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Gnathodiaphyseal dysplasia is caused by mutations in the ANO5 gene, which provides instructions for making a protein called anoctamin-5. While the specific function of this protein is not well understood, it belongs to a family of proteins, called anoctamins, that act as chloride channels. Studies suggest that most ano...
Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddli...
Wearing shoes and taking other protective measures to avoid skin contact with sand or soil will prevent infection with zoonotic hookworms. Travelers to tropical and subtropical climates, especially where beach exposures are likely, should be advised to wear shoes and use protective mats or other coverings to prevent di...
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.
How might FG syndrome be treated? Treatment is aimed at addressing the individual symptoms present in each case. This often involves care by a team of providers which may include pediatricians, neurologists, cardiologists, surgeons, gastroenterologists, and psychologists. Early intervention and special education servic...
HNSCC is caused by a variety of factors that can alter the DNA in cells. The strongest risk factors for developing this form of cancer are tobacco use (including smoking or using chewing tobacco) and heavy alcohol consumption. In addition, studies have shown that infection with certain strains of human papillomavirus (...
These resources address the diagnosis or management of hand-foot-genital syndrome: - Gene Review: Gene Review: Hand-Foot-Genital Syndrome - Genetic Testing Registry: Hand foot uterus syndrome - MedlinePlus Encyclopedia: Hypospadias - MedlinePlus Encyclopedia: Urinary Tract Infection These resources from MedlinePl...
Post-polio syndrome (PPS) is a condition that affects polio survivors many years after recovery from an initial attack of the poliomyelitis virus. PPS is characterized by a further weakening of muscles that were previously affected by the polio infection. The most common symptoms include slowly progressive muscle weakn...
How is Charcot-Marie-Tooth disease type 2F inherited? Charcot-Marie-Tooth disease type 2F is inherited in an autosomal dominant manner. This means that only one mutated copy of the gene in each cell is sufficient to cause the condition. Most affected individuals inherit the mutated gene from an affected parent, but in ...
Norrie disease is a rare disorder; its exact incidence is unknown. It is not associated with any specific racial or ethnic group.
With treatment, muscle weakness may improve or be reversed.
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. In rare cases, an individual with Huntington disease does not have a parent with the dis...
The causes of Moebius syndrome are unknown, although the condition probably results from a combination of environmental and genetic factors. Researchers are working to identify and describe specific genes related to this condition. The disorder appears to be associated with changes in particular regions of chromosomes ...
How might cold urticaria be treated? The treatment of cold urticaria generally consists of patient education, avoiding scenarios that may trigger a reaction (i.e. cold temperatures, cold water), and/or medications. Prophylactic treatment with high-dose antihistimines may be recommended when exposure to cold is expected...
In adults, many of the symptoms diminish over time. Although it has been suggested that in children symptoms may diminish over time, it appears likely that most children probably do not overcome their deficits, but learn to adjust to them.
How might myoepithelial carcinoma be treated? The treatment for metastatic myoepithelial carcinoma usually begins with surgery to remove the main tumor. Radiation therapy can be used to reduce the chance that the tumor could return in the same location. Recent studies have shown that neutron-based radiation therapy m...
How might aspergillosis be treated? If the infection is widespread or the person appears seriously ill, treatment is started immediately. Voriconazole is currently first-line treatment for invasive aspergillosis and is usually given intravenously. There are other antifungal drugs that can be used to treat invasive aspe...
These resources address the diagnosis or management of spastic paraplegia type 31: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Genetic Testing Registry: Spastic paraplegia 31, autosomal dominant - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlu...
Mutations in many genes can cause congenital myasthenic syndrome. Mutations in the CHRNE gene are responsible for more than half of all cases. A large number of cases are also caused by mutations in the RAPSN, CHAT, COLQ, and DOK7 genes. All of these genes provide instructions for producing proteins that are involved i...
Tests and procedures that examine the skin are used to detect (find) and diagnose Merkel cell carcinoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else t...
Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum. ...
In the United States, the estimated incidence of MCAD deficiency is 1 in 17,000 people. The condition is more common in people of northern European ancestry than in other ethnic groups.
The NINDS supports an extensive research program on stroke and conditions that can lead to stroke. Much of this research is aimed at finding ways to prevent and treat conditions such as cerebral arteriosclerosis.
Signs and symptoms of hypopharyngeal cancer include a sore throat and ear pain. These and other signs and symptoms may be caused by hypopharyngeal cancer or by other conditions. Check with your doctor if you have any of the following: - A sore throat that does not go away. - Ear pain. - A lump in the neck...
The exact prevalence of epidermolysis bullosa simplex is unknown, but this condition is estimated to affect 1 in 30,000 to 50,000 people. The localized type is the most common form of the condition.
Within the NINDS research programs, arachnoiditis is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as arachnoiditis.
The prevalence of spastic paraplegia type 4 is estimated to be 2 to 6 in 100,000 people worldwide.
Signs and symptoms of small intestine cancer include unexplained weight loss and abdominal pain. These and other signs and symptoms may be caused by small intestine cancer or by other conditions. Check with your doctor if you have any of the following: - Pain or cramps in the middle of the abdomen. - Weight...
X-linked adrenoleukodystrophy is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the ABCD1 gene in each cell is su...
Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by short stature (dwarfism), skeletal abnormalities and an unusually small head size (microcephaly). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened...
What causes Von Hippel-Lindau disease? Von Hippel-Lindau (VHL) disease is caused by a mutation in the VHL gene. This gene is a tumor suppressor gene, which helps to control cell growth. Mutations in the VHL gene lead to a lack of regulation of cell growth and survival, allowing cells to grow and divide uncontrollably, ...
Nonseminomatous germ cell tumors are cancerous tumors commonly found in the pineal gland in the brain, in the mediastinum, or in the abdomen. They originate from cells that were meant to form sex cells (i.e., sperm or eggs). They are often large and have a tendency to spread more quickly than the other type of germ cel...
How might myxopapillary ependymoma be treated? Standard treatment of myxopapillary ependymoma is surgery with the aim of removing as much of the tumor as possible. This tumor type may be cured if all of the tumor is removed during surgery, which is referred to as total resection, and there is usually a favorable outloo...
What causes a 15q11.2 microdeletion? A 15q11.2 microdeletion may occur randomly for the first time in an affected person (a de novo mutation), or it may be inherited from a parent with the microdeletion. A blood test to look at the parents' chromosomes is needed to find out how the microdeletion occurred. When a 15q11....
SHORT syndrome results from mutations in the PIK3R1 gene. This gene provides instructions for making one part (subunit) of an enzyme called PI3K, which plays a role in chemical signaling within cells. PI3K signaling is important for many cell activities, including cell growth and division, movement (migration) of cells...
Although Laing distal myopathy is thought to be rare, its prevalence is unknown. Several families with the condition have been identified worldwide.
Laryngomalacia is an abnormality of the cartilage of the voice box (larynx) that is present at birth. The condition is characterized by "floppy" cartilage collapsing over the larynx when air is drawn into the lungs (inspiration), leading to airway obstruction. This obstruction causes a noise which may sound like nasal ...
Summary : Your diet is made up of what you eat. A healthy diet - May include fruits, vegetables, whole grains, and fat-free or low-fat milk and milk products - May include lean meats, poultry, fish, beans, eggs and nuts - Goes easy on saturated fats, trans fat, cholesterol, salt (sodium), and added sugars ...
Lowe syndrome is an uncommon condition. It has an estimated prevalence of 1 in 500,000 people.
As its name suggests, VLDLR-associated cerebellar hypoplasia results from mutations in the VLDLR gene. This gene provides instructions for making a protein called a very low density lipoprotein (VLDL) receptor. Starting before birth, this protein plays a critical role in guiding the movement of developing nerve cells t...
Mutations in the NEU1 gene cause sialidosis. This gene provides instructions for making an enzyme called neuraminidase 1 (NEU1), which is found in lysosomes. Lysosomes are compartments within the cell that use enzymes to digest and recycle materials. The NEU1 enzyme helps break down large sugar molecules attached to ce...
Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. Symptoms vary, depending on where the tumors grow. They could include - Skin problems, such as light patches and thickened skin - Seizures - Behavior problems - Intellectual disabilities - Kid...
The ovaries are part of the female reproductive system. They produce a woman's eggs and female hormones. Each ovary is about the size and shape of an almond. Cancer of the ovary is not common, but it causes more deaths than other female reproductive cancers. The sooner ovarian cancer is found and treated, the better...
Merkel cell carcinoma usually appears as a single painless lump on sun-exposed skin. This and other changes in the skin may be caused by Merkel cell carcinoma or by other conditions. Check with your doctor if you see changes in your skin. Merkel cell carcinoma usually appears on sun-exposed skin as a single lump that...
Depending upon the severity of symptoms, children may require chest physiotherapy and treatment for respiratory complications. To ensure adequate nutrition and caloric intake, some infants may require special accommodations for diet and feeding. Seizures may be managed with standard anticonvulsant medications. Children...
How is fatal familial insomnia inherited? Fatal familial insomnia (FFI) 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....
The prognosis for individuals with orthostatic hypotension depends on the underlying cause of the condition.
These resources address the diagnosis or management of leukoencephalopathy with vanishing white matter: - Gene Review: Gene Review: Childhood Ataxia with Central Nervous System Hypomelination/Vanishing White Matter - Genetic Testing Registry: Leukoencephalopathy with vanishing white matter These resources from Medl...
Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to brea...
How might spinocerebellar ataxia 2 be treated? Treatment of spinocerebellar ataxia 2 (SCA2) is supportive and aims to help the affected person maintain their independence and avoid injury. It is recommended that people with SCA2 remain physically active, maintain a healthy weight, use adaptive equipment as needed, and ...
Snyder-Robinson syndrome results from mutations in the SMS gene. This gene provides instructions for making an enzyme called spermine synthase. This enzyme is involved in the production of spermine, which is a type of small molecule called a polyamine. Polyamines have many critical functions within cells. Studies sugge...
Cardiofaciocutaneous syndrome is a very rare condition whose incidence is unknown. Researchers estimate that 200 to 300 people worldwide have this condition.
What are the signs and symptoms of Hyperlipidemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipidemia type 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 D...
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.
Chromosome 3p- syndrome is a rare chromosome abnormality that occurs when there is a missing copy of the genetic material located towards the end of the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the exact size and location of the deletion and which genes are invol...
These resources address the diagnosis or management of chylomicron retention disease: - Genetic Testing Registry: Chylomicron retention disease - MedlinePlus Encyclopedia: Malabsorption These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic ...
LCH is a rare condition, although its prevalence is unknown.
CJD does not cause the same symptoms in everyone. In most people who got CJD from pituitary hGH, the first signs they noticed were difficulty with walking and balance, dizziness, and/or clumsiness. Later, some began to slur words and have jerky movements. They also had trouble seeing, remembering, and/or thinking clear...
The urinary tract is the body's drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are a pair of bean-shaped organs, each about the size of a fist and located below the ribs, one on each side of the spine, toward the middle of ...
Familial paroxysmal kinesigenic dyskinesia is estimated to occur in 1 in 150,000 individuals. For unknown reasons, this condition affects more males than females.
Mutations in the FUCA1 gene cause fucosidosis. The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. This enzyme plays a role in the breakdown of complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) and fats (glycolipids). Alpha-L-fucosidase is resp...
Sprengel deformity is a congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula). Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing. Signs and symptoms may include a ...
Most desmoid tumors are sporadic and are not inherited. Sporadic tumors result from gene mutations that occur during a person's lifetime, called somatic mutations. A somatic mutation in one copy of the gene is sufficient to cause the disorder. Somatic mutations in either the CTNNB1 or the APC gene can cause sporadic de...
These resources address the diagnosis or management of trisomy 18: - Genetic Testing Registry: Complete trisomy 18 syndrome - MedlinePlus Encyclopedia: Trisomy 18 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ...
Prediabetes means your blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. In 2012, about 86 million people in the U.S. had prediabetes, and 51% of those 65 or older had prediabetes. People with prediabetes are at an increased risk for developing type 2 diabetes and for heart di...
How might Bartter syndrome be treated? Treatment of Bartter syndrome depends on the type of the syndrome that the affected individual has, but it primarily focuses on preventing the loss of too much of potassium from the body. This may include oral potassium (K) supplements, medication such as indomethacin, and potassi...
Lysinuric protein intolerance is estimated to occur in 1 in 60,000 newborns in Finland and 1 in 57,000 newborns in Japan. Outside these populations this condition occurs less frequently, but the exact incidence is unknown.
How might pigmented villonodular synovitis be treated? Pigmented villonodular synovitis is first treated with surgery to remove as much of the abnormal tissue growth as possible. The type of surgery depends on the location and extent of the disease within the joint. Radiation therapy is sometimes used to treat this c...
Ligneous conjunctivitis is a rare disorder characterized by the buildup of a protein called fibrin which causes inflammation of the conjunctiva (conjunctivitis) and leads to thick, woody (ligneous), inflamed growths that are yellow, white, or red. Ligneous conjunctivitis most often occurs on the inside of the eyelids, ...
The National Eye Institute, or NEI, is conducting and supporting research that seeks better ways to detect, treat, and prevent vision loss in people with diabetes. This research is conducted through studies in the laboratory and with patients. For example, researchers are studying drugs for the treatment of proliferati...
In the United States, about 140,000 new cases of colorectal cancer are diagnosed each year. Approximately 3 to 5 percent of these cancers are caused by Lynch syndrome.
What are the signs and symptoms of Non 24 hour sleep wake disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Non 24 hour sleep wake disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M...
Acquired hemophilia A is a bleeding disorder that interferes with the body's blood clotting process. Although the condition can affect people of all ages, it generally occurs in older people (the median age of diagnosis is between 60 and 67 years). Signs and symptoms include prolonged bleeding, frequent nosebleeds, bru...
How might pantothenate kinase-associated neurodegeneration (PKAN) be treated? Currently there is no cure for this condition. Treatment consists of medications and surgery to relieve symptoms. For many of the treatments that do improve symptoms, the period of benefit is limited. Baclofen and trihexyphenidyl remain the m...
What are the signs and symptoms of intravenous leiomyomatosis? IVL most often does not cause detectable signs or symptoms. In fact, they may be found by chance during surgery. When symptoms do arise, they can include abnormal uterine bleeding, lower abdominal tenderness, ad venous thrombosis. When IVL in the uterus is ...
Is Wolff-Parkinson-White syndrome inherited?
Amyloidosis is a rare disease that occurs when amyloid proteins are deposited in tissues and organs. Amyloid proteins are abnormal proteins that the body cannot break down and recycle, as it does with normal proteins. When amyloid proteins clump together, they form amyloid deposits. The buildup of these deposits damage...
Meningococci are a type of bacteria that cause serious infections. The most common infection is meningitis, which is an inflammation of the thin tissue that surrounds the brain and spinal cord. Meningococci can also cause other problems, including a serious bloodstream infection called sepsis. Meningococcal infectio...
Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. Without treatment, the extreme hunger continues and leads to chronic excessive eating (hyperphagia...
Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy. During these fever episodes, people with mevalonic aciduria may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, di...
In most cases of BEB the treatment of choice is botulinum toxin injections which relax the muscles and stop the spasms. Other treatment options include medications (drug therapy) or surgery--either local surgery of the eye muscles or deep brain stimulation surgery.
Factor V deficiency is an inherited blood disorder that involves abnormal blood clotting (coagulation). This disorder is caused by the deficiency of a blood protein called factor V. The reduced amount of factor V leads to episodes of abnormal bleeding that range from mild to severe. Factor V deficiency is inherited in ...
Eat a high-fiber diet to help prevent problems. Talk to your doctor about using fiber products like Benefiber, Citrucel, or Metamucil. Daily use can help you get the fiber you need if you do not get it through your diet. Ask your doctor about which food choices are right for you. Eatin...
Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body. It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper ...
Summary : People in the U.S. are living longer than ever before. Many seniors live active and healthy lives. But there's no getting around one thing: as we age, our bodies and minds change. There are things you can do to stay healthy and active as you age: - Eat a balanced diet - Keep your mind and body active...
Dravet syndrome is a severe form of epilepsy. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists...
These resources address the diagnosis or management of Amish lethal microcephaly: - Gene Review: Gene Review: Amish Lethal Microcephaly - Genetic Testing Registry: Amish lethal microcephaly - MedlinePlus Encyclopedia: Microcephaly These resources from MedlinePlus offer information about the diagnosis and managemen...
Metaplastic carcinoma of the breast is a rare form of breast cancer. The tumor cells differ in type from that of the typical ductal or lobular breast cancers. The cells look like skin cells or cells that make bone. Some women experience no early signs or symptoms, while others experience general symptoms of breast canc...
How is congenital adrenal hyperplasia inherited? All forms of congenital adrenal hyperplasia (CAH) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one m...
Everyone feels stressed from time to time. Not all stress is bad. All animals have a stress response, and it can be life-saving. But chronic stress can cause both physical and mental harm. There are at least three different types of stress: - Routine stress related to the pressures of work, family, and other d...
Simple kidney cysts usually do not cause symptoms or harm the kidneys. In some cases, however, pain can occur between the ribs and hips when cysts enlarge and press on other organs. Sometimes cysts become infected, causing fever, pain, and tenderness. Simple kidney cysts are not thought to affect kidney function, but o...
What are the signs and symptoms of Sudden infant death syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sudden infant death syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline...
Muckle-Wells syndrome is a rare disorder. It has been reported in many regions of the world, but its prevalence is unknown.
The most common treatment for Leigh's disease is thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may also be prescribed to manage lactic acidosis. Researchers are currently testing dichloroacetate to establish its effectiveness in treating lactic acidosis. In individuals who have the X-linked form of ...
Mutations in the ADAMTS13 gene cause the familial form of thrombotic thrombocytopenic purpura. The ADAMTS13 gene provides instructions for making an enzyme that is involved in the normal process of blood clotting. Mutations in this gene lead to a severe reduction in the activity of this enzyme. The acquired form of thr...
What causes Omenn syndrome? Omenn syndrome is a genetically heterogeneous condition (meaning that it may be caused by a number of different genes). While most cases are attributed to mutations in the RAG genes (RAG-1 and RAG2 genes have been mapped to chromosome band 11p13), recent reports describe Omenn syndrome in th...
Latex is a milky fluid that comes from the tropical rubber tree. Hundreds of everyday products contain latex. Repeated exposure to a protein in natural latex can make you more likely to develop a latex allergy. If your immune system detects the protein, a reaction can start in minutes. You could get a rash or asthma. I...
The uterus, or womb, is the place where a baby grows when a woman is pregnant. If you have an ectopic pregnancy, the fertilized egg grows in the wrong place, outside the uterus, usually in the fallopian tubes. The result is usually a miscarriage. Ectopic pregnancy can be a medical emergency if it ruptures. Signs of ...
Alpha-1 antitrypsin deficiency (AAT deficiency) is an inherited condition that raises your risk for lung and liver disease. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver makes it. If the AAT proteins aren't the right shape, they get stuck in the liver cells and can't reach the lungs. Symp...
The exact incidence of Moebius syndrome is unknown. Researchers estimate that the condition affects 1 in 50,000 to 1 in 500,000 newborns.