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What are the symptoms of Dwarfism, proportionate with hip dislocation ? | What are the signs and symptoms of Dwarfism, proportionate with hip dislocation? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, proportionate with hip dislocation. If the information is available, the table below includes how often the symptom is seen in people with this co... | GARD | Dwarfism, proportionate with hip dislocation |
What is (are) Gray platelet syndrome ? | Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. GPS results from the absence or red... | GARD | Gray platelet syndrome |
What are the symptoms of Gray platelet syndrome ? | What are the signs and symptoms of Gray platelet syndrome? Signs and symptoms usually appear at birth or in early childhood and include low platelet counts, easy bruising, prolonged bleeding, and nose bleeds. Affected individuals often have myelofibrosis and splenomegaly. Bleeding tendency is usually mild to moderate i... | GARD | Gray platelet syndrome |
What are the treatments for Gray platelet syndrome ? | How might gray platelet syndrome (GPS) be treated? There is no specific treatment for GPS, but management involves anticipating and preventing risks of bleeding (e.g. possible platelet transfusions before surgery). Treatment may also include administration of desmopressin. Splenectomy should be considered to increase t... | GARD | Gray platelet syndrome |
What are the symptoms of Familial partial lipodystrophy associated with PPARG mutations ? | What are the signs and symptoms of Familial partial lipodystrophy associated with PPARG mutations? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial partial lipodystrophy associated with PPARG mutations. If the information is available, the table below includes how often the sy... | GARD | Familial partial lipodystrophy associated with PPARG mutations |
What is (are) Pyruvate carboxylase deficiency ? | Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate ca... | GARD | Pyruvate carboxylase deficiency |
What are the symptoms of Pyruvate carboxylase deficiency ? | What are the signs and symptoms of Pyruvate carboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate carboxylase 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 M... | GARD | Pyruvate carboxylase deficiency |
Is Pyruvate carboxylase deficiency inherited ? | How is pyruvate carboxylase deficiency inherited? Pyruvate carboxylase deficiency is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell (usually one inherited from each parent) must have a mutation for an individual to be affected. Individuals who carry one ... | GARD | Pyruvate carboxylase deficiency |
What are the symptoms of Microcephaly brain defect spasticity hypernatremia ? | What are the signs and symptoms of Microcephaly brain defect spasticity hypernatremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly brain defect spasticity hypernatremia. If the information is available, the table below includes how often the symptom is seen in people ... | GARD | Microcephaly brain defect spasticity hypernatremia |
What are the symptoms of Kallmann syndrome 6 ? | What are the signs and symptoms of Kallmann syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome 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 Dicti... | GARD | Kallmann syndrome 6 |
What are the symptoms of Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema ? | What are the signs and symptoms of Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema. If the information is available, the table below includes how often ... | GARD | Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema |
What is (are) Lyme disease ? | Lyme disease is the most common tickborne infectious disease in the United States. Early signs and symptoms of the condition include fever, chills, muscle pain, headache, and joint pain. As the condition progresses, affected people may experience heart problems, Bell's palsy, arthritis, abnormal muscle movement, speech... | GARD | Lyme disease |
What are the symptoms of Lyme disease ? | What are the signs and symptoms of Lyme disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Lyme 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 look ... | GARD | Lyme disease |
What are the symptoms of Palmoplantar keratoderma, epidermolytic ? | What are the signs and symptoms of Palmoplantar keratoderma, epidermolytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Palmoplantar keratoderma, epidermolytic. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | GARD | Palmoplantar keratoderma, epidermolytic |
What is (are) Bilateral frontal polymicrogyria ? | Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify t... | GARD | Bilateral frontal polymicrogyria |
What is (are) GM1 gangliosidosis type 2 ? | GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult ons... | GARD | GM1 gangliosidosis type 2 |
What are the symptoms of GM1 gangliosidosis type 2 ? | What are the signs and symptoms of GM1 gangliosidosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis 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 MedlinePlus M... | GARD | GM1 gangliosidosis type 2 |
What is (are) Limited systemic sclerosis ? | Systemic sclerosis ine scleroderma is a type of systemic scleroderma that is characterized by Raynaud's phenomenon and the buildup of scar tissue (fibrosis) on one or more internal organs but not the skin. While the exact cause of sine scleroderma is unknown, it is believed to originate from an autoimmune reaction whic... | GARD | Limited systemic sclerosis |
What is (are) Junctional epidermolysis bullosa ? | Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. JEB is separated into two categories: the Herlitz type and the Non-Herlitz type. The Herlitz type of JEB is very severe, and individuals with this condi... | GARD | Junctional epidermolysis bullosa |
What are the symptoms of Junctional epidermolysis bullosa ? | What are the signs and symptoms of Junctional epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Junctional epidermolysis bullosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | GARD | Junctional epidermolysis bullosa |
What are the symptoms of Male pseudohermaphroditism due to defective LH molecule ? | What are the signs and symptoms of Male pseudohermaphroditism due to defective LH molecule? The Human Phenotype Ontology provides the following list of signs and symptoms for Male pseudohermaphroditism due to defective LH molecule. If the information is available, the table below includes how often the symptom is seen ... | GARD | Male pseudohermaphroditism due to defective LH molecule |
What are the symptoms of Fitzsimmons-Guilbert syndrome ? | What are the signs and symptoms of Fitzsimmons-Guilbert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fitzsimmons-Guilbert 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 Medli... | GARD | Fitzsimmons-Guilbert syndrome |
What is (are) Hemophilia B ? | Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from ble... | GARD | Hemophilia B |
What are the symptoms of Hemophilia B ? | What are the signs and symptoms of Hemophilia B? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophilia B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look ... | GARD | Hemophilia B |
What are the symptoms of Myeloperoxidase deficiency ? | What are the signs and symptoms of Myeloperoxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Myeloperoxidase 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... | GARD | Myeloperoxidase deficiency |
What is (are) Primrose syndrome ? | Primrose syndrome is characterized by severe learning disabilities, bony ear cartilage, a hard bony growth in the roof of the mouth, cystic changes on the top of the upper arm and leg bones, cataracts, hearing loss, adult-onset progressive ataxia and nervous system disease, and brain calcification. The cause of the con... | GARD | Primrose syndrome |
What are the symptoms of Primrose syndrome ? | What are the signs and symptoms of Primrose syndrome? Signs and symptoms of primrose syndrome that have been reported in the literature include: Severe learning disabilities Boney ear cartilage Cystic changes in to top of the arm and leg bones Cataracts (clouding of the lens of the eyes) Recurrent ear infections Hearin... | GARD | Primrose syndrome |
What causes Primrose syndrome ? | What causes primrose syndrome? The cause of primrose syndrome is currently unknown. Cases of affected males and a affected female have been reported in the literature. All cases seem to be sporadic. Sporadic refers to either a genetic disorder that occurs for the first time in a family due to a new mutation or the chan... | GARD | Primrose syndrome |
What are the symptoms of Charcot-Marie-Tooth disease type 2N ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2N? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2N. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | GARD | Charcot-Marie-Tooth disease type 2N |
What is (are) Young syndrome ? | Young syndrome is a condition whose signs and symptoms may be similar to those seen in cystic fibrosis, including bronchiectasis, sinusitis, and obstructive azoospermia (a condition in which sperm are produced but do not mix with the rest of the ejaculatory fluid due to a physical obstruction, resulting in nonexistent ... | GARD | Young syndrome |
What are the symptoms of Young syndrome ? | What are the signs and symptoms of Young syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Young 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... | GARD | Young syndrome |
What are the symptoms of Subaortic stenosis short stature syndrome ? | What are the signs and symptoms of Subaortic stenosis short stature syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Subaortic stenosis short stature syndrome. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | GARD | Subaortic stenosis short stature syndrome |
What are the symptoms of 20p12.3 microdeletion syndrome ? | What are the signs and symptoms of 20p12.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 20p12.3 microdeletion 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 Med... | GARD | 20p12.3 microdeletion syndrome |
What is (are) Hereditary sensory and autonomic neuropathy type V ? | Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that affects the sensory nerve cells. These cells, which are also called sensory neurons, transmit information about sensations such as pain, temperature, and touch. Signs and symptoms of the condition generally develop at birth or during early i... | GARD | Hereditary sensory and autonomic neuropathy type V |
What are the symptoms of Hereditary sensory and autonomic neuropathy type V ? | What are the signs and symptoms of Hereditary sensory and autonomic neuropathy type V? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory and autonomic neuropathy type V. If the information is available, the table below includes how often the symptom is seen in people ... | GARD | Hereditary sensory and autonomic neuropathy type V |
What is (are) Rhabdoid tumor ? | Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor. RT usually occurs in infancy or childhood. In mos... | GARD | Rhabdoid tumor |
What are the symptoms of Rhabdoid tumor ? | What are the signs and symptoms of Rhabdoid tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdoid tumor. 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... | GARD | Rhabdoid tumor |
What are the symptoms of Chiari malformation type 3 ? | What are the signs and symptoms of Chiari malformation type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation 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... | GARD | Chiari malformation type 3 |
What is (are) Pyogenic granuloma ? | Pyogenic granuloma are small, reddish bumps on the skin that bleed easily due to an abnormally high number of blood vessels. They typically occur on the hands, arms, or face. While the exact cause of pyogenic granulomas is unknown, they often appear following injury. Pyogenic granuloma is often observed in infancy and ... | GARD | Pyogenic granuloma |
What are the symptoms of Woolly hair syndrome ? | What are the signs and symptoms of Woolly hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woolly hair 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 Dic... | GARD | Woolly hair syndrome |
What are the symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina ? | What are the signs and symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina. If the information i... | GARD | Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina |
What is (are) Marshall syndrome ? | Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this... | GARD | Marshall syndrome |
What are the symptoms of Marshall syndrome ? | What are the signs and symptoms of Marshall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marshall 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... | GARD | Marshall syndrome |
What is (are) Infectious arthritis ? | Infectious arthritis is joint pain, soreness, stiffness and swelling caused by a bacterial, viral, or fungal infection that spreads from another part of the body. Depending on the type of infection, one or more joints may be affected. Certain bacteria can cause a form of infectious arthritis called reactive arthritis, ... | GARD | Infectious arthritis |
What is (are) Cold urticaria ? | Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cau... | GARD | Cold urticaria |
What are the symptoms of Cold urticaria ? | What are the signs and symptoms of cold urticaria? The signs and symptoms of cold urticaria and the severity of the condition vary. Affected people generally develop reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent... | GARD | Cold urticaria |
What causes Cold urticaria ? | What causes cold urticaria? In most cases of cold urticaria, the underlying cause is poorly understood. Although the symptoms are triggered by exposure of the skin to the cold (most often when the temperature is lower than 39 degrees Fahrenheit), it is unclear why this exposure leads to such a significant reaction. Rar... | GARD | Cold urticaria |
Is Cold urticaria inherited ? | Is cold urticaria inherited? Cold urticaria is not thought to be inherited. Most cases occur sporadically in people with no family history of the condition. | GARD | Cold urticaria |
How to diagnose Cold urticaria ? | How is cold urticaria diagnosed? A diagnosis of cold urticaria is typically suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and determine if there are other associated conditions. This generally involves a cold simulation test in whic... | GARD | Cold urticaria |
What are the treatments for Cold urticaria ? | 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... | GARD | Cold urticaria |
What are the symptoms of Succinic acidemia ? | What are the signs and symptoms of Succinic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Succinic acidemia. 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... | GARD | Succinic acidemia |
What is (are) Mosaic trisomy 14 ? | Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauter... | GARD | Mosaic trisomy 14 |
What are the symptoms of Mosaic trisomy 14 ? | What are the signs and symptoms of Mosaic trisomy 14? The effects of mosaic trisomy 14 can vary considerably among affected individuals. Some children with mosaic trisomy 14 grow into healthy, if small, children. Others may have continued difficulty thriving. Those that have a low percentage of affected cells may have ... | GARD | Mosaic trisomy 14 |
What causes Mosaic trisomy 14 ? | What causes mosaic trisomy 14? Individuals with mosaic trisomy 14 have a duplication of chromosome 14 material in some of their cells, while other cells have a normal chromosomal makeup. The additional chromosomal material is responsible for the features that are characteristic of the condition. Most cases of mosaic tr... | GARD | Mosaic trisomy 14 |
What are the treatments for Mosaic trisomy 14 ? | How might mosaic trisomy 14 be treated? Treatment for signs and symptoms of mosaic trisomy 14 focuses on the specific features present in each individual. Infants with congenital heart defects may need surgery or other therapies to alleviate symptoms and correct heart malformations. Respiratory infections should be tre... | GARD | Mosaic trisomy 14 |
What is (are) Nevoid basal cell carcinoma syndrome ? | Nevoid basal cell carcinoma syndrome (NBCCS) is a condition that increases the risk to develop various cancerous and noncancerous tumors. The most common cancer diagnosed in affected people is basal cell carcinoma, which often develops during adolescence or early adulthood. People with NBCCS may also have benign jaw tu... | GARD | Nevoid basal cell carcinoma syndrome |
What are the symptoms of Nevoid basal cell carcinoma syndrome ? | What are the signs and symptoms of Nevoid basal cell carcinoma syndrome? Many different features have been described in people with nevoid basal cell carcinoma syndrome (NBCCS). These features are highly variable, even within affected members of the same family. Signs and symptoms in affected people may include: large ... | GARD | Nevoid basal cell carcinoma syndrome |
Is Nevoid basal cell carcinoma syndrome inherited ? | How is nevoid basal cell carcinoma syndrome inherited? Nevoid basal cell carcinoma syndrome (NBCCS) is caused by a change (mutation) in the PTCH1 gene and is inherited in an autosomal dominant way. This means that if a close relative (such as a parent or sibling) has NBCCS, there is a 50% chance that an individual may... | GARD | Nevoid basal cell carcinoma syndrome |
What are the treatments for Nevoid basal cell carcinoma syndrome ? | How might nevoid basal cell carcinoma syndrome be treated? The features of nevoid basal cell carcinoma syndrome (NBCCS) should be evaluated and treated by specialists who are experienced with the condition (such as oral surgeons, dermatologists, plastic surgeons, and medical geneticists). If a medulloblastoma is detect... | GARD | Nevoid basal cell carcinoma syndrome |
What are the symptoms of Waardenburg syndrome type 3 ? | What are the signs and symptoms of Waardenburg syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome 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 MedlinePl... | GARD | Waardenburg syndrome type 3 |
What are the symptoms of Microphthalmia syndromic 8 ? | What are the signs and symptoms of Microphthalmia syndromic 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 8. 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... | GARD | Microphthalmia syndromic 8 |
What are the symptoms of PPM-X syndrome ? | What are the signs and symptoms of PPM-X syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PPM-X 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... | GARD | PPM-X syndrome |
What are the symptoms of Van Bogaert-Hozay syndrome ? | What are the signs and symptoms of Van Bogaert-Hozay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Bogaert-Hozay 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... | GARD | Van Bogaert-Hozay syndrome |
What is (are) Juvenile retinoschisis ? | Juvenile retinoschisis is an eye condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. The condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. This affects the sharpness of vision. Central vision is more common... | GARD | Juvenile retinoschisis |
What are the symptoms of Juvenile retinoschisis ? | What are the signs and symptoms of Juvenile retinoschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile retinoschisis. 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... | GARD | Juvenile retinoschisis |
What causes Juvenile retinoschisis ? | What causes juvenile retinoschisis? Mutations in the RS1 gene cause most cases of juvenile retinoschisis. The RS1 gene provides instructions for producing a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina, perha... | GARD | Juvenile retinoschisis |
Is Juvenile retinoschisis inherited ? | How is juvenile retinoschisis inherited? Juvenile retinoschisis is inherited in an x-linked recessive pattern. The gene associated with this condition is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cau... | GARD | Juvenile retinoschisis |
What are the treatments for Juvenile retinoschisis ? | What treatment is available for juvenile retinoschisis? There is no specific treatment for juvenile retinoschisis. Low vision services are designed to benefit those whose ability to function is compromised by impaired vision. Public school systems are mandated by federal law to provide appropriate education for childre... | GARD | Juvenile retinoschisis |
What are the symptoms of Distal myopathy with vocal cord weakness ? | What are the signs and symptoms of Distal myopathy with vocal cord weakness? The Human Phenotype Ontology provides the following list of signs and symptoms for Distal myopathy with vocal cord weakness. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | GARD | Distal myopathy with vocal cord weakness |
What is (are) Freeman Sheldon syndrome ? | Freeman Sheldon syndrome is an inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Freeman-Sheldon syndrome can be inh... | GARD | Freeman Sheldon syndrome |
What are the symptoms of Freeman Sheldon syndrome ? | What are the signs and symptoms of Freeman Sheldon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Freeman Sheldon 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 Med... | GARD | Freeman Sheldon syndrome |
How to diagnose Freeman Sheldon syndrome ? | How is Freeman Sheldon syndrome diagnosed? Freeman Sheldon syndrome may be suspected based on medical history and physical examination which reveal characteristic features such as a small mouth, flat mask-like face, club feet, joint contractures, and under-development of the cartilage of the nose. A definitive diagnosi... | GARD | Freeman Sheldon syndrome |
What is (are) Steatocystoma multiplex ? | Steatocystoma multiplex is a condition characterized by numerous skin cysts that tend to develop during puberty. Cysts most often develop on the chest, upper arms and face, but may develop all over the body in some cases. The cysts may become inflamed and cause scarring when they heal. The condition is thought to be ca... | GARD | Steatocystoma multiplex |
What are the symptoms of Steatocystoma multiplex ? | What are the signs and symptoms of Steatocystoma multiplex? Signs and symptoms of steatocystoma multiplex include multiple cysts on the skin. The cysts are often 1 to 2 centimeter wide. They frequently occur on the trunk of the body, upper arms, legs, and face; however, they can develop on other parts of the body as we... | GARD | Steatocystoma multiplex |
What causes Steatocystoma multiplex ? | What causes steatocystoma multiplex? Mutations in a gene called keratin 17 (KRT17) have been identified in some individuals with inherited steatocystoma multiplex. In these families the condition is inherited in an autosomal dominant fashion. In other cases the condition occurs sporadically. This may mean that it is du... | GARD | Steatocystoma multiplex |
What are the treatments for Steatocystoma multiplex ? | How might steatocystoma multiplex be treated? Treatment options for steatocystoma multiplex are limited and have had varying degrees of success. The most effective treatment method is thought to be removal of cysts by surgery. However, cosmetic concerns, time, cost, and pain need to be considered because affected indi... | GARD | Steatocystoma multiplex |
What is (are) Tetrahydrobiopterin deficiency ? | Tetrahydrobiopterin (BH4) deficiency is a neurological condition caused by an inborn error of metabolism. BH4 is a substance in the body that enhances the action of other enzymes. Deficiency of BH4 leads to abnormally high blood levels of the amino acid phenylalanine, and low levels of certain neurotransmitters. Signs ... | GARD | Tetrahydrobiopterin deficiency |
What are the symptoms of Tetrahydrobiopterin deficiency ? | What are the signs and symptoms of Tetrahydrobiopterin deficiency? Infants with tetrahydrobiopterin (BH4) deficiency typically appear normal and healthy at birth. Neurological signs and symptoms usually become apparent over time, and can range from mild to severe. These may include abnormal muscle tone; poor sucking an... | GARD | Tetrahydrobiopterin deficiency |
What are the symptoms of Meckel syndrome type 2 ? | What are the signs and symptoms of Meckel syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel 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 MedlinePlus Medical... | GARD | Meckel syndrome type 2 |
What is (are) Adenocarcinoma of the appendix ? | Cancer of the appendix is very rare and is typically found incidentally during appendectomies, in about 1% of the cases. According to a report published by the National Cancer Institute, using the Surveillance, Epidemiology, and End Results (SEER) database, appendix cancer account for about 0.4% of gastrointestinal tum... | GARD | Adenocarcinoma of the appendix |
What are the symptoms of Adenocarcinoma of the appendix ? | What are the symptoms of adenocarcinoma of the appendix? The most common clinical symptom is acute appendicitis. Other symptoms include a palpable abdominal mass, ascites (fluid buildup), peritonitis (inflammation of the membrane lining the abdominal cavity) due to a perforated appendix, and non-specific gastrointestin... | GARD | Adenocarcinoma of the appendix |
How to diagnose Adenocarcinoma of the appendix ? | How might adenocarcinoma of the appendix be diagnosed? Adenocarcinoma of the appendix may be identified along with acute appendicitis. Mucinous adenocarcinomas may also be found incidentally as a right sided cystic mass on an imaging study. | GARD | Adenocarcinoma of the appendix |
What is (are) Hepatocellular carcinoma, childhood ? | Hepatocellular carcinoma, childhood is a rare type of cancer of the liver that affects children. Symptoms may include a mass in the abdomen, swollen abdomen, abdominal pain, weight loss, poor appetite, jaundice, vomiting, fever, itchy skin, anemia, and back pain. Treatment options may vary depending on a variety of fac... | GARD | Hepatocellular carcinoma, childhood |
What are the symptoms of Hepatocellular carcinoma, childhood ? | What are the signs and symptoms of Hepatocellular carcinoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatocellular carcinoma, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | GARD | Hepatocellular carcinoma, childhood |
What causes Hepatocellular carcinoma, childhood ? | What causes hepatocellular carcinoma, childhood? A review of the literature suggests that knowledge regarding the cause of hepatocellular carcinoma in children is lacking due to the rarity of this disease. Children living in regions of the world where heptatitis B virus is common have been reported to have a much grea... | GARD | Hepatocellular carcinoma, childhood |
What is (are) Macrodactyly of the hand ? | Macrodactyly of the hand is a rare condition in which a person's fingers are abnormally large due to the overgrowth of the underlying bone and soft tissue. This condition is congenital, meaning that babies are born with it. Although babies are born with the condition, macrodactyly is usually not inherited. Most of the ... | GARD | Macrodactyly of the hand |
What is (are) Trichotillomania ? | Trichotillomania is an impulse control disorder characterized by an overwhelming urge to repeatedly pull out one's own hair (usually on the scalp), resulting in hair loss (alopecia). The eyelashes, eyebrows, and beard can also be affected. Many affected individuals feel extreme tension when they feel an impulse, follow... | GARD | Trichotillomania |
What are the symptoms of Trichotillomania ? | What are the signs and symptoms of Trichotillomania? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichotillomania. 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 ... | GARD | Trichotillomania |
What are the treatments for Trichotillomania ? | How might trichotillomania be treated? Behavioral treatment seems to be the most powerful treatment for trichotillomania. Parental involvement is important and should include enough support so that affected children grow well intellectually, physically, and socially. Shaving or clipping hair close to the scalp may be h... | GARD | Trichotillomania |
What is (are) 11-beta-hydroxylase deficiency ? | Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. In this condition, the adrenal glands produce excess androgens (male sex hormones). This condition is caused by mutations in the ... | GARD | 11-beta-hydroxylase deficiency |
What are the symptoms of 11-beta-hydroxylase deficiency ? | What are the signs and symptoms of 11-beta-hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 11-beta-hydroxylase 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 Med... | GARD | 11-beta-hydroxylase deficiency |
Is 11-beta-hydroxylase deficiency inherited ? | How is 11-beta-hydroxylase deficiency inherited? 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 sign... | GARD | 11-beta-hydroxylase deficiency |
How to diagnose 11-beta-hydroxylase deficiency ? | Is genetic testing available for 11-beta-hydroxylase deficiency? Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care ... | GARD | 11-beta-hydroxylase deficiency |
What are the symptoms of Spinocerebellar ataxia 4 ? | What are the signs and symptoms of Spinocerebellar ataxia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 4. 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 Med... | GARD | Spinocerebellar ataxia 4 |
What is (are) Primary spontaneous pneumothorax ? | Primary spontaneous pneumothorax is an abnormal accumulation of air in the pleural space (the space between the lungs and the chest cavity) that can result in the partial or complete collapse of a lung. It is called primary because it occurs in the absence of lung disease such as emphysema and spontaneous because the p... | GARD | Primary spontaneous pneumothorax |
What are the symptoms of Primary spontaneous pneumothorax ? | What are the signs and symptoms of Primary spontaneous pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary spontaneous pneumothorax. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | GARD | Primary spontaneous pneumothorax |
What are the symptoms of Aganglionosis, total intestinal ? | What are the signs and symptoms of Aganglionosis, total intestinal? The Human Phenotype Ontology provides the following list of signs and symptoms for Aganglionosis, total intestinal. 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... | GARD | Aganglionosis, total intestinal |
What are the symptoms of Gupta Patton syndrome ? | What are the signs and symptoms of Gupta Patton syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gupta Patton 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... | GARD | Gupta Patton syndrome |
What are the symptoms of Hypomagnesemia 2, renal ? | What are the signs and symptoms of Hypomagnesemia 2, renal? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia 2, renal. 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... | GARD | Hypomagnesemia 2, renal |
What is (are) Spondylocostal dysostosis 1 ? | Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. T... | GARD | Spondylocostal dysostosis 1 |
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