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What are the treatments for Clear cell renal cell carcinoma ? | What treatments for metastatic clear cell renal cell carcinoma are available in North America? There are several treatments for metastatic clear cell renal cell carcinoma available in North America. IL-2 and sunitinib - as well as the medications temsirolimus, bevacizumab with interferon therapy, pazopanib, and sorafe... |
What are the symptoms of Amyloidosis familial visceral ? | What are the signs and symptoms of Amyloidosis familial visceral? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis familial visceral. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... |
What is (are) Congenital dyserythropoietic anemia type 2 ? | Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallsto... |
What are the symptoms of Congenital dyserythropoietic anemia type 2 ? | What are the signs and symptoms of Congenital dyserythropoietic anemia type 2? The signs and symptoms of CDA II include jaundice, gallstones and an enlarged liver and spleen. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can ... |
What are the treatments for Congenital dyserythropoietic anemia type 2 ? | How might congenital dyserythropoietic anemia (CDA) type 2 be treated? The goal of CDA type 2 treatment is to address and prevent complications from anemia and iron overload. Most people with CDA type 2 develop iron overload, for some this is as early as in their 20's. If a person with CDA type 2 has mild anemia, but ... |
What is (are) Ascher Syndrome ? | Ascher syndrome is a rare condition characterized by a combination of episodic edemea or swelling of the eyelids (blepharochalasia), double lip, and nontoxic thyroid enlargement (goiter). The underlying cause of this condition is unknown. Most cases are sporadic, but familial cases suggestive of autosomal dominant inhe... |
What are the symptoms of Ascher Syndrome ? | What are the signs and symptoms of Ascher Syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ascher 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 MedlinePlus Medical Dictionary to... |
What are the symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality ? | What are the signs and symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia, epilepsy, pyorrhea, mental subnormality. If the information is available, the table below includes how often the symptom is seen in people wi... |
What are the symptoms of Verloes Bourguignon syndrome ? | What are the signs and symptoms of Verloes Bourguignon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Verloes Bourguignon 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... |
What is (are) Dent disease 1 ? | Dent disease type 1 is a kidney disease seen mostly in males. The most frequent sign of Dent disease is the presence of an abnormally large amount of protein in the urine (proteinuria). Other common signs of the disorder include excess calcium in the urine (hypercalciuria), calcium deposits in the kidney (nephrocalcino... |
What are the symptoms of Dent disease 1 ? | What are the signs and symptoms of Dent disease 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dent disease 1. 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 l... |
What is (are) Factor V Leiden thrombophilia ? | Factor V Leiden thrombophilia is an inherited disorder that results in an increased risk of developing abnormal blood clots. Factor V Leiden is the name of a specific gene mutation in the F5 gene. This gene plays a critical role in the normal formation of blood clots in response to an injury. People can inherit one or ... |
What are the symptoms of Factor V Leiden thrombophilia ? | What are the signs and symptoms of factor V Leiden thrombophilia? Individuals affected by factor V Leiden thrombophilia have an increased risk of developing blood clots. The severity of factor V Leiden thrombophilia is extremely variable. Many individuals with the factor V Leiden allele never develop a blood clot. Alth... |
What causes Factor V Leiden thrombophilia ? | What causes factor V Leiden thrombophilia? Factor V Leiden thrombophilia is caused by a specific mutation in the Factor V gene. Factor V plays a critical role in the formation of blood clots in response to injury. Genes are our bodys instructions for making proteins. The factor V gene instructs the body how to make a ... |
Is Factor V Leiden thrombophilia inherited ? | How is factor V Leiden inherited? Factor V Leiden is a genetic condition and can be inherited from a parent. It is important to understand that each person inherits two copies of every gene, one from their mother and the other copy from their father. Individuals who inherit one copy of the factor V Leiden mutation fro... |
How to diagnose Factor V Leiden thrombophilia ? | How is factor V Leiden thrombophilia diagnosed? No clinical features (signs and/or symptoms) are specific for factor V Leiden thrombophilia. The diagnosis of factor V Leiden thrombophilia requires a coagulation screening test or DNA analysis of F5, the gene for factor V, to identify the specific mutation that causes th... |
What are the treatments for Factor V Leiden thrombophilia ? | How might factor V Leiden be treated? The management of individuals with factor V Leiden depends on the clinical circumstances. People with factor V Leiden who have had a deep venous thrombosis (DVT) or pulmonary embolism (PE) are usually treated with blood thinners, or anticoagulants. Anticoagulants such as heparin an... |
What are the symptoms of Charcot-Marie-Tooth disease type 2L ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2L? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2L. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
What is (are) Senior Loken Syndrome ? | Senior Loken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis. It can be caused by mutations in one of at least six genes. The proteins produced from these genes are known or suspect... |
What are the symptoms of Senior Loken Syndrome ? | What are the signs and symptoms of Senior Loken Syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Senior Loken 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 MedlinePlus Medical D... |
What is (are) Miller syndrome ? | Miller syndrome is a rare condition that mainly affects the development of the face and limbs. Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate, abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and lo... |
What are the symptoms of Miller syndrome ? | What are the signs and symptoms of Miller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miller 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 MedlinePlus Medical Dictionary to... |
What are the symptoms of Passos-Bueno syndrome ? | What are the signs and symptoms of Passos-Bueno syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Passos-Bueno 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 MedlinePlus Medical D... |
What are the symptoms of Severe congenital neutropenia X-linked ? | What are the signs and symptoms of Severe congenital neutropenia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... |
What is (are) Autoimmune hemolytic anemia ? | Autoimmune hemolytic anemia (AIHA) occurs when your immune system makes antibodies that attack your red blood cells. This causes a drop in the number of red blood cells, leading to hemolytic anemia. Symptoms may include unusual weakness and fatigue with tachycardia and breathing difficulties, jaundice, dark urine and/o... |
What are the symptoms of Autoimmune hemolytic anemia ? | What are the signs and symptoms of Autoimmune hemolytic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autoimmune hemolytic anemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
What causes Autoimmune hemolytic anemia ? | What causes autoimmune hemolytic anemia? In about half of cases, the cause of autoimmune hemolytic anemia cannot be determined (idiopathic or primary). This condition can also be caused by or occur with another disorder (secondary) or rarely, occur following the use of certain drugs (such as penicillin) or after a pers... |
Is Autoimmune hemolytic anemia inherited ? | Is autoimmune hemolytic anemia inherited? In many cases, the cause of autoimmune hemolytic anemia remains unknown. Some researchers believe that there are multiple factors involved, including genetic and environmental influences (multifactorial). In a very small number of cases, autoimmune hemolytic anemia appears to r... |
What is (are) Factor V deficiency ? | 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 ... |
What are the symptoms of Factor V deficiency ? | What are the signs and symptoms of Factor V deficiency? The symptoms of factor V deficiency may include: Bleeding into the skin Excessive bruising Nose bleeds Bleeding of the gums Excessive menstrual bleeding Prolonged or excessive loss of blood with surgery or trauma Umbilical stump bleeding The Human Phenotype Ontolo... |
What causes Factor V deficiency ? | What causes factor V deficiency? Factor V deficiency is caused by mutations in the F5 gene that prevent the production of a functional factor V protein or decrease the amount of the protein in the bloodstream. Mutations are present in both copies of the F5 gene in each cell, which prevents blood from clotting normally. |
What are the treatments for Factor V deficiency ? | How is factor V deficiency treated? Resources state that fresh plasma or fresh frozen plasma infusions will correct the deficiency temporarily and may be administered daily during a bleeding episode or after surgery. Individuals with factor V deficiency should discuss treatment options with their primary health care p... |
What are the symptoms of PEHO syndrome ? | What are the signs and symptoms of PEHO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PEHO 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 MedlinePlus Medical Dictionary to loo... |
What are the symptoms of Familial visceral myopathy with external ophthalmoplegia ? | What are the signs and symptoms of Familial visceral myopathy with external ophthalmoplegia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial visceral myopathy with external ophthalmoplegia. If the information is available, the table below includes how often the symptom is see... |
What is (are) Collagenous colitis ? | Collagenous colitis is a type of inflammatory bowel disease that affects the colon. It is a form of microscopic colitis, which means that the inflammation is only visible when a biopsy is examined under a microscope; the inflammation cannot be seen or diagnosed from colonoscopy or sigmoidoscopy. Signs and symptoms may ... |
What are the symptoms of Collagenous colitis ? | What are the signs and symptoms of collagenous colitis? All individuals with collagenous colitis experience chronic, watery, non-bloody diarrhea which is what typically prompts individuals to seek medical attention. Onset of diarrhea may occur gradually over time or may be sudden and abrupt. Episodes of diarrhea may be... |
What are the treatments for Collagenous colitis ? | How might collagenous colitis be treated? Treatment for collagenous colitis varies depending on the symptoms and severity in each affected individual. In some cases the condition may resolve on its own (spontaneous remission), although most people continue to have ongoing or occasional diarrhea. Dietary changes are usu... |
What is (are) Chromosome 2q deletion ? | Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occu... |
What are the symptoms of Hyperlipidemia type 3 ? | 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... |
What are the symptoms of Spinal muscular atrophy type 1 with congenital bone fractures ? | What are the signs and symptoms of Spinal muscular atrophy type 1 with congenital bone fractures? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy type 1 with congenital bone fractures. If the information is available, the table below includes how often the symp... |
What are the symptoms of Dens in dente and palatal invaginations ? | What are the signs and symptoms of Dens in dente and palatal invaginations? The Human Phenotype Ontology provides the following list of signs and symptoms for Dens in dente and palatal invaginations. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... |
What are the symptoms of Cone-rod dystrophy amelogenesis imperfecta ? | What are the signs and symptoms of Cone-rod dystrophy amelogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy amelogenesis imperfecta. If the information is available, the table below includes how often the symptom is seen in people with this condit... |
What are the symptoms of Medium-chain 3-ketoacyl-coa thiolase deficiency ? | What are the signs and symptoms of Medium-chain 3-ketoacyl-coa thiolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Medium-chain 3-ketoacyl-coa thiolase deficiency. If the information is available, the table below includes how often the symptom is seen in people with t... |
What are the symptoms of Charcot-Marie-Tooth disease type 1F ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 1F? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1F. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
What is (are) Chromosome 19p deletion ? | Chromosome 19p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 19. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occ... |
What is (are) Hyperparathyroidism-jaw tumor syndrome ? | Hyperparathyroidism-jaw tumor syndrome is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism), which regulate the body's use of calcium. In people with this condition, hyperparathyroidism is caused by benign tumors (adenomas) that form in the parathyroid glands. About 15... |
What are the symptoms of Hyperparathyroidism-jaw tumor syndrome ? | What are the signs and symptoms of Hyperparathyroidism-jaw tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperparathyroidism-jaw tumor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... |
What is (are) Hypokalemic periodic paralysis ? | Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. The duration and frequency of the episodes may vary. Hypokalemic periodic paralysi... |
What are the symptoms of Hypokalemic periodic paralysis ? | What are the signs and symptoms of Hypokalemic periodic paralysis? Hypokalemic periodic paralysis involves attacks of muscle weakness or loss of muscle movement (paralysis) that come and go. The weakness or paralysis is most commonly located in the shoulders and hips, affecting the muscles of the arms and legs. Muscles... |
What causes Hypokalemic periodic paralysis ? | What causes hypokalemic periodic paralysis? Hypokalemic periodic paralysis is caused by mutations in the CACNA1S and SCN4A genes. The CACNA1S and SCN4A genes provide instructions for making proteins that play an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles... |
Is Hypokalemic periodic paralysis inherited ? | How is hypokalemic periodic paralysis inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. |
How to diagnose Hypokalemic periodic paralysis ? | How is hypokalemic periodic paralysis diagnosed? The diagnosis of hypokalemic periodic paralysis is based on a history of episodes of paralysis and low levels of potassium in the blood during attacks (less than 0.9 to 3.0 mmol/L), but not between attacks. An important part of the diagnosis is to rule out other potentia... |
What is (are) Charcot-Marie-Tooth disease type 1E ? | Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the peripheral nerves. Signs and symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person... |
What are the symptoms of Charcot-Marie-Tooth disease type 1E ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 1E? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1E. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
What is (are) Warthin tumor ? | Warthin tumor is a benign tumor of the salivary gland. The first symptom is usually a painless, slow-growing bump in front of the ear, on the bottom of the mouth, or under the chin. Warthin tumors may increase in size over time, but few become cancerous. Though the cause is currently unknown, smoking is believed to inc... |
What are the symptoms of Warthin tumor ? | What are the signs and symptoms of Warthin tumor? Warthin tumor is a benign (noncancerous) tumor of the salivary glands. They most commonly arise in the parotid glands, the largest salivary glands which are located in each cheek above the jaw in front of the ears. Approximately 5-14% of cases are bilateral and 12-20% o... |
What causes Warthin tumor ? | What causes Warthin tumor? The exact underlying cause of Warthin tumor is currently unknown. However, smoking is thought to increase the risk of developing the tumor. Some studies suggest that radiation exposure and autoimmune disorders may also be associated with Warthin tumor. |
How to diagnose Warthin tumor ? | How is Warthin tumor diagnosed? A diagnosis of Warthin tumor is often suspected based on the presence of characteristic signs and symptoms. The following tests may then be ordered to confirm the diagnosis and rule out other conditions that cause similar features: X-rays of the salivary gland (called a ptyalogram or sia... |
What are the treatments for Warthin tumor ? | How might Warthin tumor be treated? Treatment of Warthin tumor generally includes surgery to remove the tumor or careful observation to watch for changes in the tumor over time. Because Warthin tumor is almost always benign, additional treatment (i.e. radiation therapy and/or chemotherapy) is rarely needed. |
What is (are) Maffucci syndrome ? | Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (tangles of abnormal of blood vessels). The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). I... |
What are the symptoms of Maffucci syndrome ? | What are the signs and symptoms of Maffucci syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Maffucci 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 MedlinePlus Medical Dictionar... |
What are the treatments for Maffucci syndrome ? | How might Maffucci syndrome be treated? Management aims at relief of symptoms and early detection of malignancies. Individuals with Maffucci syndrome may benefit from consultations with the following specialists: Radiologist: Radiography or CT scanning performed periodically to evaluate bone changes. Orthopedic surgeon... |
What is (are) Pseudohypoaldosteronism type 2 ? | Psuedohypoaldosteronism type 2 is an inborn error of metabolism. It is characterized by high blood pressure, high levels of potassium in the body, and metabolic acidosis. It is caused by mutations in the WNK1 or WNK4 gene. Treatment may involve dietary restriction of sodium and hydrochlorothiazide. |
What are the symptoms of Pseudohypoaldosteronism type 2 ? | What are the signs and symptoms of Pseudohypoaldosteronism type 2? The most common symptom of pseudohypoaldosteronism type 2 is high blood pressure in adolescents or young adults. In its most severe form, it is associated with muscle weakness, short stature, and intellectual impairment. The Human Phenotype Ontology pro... |
What causes Pseudohypoaldosteronism type 2 ? | What causes pseudohypoaldosteronism type 2? Pseudohypoaldosteronism type 2 is caused by mutations in either the WNK1 or WNK4 genes. Mutations in these genes cause salt retention and impaired excretion of potassium and acid, leading to high blood pressure, hyperkalemia (high levels of potassium), and metabolic acidosis. |
How to diagnose Pseudohypoaldosteronism type 2 ? | How is pseudohypoaldosteronism type 2 diagnosed? Pseudohypoaldosteronism type 2 is usually diagnosed in adults. Unexplained hyperkalemia may be the presenting symptom and Pseudohypoaldosteronism type 2 may be diagnosed after common causes of hyperkalemia have been ruled out. Mildly elevated levels of chloride ion in th... |
What are the treatments for Pseudohypoaldosteronism type 2 ? | How might pseudohypoaldosteronism type 2 be treated? Pseudohypoaldosteronism may be treated with thiazide diuretics and dietary restriction of sodium. |
What are the symptoms of Hirschsprung disease type d brachydactyly ? | What are the signs and symptoms of Hirschsprung disease type d brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease type d brachydactyly. If the information is available, the table below includes how often the symptom is seen in people with this conditio... |
What are the symptoms of Familial ventricular tachycardia ? | What are the signs and symptoms of Familial ventricular tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial ventricular tachycardia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... |
What is (are) Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids ? | Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory disease of the central nervous system. The main symptoms of CLIPPERS include double vision, nystagmus, uncoordinated movement (ataxia) and facial numbness or tingling. This condition can be treate... |
What are the treatments for Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids ? | How might CLIPPERS be treated? The signs and symptoms of CLIPPERS typically improve after treatment with steroids. Initial treatment may involve a short course of high dose steroids given intravenously, and then oral steroids. Many patients experience a relapse when steroids are tapered off, so it is usually necessary ... |
What are the symptoms of Ehlers-Danlos syndrome, periodontitis type ? | What are the signs and symptoms of Ehlers-Danlos syndrome, periodontitis type ? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, periodontitis type . If the information is available, the table below includes how often the symptom is seen in people with this cond... |
What is (are) Deafness and myopia syndrome ? | Deafness and myopia syndrome is rare condition that affects both hearing and vision. Beginning at birth or in early infancy, people with this condition have moderate to profound hearing loss in both ears that generally becomes worse over time. Affected people also develop severe myopia (nearsightedness) later in infanc... |
What are the symptoms of Deafness and myopia syndrome ? | What are the signs and symptoms of Deafness and myopia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness and myopia 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... |
What is (are) Klippel Feil syndrome ? | Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This condition can cause chronic headaches as well as pain in ... |
What are the symptoms of Klippel Feil syndrome ? | What are the signs and symptoms of Klippel Feil syndrome? Klippel Feil syndrome is characterized by the fusion of 2 or more spinal bones in the neck (cervical vertebrae). The condition is present from birth (congenital). The 3 most common features include a low posterior hairline (at the back of the head); a short neck... |
What causes Klippel Feil syndrome ? | What causes Klippel Feil syndrome (KFS)? The specific underlying causes and mechanisms of Klippel Feil syndrome (KFS)are not well understood. In general medical researchers believe KFS happens when the tissue of the embroyo that normally develops into separate vertebrae does not divide correctly. More specifically, ... |
Is Klippel Feil syndrome inherited ? | Is Klippel Feil syndrome inherited? In some cases, Klippel Feil syndrome (KFS) appears to occur randomly for unknown reasons (sporadically). In other cases, the condition appears to be genetic and may occur in more than one person in a family. Both autosomal dominant and autosomal recessive inheritance patterns have be... |
How to diagnose Klippel Feil syndrome ? | How is Klippel Feil syndrome diagnosed? Klippel Feil syndrome (KFS) is typically diagnosed when X-rays or other imaging techniques show fusion of cervical vertebrae. X-rays of the entire spine should be performed to detect other spinal abnormalities, and additional imaging studies may be needed to assess the extent of ... |
What are the treatments for Klippel Feil syndrome ? | How might Klippel-Feil syndrome be treated? There is no cure for Klippel Feil syndrome (KFS); treatment is generally symptomatic and supportive. Management depends on the features and severity in each person, and can be life-long. Careful evaluation, consistent follow-up, and coordination with various specialists are n... |
What is (are) Intestinal pseudoobstruction neuronal chronic idiopathic X-linked ? | Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogen... |
What are the symptoms of Intestinal pseudoobstruction neuronal chronic idiopathic X-linked ? | What are the signs and symptoms of Intestinal pseudoobstruction neuronal chronic idiopathic X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Intestinal pseudoobstruction neuronal chronic idiopathic X-linked. If the information is available, the table below includes how often ... |
What are the symptoms of Malonyl-CoA decarboxylase deficiency ? | What are the signs and symptoms of Malonyl-CoA decarboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Malonyl-CoA decarboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
What is (are) Ankylosing spondylitis ? | Ankylosing spondylitis (AS) is a type of chronic, inflammatory arthritis that mainly affects the spine. It usually begins with inflammation of the joints between the pelvic bones and spine, gradually spreading to the joints between the vertebrae. Signs and symptoms usually begin in adolescence or early adulthood and ma... |
What are the symptoms of Ankylosing spondylitis ? | What are the signs and symptoms of Ankylosing spondylitis? Ankylosing spondylitis (AS) primarily affects the spine, but may affect other parts of the body too. Signs and symptoms usually begin in adolescence or early adulthood and include back pain and stiffness. Back movement gradually becomes more limited over time a... |
Is Ankylosing spondylitis inherited ? | Is ankylosing spondylitis inherited? Although ankylosing spondylitis (AS) can affect more than one person in a family, it is not a purely genetic disease. While genes seem to play a role, the exact cause of AS is not known. It is considered to be multifactorial, which means that multiple genetic and environmental facto... |
What are the treatments for Ankylosing spondylitis ? | How might ankylosing spondylitis be treated? The main goal of treatment for people with ankylosing spondylitis (AS) is to maximize long-term quality of life. This may involve easing symptoms of pain and stiffness; retaining function; preventing complications (such as contractures); and minimizing the effects of associa... |
What are the symptoms of Ichthyosis, acquired ? | What are the signs and symptoms of Ichthyosis, acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis, acquired. 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 Dic... |
What is (are) Stargardt disease ? | Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. People with Stargardt disease also have ... |
What are the symptoms of Stargardt disease ? | What are the signs and symptoms of Stargardt disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt disease. 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 Dictionar... |
Is Stargardt disease inherited ? | How is Stargardt disease inherited? Stargardt disease is most commonly 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. Affected people inherit one mutated copy of the gene from each parent, who is referred to ... |
How to diagnose Stargardt disease ? | Is genetic testing available for Stargardt disease? Yes. Genetic testing may help distinguish the type of Stargardt disease a person has, and provide information about the mode of inheritance and risks to other family members. The Genetic Testing Registry (GTR) provides information about the genetic tests available for... |
What are the treatments for Stargardt disease ? | How might Stargardt disease be treated? At present there is no cure for Stargardt disease, and there is very little that can be done to slow its progression. Wearing sunglasses to protect the eyes from UVa, UVb and bright light may be of some benefit. Animal studies have shown that taking excessive amounts of vitamin A... |
What is (are) Dextrocardia ? | Dextrocardia is a condition in which the heart is located in the right side of the chest instead of the left. It is usually present from birth (congenital). There are several types of dextrocardia. The simplest type occurs when the shape and structure of the heart is a mirror image of a normal heart. Other types of d... |
What is (are) Dermatofibrosarcoma protuberans ? | Dermatofibrosarcoma protuberans is an uncommon cancer in which tumors arise in the deeper layers of skin. The tumor usually starts as a small, firm patch of skin; it may be purplish, reddish, or flesh-colored. It is commonly found on the torso, usually in the shoulder and chest area. The tumor typically grows slowly bu... |
What are the symptoms of Dermatofibrosarcoma protuberans ? | What are the signs and symptoms of Dermatofibrosarcoma protuberans? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatofibrosarcoma protuberans. 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... |
What causes Dermatofibrosarcoma protuberans ? | What causes Dermatofibrosarcoma protuberans? The cause of DFSP is unknown but an injury to the affected skin may be a predisposing factor. Trauma at the affected site has been reported in approximately 10-20% of patients. Recent advances have shown that in approximately 90% of cases, dermatofibrosarcoma protuberans is ... |
What are the symptoms of Microcephalic primordial dwarfism, Montreal type ? | What are the signs and symptoms of Microcephalic primordial dwarfism, Montreal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic primordial dwarfism, Montreal type. If the information is available, the table below includes how often the symptom is seen in people with... |
What are the symptoms of Cobb syndrome ? | What are the signs and symptoms of Cobb syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cobb 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 MedlinePlus Medical Dictionary to loo... |
What is (are) Brittle cornea syndrome ? | Brittle cornea syndrome (BCS) is a type of connective tissue disorder that mainly affects the eyes, joints and skin. Signs and symptoms may include rupture of the cornea after only minor trauma; degeneration of the cornea (keratoconus) or thinning and protrusion of the cornea (keratoglobus); bluish tint in the white pa... |
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