ptosis) on the affected side, a constricted pupil in the affected eye (miosis) resulting in unequal pupil size (anisocoria), and absent sweating (anhidrosis) on the affected side of the face. Sinking of the eye into its cavity (enophthalmos) and a bloodshot eye often occur in this disorder. In people with Horner syndrome that occurs before the age of 2, the colored part (iris) of the eyes may differ in color (iris heterochromia), with the iris of the affected eye being lighter in color than that of the unaffected eye. Individuals who develop Horner syndrome after age 2 do not generally have iris heterochromia. The abnormalities in the eye area related to Horner syndrome do not generally affect vision or health. However, the nerve damage that causes Horner syndrome may result from other health problems, some of which can be life-threatening.
What are the signs and symptoms of Testicular cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Testicular cancer. 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) Abnormality of metabolism/homeostasis - Cryptorchidism - Gonadal dysgenesis - Sporadic - Teratoma - 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.
For unknown reasons, in industrialized Western countries SLE has become 10 times more common over the past 50 years. While estimates of its prevalence vary, SLE is believed to affect 14.6 to 68 per 100,000 people in the United States, with females developing SLE more often than males. It is most common in younger women; however, 20 percent of SLE cases occur in people over age 50. Because many of the signs and symptoms of SLE resemble those of other disorders, diagnosis may be delayed for years, and the condition may never be diagnosed in some affected individuals. In industrialized Western countries, people of African and Asian descent are two to four times more likely to develop SLE than are people of European descent. However, while the prevalence of SLE in Africa and Asia is unknown, it is believed to be much lower than in Western nations. Researchers suggest that factors such as ethnic mixing, tobacco use in industrialized countries, and the different types of infections people acquire in different regions may help account for the discrepancy. For example malaria, which occurs often in tropical regions, is thought to be protective against SLE, while the Epstein-Barr virus, more common in the West, increases SLE risk.
The exact incidence of Russell-Silver syndrome is unknown, but the condition is estimated to affect 1 in 75,000 to 100,000 people.
How is mosaic trisomy 9 diagnosed? In some cases, mosaic trisomy 9 is diagnosed before birth. A pregnancy ultrasound may reveal signs and symptoms that are suggestive of a chromosomal or developmental disorder. Additional tests, such as chorionic villus sampling (CVS) or an amniocentesis, may be offered to further investigate these features. During a CVS, a tissue sample from a portion of the placenta is removed and analyzed, while amniocentesis involves the removal of a sample of fluid that surrounds the developing baby. In both tests, the fluid or tissue sample is used to obtain a picture of the baby's chromosomes, which is called a karyotype. This may reveal mosaic trisomy 9. In other cases, the child is not diagnosed until after birth. Mosaic trisomy 9 may be suspected after characteristic signs and symptoms are identified on physical exam. A diagnosis can be confirmed by examining the child's chromosomes from a sample of blood.
What are the signs and symptoms of postural orthostatic tachycardia syndrome? Postural orthostatic tachycardia syndrome (POTS) is primarily characterized by orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). Orthostatic Intolerance is generally associated with lightheadedness and/or fainting that is typically relieved by lying down again. In people with POTS, these symptoms are also accompanied by a rapid increase in heartbeat. Other symptoms reported in POTS include: Visual changes (i.e. blurry vision) Throbbing of the head Poor concentration Tiredness Gastrointestinal symptoms (i.e. nausea, cramps, bloating, constipation, diarrhea) Shortness of breath Head, neck and/or chest discomfort Weakness Sleep disorders Exercise intolerance Sweating Anxiety
Congenital diaphragmatic hernia affects approximately 1 in 2,500 newborns.
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.
Summary : A vegetarian diet focuses on plants for food. These include fruits, vegetables, dried beans and peas, grains, seeds and nuts. There is no single type of vegetarian diet. Instead, vegetarian eating patterns usually fall into the following groups: - The vegan diet, which excludes all meat and animal products - The lacto vegetarian diet, which includes plant foods plus dairy products - The lacto-ovo vegetarian diet, which includes both dairy products and eggs People who follow vegetarian diets can get all the nutrients they need. However, they must be careful to eat a wide variety of foods to meet their nutritional needs. Nutrients vegetarians may need to focus on include protein, iron, calcium, zinc and vitamin B12. United States Department of Agriculture
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.
Cockayne syndrome occurs in about 2 per million newborns in the United States and Europe.
Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It usually affects the central nervous system. In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizures,impaired intellectual development, behavior problems, and skin abnormalities. TSC may be present at birth, but signs of the disorder can be subtle and full symptoms may take some time to develop. Three types of brain tumors are associated with TSC: cortical tubers, which generally form on the surface of the brain; subependymal nodules, which form in the walls of the ventricles (the fluid-filled cavities of the brain); and giant-cell astrocytomas, a type of tumor that can block the flow of fluids within the brain.
Juvenile myoclonic epilepsy affects an estimated 1 in 1,000 people worldwide. Approximately 5 percent of people with epilepsy have juvenile myoclonic epilepsy.
How might fibrodysplasia ossificans progressiva be treated? There is currently no definitive treatment. However, a brief course of high-dose corticosteroids, such as Prednisone, started within the first 24 hours of a flare-up, may help reduce the intense inflammation and tissue swelling seen in the early stages of fibrodysplasia ossificans progressiva. Other medications, such as muscle relaxants, mast cell inhibitors, and aminobisphosphonates, if appropriate, should be closely monitored by a physician. Surgery to remove heterotopic and extra-skeletal bone is risky and can potentially cause painful new bone growth.
These resources address the diagnosis or management of familial lipoprotein lipase deficiency: - Gene Review: Gene Review: Familial Lipoprotein Lipase Deficiency - Genetic Testing Registry: Hyperlipoproteinemia, type I - MedlinePlus Encyclopedia: Chylomicronemia Syndrome - MedlinePlus Encyclopedia: Familial Lipoprotein Lipase 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
How is Brody disease diagnosed? Brody disease is suspected in people with the characteristic symptoms of this disorder (e.g., peudomyotonia, myoglobinuria etc...). In addition, people with this disease may have normal or slightly elevated creatine kinase levels. Click here to learn more about creatine kinase testing. A careful evaluation of muscle tissue samples obtained from muscle biopsy shows type 2 A and B atrophy with angulated fibers. Also, biochemical and immunological testing of the activity of certain proteins in the cell (i.e., sarcoplasmic reticulum Ca ATPase) can also help confirm the diagnosis.
These resources address the diagnosis or management of epidermal nevus: - Genetic Testing Registry: Epidermal nevus 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
Iodine is an essential mineral for the thyroid. However, people with Hashimotos disease may be sensitive to harmful side effects from iodine. Taking iodine drops or eating foods containing large amounts of iodinesuch as seaweed, dulse, or kelpmay cause or worsen hypothyroidism. Read more in Iodine in diet at www.nlm.nih.gov/medlineplus/ency/article/002421.htm. Women need more iodine when they are pregnantabout 220 micrograms a daybecause the baby gets iodine from the mothers diet. Women who are breastfeeding need about 290 micrograms a day. In the United States, about 7 percent of pregnant women may not get enough iodine in their diet or through prenatal vitamins.3 Pregnant women should choose iodized saltsalt supplemented with iodineover plain salt and take prenatal vitamins containing iodine to ensure this need is met. To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of dietary supplements such as iodine, with their health care provider. Tips for talking with health care providers are available through the National Center for Complementary and Integrative Health.
The precise incidence of this condition is unknown. It is estimated to affect 1 to 3 per million people worldwide.
These resources address the diagnosis or management of Hirschsprung disease: - Cedars-Sinai: Treating Hirschsprung's Disease (Colonic Aganglionosis) - Gene Review: Gene Review: Hirschsprung Disease Overview - Genetic Testing Registry: Hirschsprung disease 1 - Genetic Testing Registry: Hirschsprung disease 2 - Genetic Testing Registry: Hirschsprung disease 3 - Genetic Testing Registry: Hirschsprung disease 4 - North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition: Hirschsprung's Disease - Seattle Children's: Hirschsprung's Disease: Symptoms and Diagnosis 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 Spinocerebellar ataxia autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Autosomal recessive inheritance - Blindness - Cochlear degeneration - Hearing impairment - 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 is Cowden syndrome inherited? Cowden syndrome is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with Cowden syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
The cause of MRKH syndrome is unknown, although it probably results from a combination of genetic and environmental factors. Researchers have not identified any genes associated with MRKH syndrome. The reproductive abnormalities of MRKH syndrome are due to incomplete development of the Mllerian duct. This structure in the embryo develops into the uterus, fallopian tubes, cervix, and the upper part of the vagina. The cause of the abnormal development of the Mllerian duct in affected individuals is unknown. Originally, researchers believed that MRKH syndrome was caused by something the fetus was exposed to during pregnancy, such as a medication or maternal illness. However, studies have not identified an association with maternal drug use, illness, or other factors. It is also unclear why some affected individuals have abnormalities in parts of the body other than the reproductive system.
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. Risk factors for LCH include the following: - Having a parent who was exposed to certain chemicals such as benzene. - Having a parent who was exposed to metal, granite, or wood dust in the workplace. - A family history of cancer, including LCH. - Having infections as a newborn. - Having a personal history or family history of thyroid disease. - Smoking, especially in young adults. - Being Hispanic.
Most cases of trisomy 13 result from having three copies of chromosome 13 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 13. Trisomy 13 can also occur when part of chromosome 13 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in fetal development. Affected people have two normal copies of chromosome 13, plus an extra copy of chromosome 13 attached to another chromosome. In rare cases, only part of chromosome 13 is present in three copies. The physical signs and symptoms in these cases may be different than those found in full trisomy 13. A small percentage of people with trisomy 13 have an extra copy of chromosome 13 in only some of the body's cells. In these people, the condition is called mosaic trisomy 13. The severity of mosaic trisomy 13 depends on the type and number of cells that have the extra chromosome. The physical features of mosaic trisomy 13 are often milder than those of full trisomy 13.
Sodium is found in salt and other foods. Most canned foods and frozen dinners contain large amounts of sodium. Too much sodium makes you thirsty. But if you drink more fluid, your heart has to work harder to pump the fluid through your body. Over time, this can cause high blood pressure and congestive heart failure. Try to eat fresh foods that are naturally low in sodium Look for products labeled low sodium. Do not use salt substitutes because they contain potassium. Talk with a dietitian about spices you can use to flavor your food. The dietitian can help you find spice blends without sodium or potassium. Talk With a Dietitian Talk with a dietitian about spices and other healthy foods you can use to flavor your diet. List them on the lines below. Spice: _____________________________ Spice: _____________________________ Spice: _____________________________ Food: _____________________________ Food: _____________________________
What causes adenoid cystic carcinoma? The underlying cause of adenoid cystic carcinoma (ACC) is not yet known, and no strong genetic or environmental risk factors specific to ACC have been identified. Researchers believe that a combination of various genetic and environmental factors probably interact to ultimately cause a person to develop specific types of cancers. There is ongoing research to learn more about the many factors that contribute to the development of cancer. Cancer is at least partly due to acquired (not inherited) damage or changes to the DNA in certain cells. For example, various studies have shown that chromosomal abnormalities and genetic deletions are present in samples of ACC. However, these genetic abnormalities are present only in the cancer cells, not in the cells with the genetic material that is passed on to offspring (the egg and sperm cells).
How might valinemia be treated? Due to the rarity of valinemia, information about treatment in the medical literature is very limited. A diet low in valine introduced during early infancy is thought to improve symptoms of the condition and lower valine concentrations in the blood to normal levels.
NBIA is a progressive condition. Most individuals experience periods of rapid decline lasting weeks to months, with relatively stable periods in between. The rate of progression correlates with the age at onset, meaning that children with early symptoms tend to fare more poorly. For those with early onset, dystonia and spasticity can eventually limit the ability to walk, usually leading to use of a wheelchair by the midteens. Life expectancy is variable, although premature death does occur in NBIA. Premature death usually occurs due to secondary complications such as impaired swallowing or confinement to a bed or wheelchair, which can lead to poor nutrition or aspiration pneumonia. With improved medical care, however, a greater number of affected individuals reach adulthood. For those with atypical, late-onset NBIA, many are diagnosed as adults and live well into adulthood.
GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death. In GRACILE syndrome, growth before birth is slow (intrauterine growth retardation). Affected newborns are smaller than average and have an inability to grow and gain weight at the expected rate (failure to thrive). A characteristic of GRACILE syndrome is excess iron in the liver, which likely begins before birth. Iron levels may begin to improve after birth, although they typically remain elevated. Within the first day of life, infants with GRACILE syndrome have a buildup of a chemical called lactic acid in the body (lactic acidosis). They also have kidney problems that lead to an excess of molecules called amino acids in the urine (aminoaciduria). Babies with GRACILE syndrome have cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis) in the first few months of life. Because of the severe health problems caused by GRACILE syndrome, infants with this condition do not survive for more than a few months, and about half die within a few days of birth.
EA/TEF occurs in 1 in 3,000 to 5,000 newborns.
Obstructive sleep apnea is a common condition. About half of the people who have this condition are overweight. Men are more likely than women to have sleep apnea. Although the condition can occur at any age, the risk increases as you get older. A family history of sleep apnea also increases your risk for the condition. People who have small airways in their noses, throats, or mouths are more likely to have sleep apnea. Small airways might be due to the shape of these structures or allergies or other conditions that cause congestion. Small children might have enlarged tonsil tissues in their throats. Enlarged tonsil tissues raise a childs risk for sleep apnea. Overweight children also might be at increased risk for sleep apnea. About half of the people who have sleep apnea also have high blood pressure. Sleep apnea also is linked to smoking, metabolic syndrome, diabetes, and risk factors for stroke and heart failure. Race and ethnicity might play a role in the risk of developing sleep apnea. However, more research is needed.
Dumping syndrome is caused by problems with the storage of food particles in the stomach and emptying of particles into the duodenum. Early dumping syndrome results from rapid movement of fluid into the intestine following a sudden addition of a large amount of food from the stomach. Late dumping syndrome results from rapid movement of sugar into the intestine, which raises the body's blood glucose level and causes the pancreas to increase its release of the hormone insulin. The increased release of insulin causes a rapid drop in blood glucose levels, a condition known as hypoglycemia, or low blood sugar.
Mutations in at least four genes are known to cause spondylocostal dysostosis: Mutations in the DLL3 gene cause spondylocostal dysostosis type 1; mutations in the MESP2 gene cause spondylocostal dysostosis type 2; mutations in the LFNG gene cause spondylocostal dysostosis type 3; and mutations in the HES7 gene cause spondylocostal dysostosis type 4. The genetic cause of AD spondylocostal dysostosis is unknown. The DLL3, MESP2, LFNG, and HES7 genes play a role in the Notch signaling pathway, an important pathway in embryonic development. One of the functions of the Notch pathway is separating future vertebrae from one another during early development, a process called somite segmentation. When this pathway is disrupted, somite segmentation does not occur properly, resulting in the malformation and fusion of the bones of the spine and ribs seen in spondylocostal dysostosis. Mutations in the four identified genes account for approximately 25 percent of diagnosed spondylocostal dysostosis. Researchers suggest that additional genes in the Notch signaling pathway might also be involved.
These resources address the diagnosis or management of MERRF: - Gene Review: Gene Review: MERRF - Genetic Testing Registry: Myoclonus with epilepsy with ragged red fibers - Kennedy Krieger Institute: Mitochondrial Disorders - MedlinePlus Encyclopedia: Lipoma - MedlinePlus Encyclopedia: Optic nerve atrophy - MedlinePlus Encyclopedia: Peripheral Neuropathy - MitoAction: Tips and Tools for Living with Mito - United Mitochondrial Disease Foundation: Treatments and Therapies 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 Klinefelter syndrome? Klinefelter syndrome usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have one or more extra X chromosomes in each of the body's cells. Most often, Klinefelter syndrome is caused by a single extra copy of the X chromosome, resulting in a total of 47 chromosomes per cell. Males normally have one X chromosome and one Y chromosome in each cell (46, XY), while females have two X chromosomes (46, XX). People with Klinefelter syndrome usually have two X chromosomes and one Y chromosome (47, XXY). Some people with Klinefelter syndrome have the extra X chromosome in only some of their cells; these people are said to have mosaic Klinefelter syndrome. It is estimated that about half of the time, the cell division error occurs during development of the sperm, while the remainder are due to errors in egg development. Women who have pregnancies after age 35 have a slightly increased chance of having offspring with this syndrome. The features of Klinefelter syndrome are due to the extra copies of genes on the extra X chromosome, which can alter male sexual development.
About 30 individuals with this condition have been identified worldwide, mostly in Mediterranean and Arab populations. Although ethylmalonic encephalopathy appears to be very rare, researchers suggest that some cases have been misdiagnosed as other neurologic disorders.
What are the signs and symptoms of Syringoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Syringoma. 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) Abnormality of the skin - Autosomal dominant inheritance - 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.
The prevalence of TK2-MDS is unknown. Approximately 45 cases have been described.
Birt-Hogg-Dub syndrome is rare; its exact incidence is unknown. This condition has been reported in more than 400 families.
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.