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What is (are) Noonan syndrome 2 ? | Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndr... |
What are the treatments for Noonan syndrome 2 ? | How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabi... |
What is (are) Thrombotic thrombocytopenic purpura, congenital ? | Thrombotic thrombocytopenic purpura (TTP), congenital is a blood disorder characterized by low platelets (i.e., thrombocytopenia), small areas of bleeding under the skin (i.e., purpura), low red blood cell count, and hemolytic anemia. TTP causes blood clots (thrombi) to form in small blood vessels throughout the body. ... |
What are the symptoms of Thrombotic thrombocytopenic purpura, congenital ? | What are the signs and symptoms of Thrombotic thrombocytopenic purpura, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Thrombotic thrombocytopenic purpura, congenital. If the information is available, the table below includes how often the symptom is seen in people with t... |
What are the symptoms of Spondyloepimetaphyseal dysplasia with multiple dislocations ? | What are the signs and symptoms of Spondyloepimetaphyseal dysplasia with multiple dislocations? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia with multiple dislocations. If the information is available, the table below includes how often the symptom ... |
What are the symptoms of Hyperglycerolemia ? | What are the signs and symptoms of Hyperglycerolemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperglycerolemia. 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 symptoms of Peptidic growth factors deficiency ? | What are the signs and symptoms of Peptidic growth factors deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Peptidic growth factors deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... |
What are the symptoms of Mesomelic dysplasia Kantaputra type ? | What are the signs and symptoms of Mesomelic dysplasia Kantaputra type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dysplasia Kantaputra type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
What are the symptoms of Kasznica Carlson Coppedge syndrome ? | What are the signs and symptoms of Kasznica Carlson Coppedge syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kasznica Carlson Coppedge syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... |
What are the symptoms of Epilepsy juvenile absence ? | What are the signs and symptoms of Epilepsy juvenile absence? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy juvenile absence. 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 M... |
What is (are) Lambert Eaton myasthenic syndrome ? | Lambert Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction. The neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. This syndrome occurs when antibodies interfere with electrical impulses between the nerve and muscle cells. It may be associated... |
What are the symptoms of Lambert Eaton myasthenic syndrome ? | What are the symptoms of Lambert-Eaton myasthenic syndrome? Signs and symptoms of Lambert-Eaton myasthenic syndrome may include: Weakness or loss of movement that varies in severity: Difficulty climbing stairs Difficulty lifting objects Need to use hands to arise from sitting or lying positions Difficulty talking Diffi... |
What causes Lambert Eaton myasthenic syndrome ? | What causes Lambert Eaton myasthenic syndrome? Lambert Eaton myasthenic syndrome is the result of an autoimmune process which causes a disruption of electrical impulses between nerve cells and muscle fibers. In cases where Lambert Eaton myasthenic syndrome appears in association with cancer, the cause may be that the b... |
What are the treatments for Lambert Eaton myasthenic syndrome ? | How might Lambert-Eaton myasthenic syndrome be treated? Medications and therapies used to treat Lambert-Eaton myasthenic syndrome may include anticholinesterase agents (e.g., Pyridostigmine), guanidine hydrochloride, plasmapheresis (where blood plasma is removed and replaced with fluid, protein, or donated plasma) or I... |
What is (are) Congenital adrenal hyperplasia ? | Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Affected people lack an enzyme the adrenal glands need to make one or more of t... |
What are the symptoms of Congenital adrenal hyperplasia ? | What are the signs and symptoms of Congenital adrenal hyperplasia? The signs and symptoms of congenital adrenal hyperplasia (CAH) vary based on many factors including the type of CAH, the age of diagnosis and the sex of the affected person. For example, girls with the severe form of CAH may be born with ambiguous genit... |
What causes Congenital adrenal hyperplasia ? | What causes congenital adrenal hyperplasia? Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that can be caused by a change (mutation) in several different genes: 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene 3-beta-hydroxysteroid dehydrogenase deficiency is caused by mutatio... |
Is Congenital adrenal hyperplasia inherited ? | 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... |
How to diagnose Congenital adrenal hyperplasia ? | Is genetic testing avaliable for congenital adrenal hyperplasia? Yes, genetic testing is available for many of the genes known to cause congenital adrenal hyperplasia (CAH). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known. The Genetic Test... |
What are the treatments for Congenital adrenal hyperplasia ? | How might congenital adrenal hyperplasia be treated? The best treatment options for congenital adrenal hyperplasia (CAH) depend on many factors including the type of CAH and the signs and symptoms present in each person. Many people with CAH require steroids to replace the low hormones. These medications will need to b... |
What are the symptoms of Coenzyme Q10 deficiency ? | What are the signs and symptoms of Coenzyme Q10 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Coenzyme Q10 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... |
What is (are) Pseudopseudohypoparathyroidism ? | Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones. PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting... |
What are the symptoms of Pseudopseudohypoparathyroidism ? | What are the signs and symptoms of Pseudopseudohypoparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudopseudohypoparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... |
What is (are) Chromosome 16q deletion ? | Chromosome 16q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 16. 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 Ghosal hematodiaphyseal dysplasia syndrome ? | What are the signs and symptoms of Ghosal hematodiaphyseal dysplasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ghosal hematodiaphyseal dysplasia syndrome. 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 Dandy-Walker malformation with facial hemangioma ? | What are the signs and symptoms of Dandy-Walker malformation with facial hemangioma? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with facial hemangioma. If the information is available, the table below includes how often the symptom is seen in people with... |
What is (are) Craniometaphyseal dysplasia, autosomal dominant ? | Autosomal dominant craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bones in the head can lead to distinctive facial features and delayed... |
What are the symptoms of Craniometaphyseal dysplasia, autosomal dominant ? | What are the signs and symptoms of Craniometaphyseal dysplasia, autosomal dominant? Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertel... |
What causes Craniometaphyseal dysplasia, autosomal dominant ? | What causes autosomal dominant craniometaphyseal dysplasia? Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the ANKH gene. The ANKH gene provides instructions for making a protein that is present in bone and transports a molecule called pyrophosphate out of cells. Pyrophosphate helps regulate b... |
Is Craniometaphyseal dysplasia, autosomal dominant inherited ? | How is autosomal dominant craniometaphyseal dysplasia inherited? Autosomal dominant craniometaphyseal dysplasia is inherited in an autosomal dominant pattern, which means one altered copy of the ANKH gene in each cell is sufficient to cause the disorder. Individuals with autosomal dominant craniometaphyseal dysplasia t... |
What are the treatments for Craniometaphyseal dysplasia, autosomal dominant ? | How might craniometaphyseal dysplasia be treated? Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrow... |
What is (are) Juvenile-onset dystonia ? | Juvenile-onset dystonia is a form of dystonia, which is a movement disorder characterized by involuntary muscle contractions that cause repetitive movements and/or abnormal postures. The severity and frequency of the movements vary significantly; in some affected people, they may be barely noticeable while in others, t... |
What are the symptoms of Juvenile-onset dystonia ? | What are the signs and symptoms of Juvenile-onset dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile-onset dystonia. 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 Medic... |
What are the symptoms of Radius absent anogenital anomalies ? | What are the signs and symptoms of Radius absent anogenital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Radius absent anogenital anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... |
What are the symptoms of Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert ? | What are the signs and symptoms of Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert? The Human Phenotype Ontology provides the following list of signs and symptoms for Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert. If the information is available, the table below includes how often th... |
What is (are) SAPHO syndrome ? | SAPHO syndrome involves any combination of: Synovitis (inflammation of the joints), Acne, Pustulosis (thick yellow blisters containing pus) often on the palms and soles, Hyperostosis (increase in bone substance) and Osteitis (inflammation of the bones). The cause of SAPHO syndrome is unknown and treatment is focused on... |
What are the symptoms of SAPHO syndrome ? | What are the signs and symptoms of SAPHO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SAPHO 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 l... |
What are the treatments for SAPHO syndrome ? | How might SAPHO syndrome be treated? There is no specific treatment plan for SAPHO syndrome. It can be a chronic condition but sometimes eventually heals on its own. Joint pain may be managed with nonsteroidal anti-inflammatory drugs and prescription vitamin A is used to treat the acne. Other drugs that may be used inc... |
What is (are) Crigler Najjar syndrome, type 2 ? | Crigler Najjar syndrome, type 2 is caused by mutations in the UGT1A1 gene. The gene mutation causes the body to be unable to make adequate enzyme to convert bilirubin into a form that can easily be removed from the body. Without this enzyme, bilirubin can build up in the body and lead to extraordinarily yellow skin and... |
What are the symptoms of Crigler Najjar syndrome, type 2 ? | What are the signs and symptoms of Crigler Najjar syndrome, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Crigler Najjar syndrome, type 2. 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 are the treatments for Crigler Najjar syndrome, type 2 ? | How might Crigler Najjar syndrome, type 2 be treated? Treatment for Crigler Najjar syndrome, type 2 is based on trying to reduce bilirubin levels. As a result it is commonly treated with aggressive phototherapy and phenobarbitol. For severe disease, calcium gluconate, intravenous fluids, and albumin may be recommended.... |
What are the symptoms of Anemia due to Adenosine triphosphatase deficiency ? | What are the signs and symptoms of Anemia due to Adenosine triphosphatase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia due to Adenosine triphosphatase deficiency. If the information is available, the table below includes how often the symptom is seen in people wi... |
What is (are) Axenfeld-Rieger syndrome type 1 ? | Axenfeld-Rieger syndrome is a group of eye disorders that affects the development of the eye. Common eye symptoms include cornea defects, which is the clear covering on the front of the eye, and iris defects, which is the colored part of the eye. People with this syndrome may have an off-center pupil (corectopia) or ex... |
What are the symptoms of Axenfeld-Rieger syndrome type 1 ? | What are the signs and symptoms of Axenfeld-Rieger syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Axenfeld-Rieger syndrome type 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 M... |
How to diagnose Axenfeld-Rieger syndrome type 1 ? | Is genetic testing available for Axenfeld Rieger syndrome? The Genetic Testing Registry (GTR) is a central online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a... |
What are the treatments for Axenfeld-Rieger syndrome type 1 ? | Can dislocated lenses in patients with Axenfeld-Rieger syndrome be treated? We were unable to find information in the medical literature regarding the management of dislocated lenses in patients with Axenfeld-Rieger syndrome. We encourage you to speak with a healthcare provider experienced in the management of rare eye... |
What is (are) Ataxia telangiectasia ? | Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oc... |
What are the symptoms of Ataxia telangiectasia ? | What are the signs and symptoms of Ataxia telangiectasia? Ataxia-telangiectasia affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically... |
What are the symptoms of PHAVER syndrome ? | What are the signs and symptoms of PHAVER syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PHAVER 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 is (are) Bronchiolitis obliterans organizing pneumonia ? | Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but oft... |
What are the symptoms of Bronchiolitis obliterans organizing pneumonia ? | What are the signs and symptoms of bronchiolitis obliterans organizing pneumonia (BOOP)? Signs and symptoms of BOOP vary. Some individuals with BOOP may have no apparent symptoms, while others may have severe respiratory distress as in acute, rapidly-progressive BOOP. The most common signs and symptoms of BOOP include ... |
What causes Bronchiolitis obliterans organizing pneumonia ? | What causes bronchiolitis obliterans organizing pneumonia (BOOP)? BOOP may be caused by a variety of factors, including viral infections, inhalation of toxic gases, drugs, connective tissue disorders, radiation therapy, cocaine, inflammatory bowl disease, and HIV infection. In many cases, the underlying cause of BOOP i... |
How to diagnose Bronchiolitis obliterans organizing pneumonia ? | How is bronchiolitis obliterans organizing pneumonia (BOOP) diagnosed? BOOP is typically diagnosed by lung biopsy, although imaging tests and pulmonary function tests can also provide information for diagnosis. |
What are the treatments for Bronchiolitis obliterans organizing pneumonia ? | How might bronchiolitis obliterans organizing pneumonia (BOOP) be treated? Most cases of BOOP respond well to treatment with corticosteroids. If the condition is caused by a particular drug, stopping the drug can also improve a patient's condition. Other medications reported in the medical literature to be beneficial f... |
What are the symptoms of Partial atrioventricular canal ? | What are the signs and symptoms of Partial atrioventricular canal? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial atrioventricular canal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... |
What are the symptoms of Kleiner Holmes syndrome ? | What are the signs and symptoms of Kleiner Holmes syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kleiner Holmes 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 Medic... |
What is (are) Hydatidiform mole ? | Molar pregnancy is a condition in which the placenta does not develop properly. The symptoms of molar pregnancy, which may include vaginal bleeding, severe morning sickness, stomach cramps, and high blood pressure, typically begin around the 10th week of pregnancy. Because the embryo does not form or is malformed in mo... |
What are the symptoms of Hydatidiform mole ? | What are the signs and symptoms of Hydatidiform mole? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydatidiform mole. 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 is (are) Horizontal gaze palsy with progressive scoliosis ? | Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally) and must turn their head instead of moving their eyes to track moving objec... |
What are the symptoms of Horizontal gaze palsy with progressive scoliosis ? | What are the signs and symptoms of Horizontal gaze palsy with progressive scoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Horizontal gaze palsy with progressive scoliosis. If the information is available, the table below includes how often the symptom is seen in people with... |
What are the symptoms of Wilson-Turner syndrome ? | What are the signs and symptoms of Wilson-Turner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wilson-Turner 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... |
What is (are) Pilomatrixoma ? | Pilomatrixoma is a benign (non-cancerous) skin tumor of the hair follicle (structure in the skin that makes hair). They tend to develop in the head and neck area and are usually not associated with any other signs and symptoms (isolated). Rarely, pilomatrixomas can become cancerous (known as a pilomatrix carcinoma). Al... |
What are the symptoms of Pilomatrixoma ? | What are the signs and symptoms of Pilomatrixoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Pilomatrixoma. 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 causes Pilomatrixoma ? | What causes a pilomatrixoma? The exact underlying cause of pilomatrixoma is not well understood. Changes (mutations) in the CTNNB1 gene are found in at least 75% of isolated (without other signs and symptoms) pilomatrixomas. These mutations are somatic, which means they are not inherited and are only present in the tum... |
Is Pilomatrixoma inherited ? | Is a pilomatrixoma inherited? Most isolated (without other signs and symptoms) pilomatrixomas are not inherited. However, more than one family member can rarely be affected, which suggests there may be a hereditary component in some cases. Rarely, pilomatrixomas occur in people with certain genetic syndromes such as Ga... |
How to diagnose Pilomatrixoma ? | How is a pilomatrixoma diagnosed? A diagnosis of pilomatrixoma is usually suspected on physical examination. Specialized tests may be ordered to confirm the diagnosis and rule out other conditions that cause similar features. These tests may include an ultrasound, an X-ray, and/or a small biopsy of the tumor. |
What are the treatments for Pilomatrixoma ? | How might a pilomatrixoma be treated? Pilomatrixomas are usually surgically removed (excised). In most cases, the tumors do not grow back (recur) after surgery, unless the removal was incomplete. |
What is (are) Nodular nonsuppurative panniculitis ? | Nodular nonsuppurative panniculitis describes a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often af... |
What are the symptoms of Nodular nonsuppurative panniculitis ? | What are the signs and symptoms of Nodular nonsuppurative panniculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Nodular nonsuppurative panniculitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
What are the treatments for Nodular nonsuppurative panniculitis ? | How might nodular nonsuppurative panniculitis be treated? Treatment for nodular nonsuppurative panniculitis (NNP) generally aims at controlling and relieving the symptoms that an individual has. Before treatment is initiated, a work-up should be completed to determine whether the condition is secondary to another under... |
What are the symptoms of Corneal hypesthesia, familial ? | What are the signs and symptoms of Corneal hypesthesia, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal hypesthesia, familial. 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) Pityriasis lichenoides ? | Pityriasis lichenoides is a skin disorder of unknown cause. There are two types of pityriasis lichenoides; a more severe form with a sudden onset that tends to be short-lived (acute) which is usually found in children, known as pityriasis lichenoides et varioliformis acuta and a more mild but long-lasting (chronic) fo... |
What are the treatments for Pityriasis lichenoides ? | What treatment is available for pityriasis lichenoides? The different forms of treatment for pityriasis lichenoides that have been used range from natural sunlight exposure to chemotherapeutic agents. Treatment may not be necessary if the rash is not causing symptoms. When itching is severe, topical corticosteroids, ta... |
What are the symptoms of Hypomagnesemia 6 ? | What are the signs and symptoms of Hypomagnesemia 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia 6. 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 ... |
What are the symptoms of Hooft disease ? | What are the signs and symptoms of Hooft disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hooft 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 Dictionary to loo... |
What are the symptoms of Spondylometaphyseal dysplasia corner fracture type ? | What are the signs and symptoms of Spondylometaphyseal dysplasia corner fracture type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia corner fracture type. If the information is available, the table below includes how often the symptom is seen in people ... |
What is (are) Isolated levocardia ? | Isolated levocardia is a type of situs inversus where the heart is located in the normal position, but there is a mirror-image reversal of other internal organs. Isolated levocardia may occur alone or with heart defects, heart rhythm abnormalities (sick sinus syndrome or atrioventricular node disorder), spleen defects ... |
How to diagnose Isolated levocardia ? | Has MRI or other tests been helpful in planning the care of infants prenatally diagnosed with isolated levocardia? Yes. In isolated levocardia it can be difficult to determine the position of the internal organs. Ultrasonography, CT, and MRI have been used alone and in combination to improve imaging of the internal org... |
What are the symptoms of Alopecia-intellectual disability syndrome ? | What are the signs and symptoms of Alopecia-intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia-intellectual disability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this conditio... |
What is (are) Heparin-induced thrombocytopenia ? | Heparin-induced thrombocytopenia (HIT) is an adverse reaction to the drug heparin resulting in an abnormally low amount of platelets (thrombocytopenia). HIT is usually an immune response which typically occurs 4-10 days after exposure to heparin; it can lead to serious complications and be life-threatening. This condit... |
What are the symptoms of Schisis association ? | What are the signs and symptoms of Schisis association? The Human Phenotype Ontology provides the following list of signs and symptoms for Schisis association. 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 Dicti... |
What is (are) Linear porokeratosis ? | Linear porokeratosis is a skin condition that most often begins in infancy or early childhood, but it can occur at any age. The main feature of this condition is the development of reddish brown, slightly raised markings on the skin arranged in lines or streaks on one side of the body. These markings are not usually ... |
What are the treatments for Linear porokeratosis ? | How might linear porokeratosis be treated? Because linear porokeratosis is a rare condition, there is no established treatment protocol. Protection from sun exposure and regular visits to a doctor to check for skin cancer are encouraged as routine care. Treatment options depend on the size, location, and severity of ... |
What are the symptoms of Brachydactyly Mononen type ? | What are the signs and symptoms of Brachydactyly Mononen type? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly Mononen type. 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... |
What are the symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction ? | What are the signs and symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction? The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction. If the information is available, the table below include... |
What is (are) Muckle-Wells syndrome ? | Muckle-Wells syndrome is an autoinflammatory disease, and the intermediate form of cryopyrin-associated periodic syndrome (CAPS). Signs and symptoms may include recurrent episodes of fever, skin rash, joint pain, abdominal pain, and pinkeye; progressive sensorineural deafness; and amyloidosis. It is caused by mutations... |
What are the symptoms of Muckle-Wells syndrome ? | What are the signs and symptoms of Muckle-Wells syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Muckle-Wells 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) Disseminated peritoneal leiomyomatosis ? | Disseminated peritoneal leiomyomatosis (DPL) is a rare condition which is characterized by nodules or small lumps of smooth muscle cells located on the peritoneum (lining of the abdominal wall) and abdominal organs.The condition is usually benign (noncancerous) but in rare cases has become cancerous. Although it can be... |
What are the symptoms of Disseminated peritoneal leiomyomatosis ? | What are the signs and symptoms of disseminated peritoneal leiomyomatosis (DPL)? Disseminated peritoneal leiomyomatosis (DPL) often does not produce any symptoms. When symptoms do occur, they may include: Abdominal and pelvic pain which is often associated with abnormal menstrual bleeding (dysmenorrhia) Rectal bleeding... |
What causes Disseminated peritoneal leiomyomatosis ? | What causes disseminated peritoneal leiomyomatosis (DPL)? The cause of disseminated peritoneal leiomyomatosis (DPL) is unknown, but medical researchers believe it is influenced by both hormonal and genetic factors. Not all cases are related to hormone levels, as some cases have occurred in men and in post-menopausal wo... |
How to diagnose Disseminated peritoneal leiomyomatosis ? | How is disseminated peritoneal leiomyomatosis (DPL) diagnosed? An ultrasound may reveal the presence of nodules (lumps) which may indicate disseminated peritoneal leiomyomatosis (DPL). However, DPL can only be confirmed by a biopsy of the nodule. The nodules should contain smooth muscle cells with no atypia (no abnorma... |
What are the treatments for Disseminated peritoneal leiomyomatosis ? | How might disseminated peritoneal leiomyomatosis (DPL) be treated? Presently there are no treatment guidelines for disseminated peritoneal leiomyomatosis (DPL). DPL is considered a benign condition and some cases of DPL resolve after the baby is delivered (if pregnant), hormone treatment is stopped (including both birt... |
What are the symptoms of Anemia sideroblastic and spinocerebellar ataxia ? | What are the signs and symptoms of Anemia sideroblastic and spinocerebellar ataxia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia sideroblastic and spinocerebellar ataxia. If the information is available, the table below includes how often the symptom is seen in people with t... |
What is (are) Cheilitis glandularis ? | Cheilitis glandularis is a rare inflammatory disorder of the lip. It is mainly characterized by swelling of the lip with hyperplasia of the salivary glands; secretion of a clear, thick mucus; and variable inflammation. Enlargement and chronic exposure of the mucous membrane on the lower lip becomes affected by the envi... |
What are the symptoms of Cheilitis glandularis ? | What are the signs and symptoms of Cheilitis glandularis? The Human Phenotype Ontology provides the following list of signs and symptoms for Cheilitis glandularis. 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 treatments for Cheilitis glandularis ? | How might cheilitis glandularis be treated? The approach to treatment for cheilitis glandularis is typically based on information obtained from histopathologic analysis (microscopic examination of the tissue); the identification of the likely causes responsible for the condition; and attempts to alleviate or eradicate ... |
What is (are) Tetralogy of Fallot ? | Tetralogy of Fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blo... |
What are the symptoms of Tetralogy of Fallot ? | What are the signs and symptoms of Tetralogy of Fallot? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetralogy of Fallot. 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 Dicti... |
What are the symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans ? | What are the signs and symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe achondroplasia with developmental delay and acanthosis nigricans. If the information is available, the table below include... |
What is (are) Troyer syndrome ? | Troyer syndrome is a neurological disorder and one of the many types of hereditary spastic paraplegia. Signs and symptoms typically begin in early childhood and may include progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; development... |
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