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What is (are) 22q13.3 deletion syndrome ? | 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a chromosome abnormality caused by the loss (deletion) of a small piece of chromosome 22. The deletion occurs near the end of the long arm (or q arm) at a location designated as q13.3. The signs and symptoms of this condition vary widely from person ... | 22q13.3 deletion syndrome |
What are the symptoms of 22q13.3 deletion syndrome ? | What are the signs and symptoms of 22q13.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 22q13.3 deletion 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 M... | 22q13.3 deletion syndrome |
What are the symptoms of Cerebral sclerosis similar to Pelizaeus-Merzbacher disease ? | What are the signs and symptoms of Cerebral sclerosis similar to Pelizaeus-Merzbacher disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral sclerosis similar to Pelizaeus-Merzbacher disease. If the information is available, the table below includes how often the symptom is... | Cerebral sclerosis similar to Pelizaeus-Merzbacher disease |
What is (are) Glutamate formiminotransferase deficiency ? | Glutamate formiminotransferase deficiency is an inherited metabolic disorder that affects physical and mental development. There are two forms of this condition, a mild form and a sever form. People with the mild form have minor delays in physical and mental development and may have mild intellectual disability. They a... | Glutamate formiminotransferase deficiency |
What are the symptoms of Glutamate formiminotransferase deficiency ? | What are the signs and symptoms of Glutamate formiminotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamate formiminotransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | Glutamate formiminotransferase deficiency |
What is (are) Linear scleroderma ? | Linear scleroderma is one sub-type of localized scleroderma, most commonly occurring in childhood. It is characterized by abnormalities of the skin and subcutaneous tissues that often follow a dermatomal distribution and that are found on one side of the body. Besides the lesion in the face or scalp there are also abn... | Linear scleroderma |
What is (are) Isodicentric chromosome 15 syndrome ? | Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the se... | Isodicentric chromosome 15 syndrome |
What is (are) Tietz syndrome ? | Tietz syndrome is a rare condition that affects the development of melanocytes, the cells in our body that produce and contain melanin (the pigment that gives color to skin, hair, and eyes). Signs and symptoms of this condition are present from birth and usually include sensorineural hearing loss, fair skin, and light-... | Tietz syndrome |
What are the symptoms of Tietz syndrome ? | What are the signs and symptoms of Tietz syndrome? The signs and symptoms of Tietz syndrome are usually present at birth and may include: Severe, bilateral (both ears) sensorineural hearing loss Fair skin Light-colored hair Blue eyes The Human Phenotype Ontology provides the following list of signs and symptoms for Tie... | Tietz syndrome |
How to diagnose Tietz syndrome ? | How is Tietz syndrome diagnosed? A diagnosis of Tietz syndrome is suspected in people with severe, bilateral (both ears) sensorineural hearing loss; fair skin; and light-colored hair. Identification of a change (mutation) in the MITF gene also supports this diagnosis. Diagnosing Tietz syndrome can be complicated since ... | Tietz syndrome |
What is (are) Autosomal recessive pseudohypoaldosteronism type 1 ? | Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially dangerous in the newborn period. Laboratory tests may... | Autosomal recessive pseudohypoaldosteronism type 1 |
What are the symptoms of Autosomal recessive pseudohypoaldosteronism type 1 ? | What are the signs and symptoms of Autosomal recessive pseudohypoaldosteronism type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive pseudohypoaldosteronism type 1. If the information is available, the table below includes how often the symptom is seen in people ... | Autosomal recessive pseudohypoaldosteronism type 1 |
What is (are) Idiopathic thrombocytopenic purpura ? | Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. With treatme... | Idiopathic thrombocytopenic purpura |
What are the symptoms of Idiopathic thrombocytopenic purpura ? | What are the signs and symptoms of Idiopathic thrombocytopenic purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic thrombocytopenic purpura. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Idiopathic thrombocytopenic purpura |
What are the symptoms of Wiedemann Oldigs Oppermann syndrome ? | What are the signs and symptoms of Wiedemann Oldigs Oppermann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wiedemann Oldigs Oppermann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Wiedemann Oldigs Oppermann syndrome |
What are the symptoms of Spastic paraplegia 16 ? | What are the signs and symptoms of Spastic paraplegia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 16. 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... | Spastic paraplegia 16 |
What is (are) Actinomycosis ? | Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in t... | Actinomycosis |
What are the symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 17 ? | What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 17. If the information is available, the table below includes how often the symptom is... | Deafness, autosomal dominant nonsyndromic sensorineural 17 |
What are the symptoms of Pseudoprogeria syndrome ? | What are the signs and symptoms of Pseudoprogeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoprogeria 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... | Pseudoprogeria syndrome |
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... | Alopecia-intellectual disability syndrome |
What is (are) Tumor necrosis factor receptor-associated periodic syndrome ? | Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an inherited condition characterized by recurrent episodes of fever. Episodes can begin at any age but most often begin in early childhood. Fevers typically last about 3 weeks but can last from a few days to a few months. The amount of time between ... | Tumor necrosis factor receptor-associated periodic syndrome |
What are the symptoms of Tumor necrosis factor receptor-associated periodic syndrome ? | What are the signs and symptoms of Tumor necrosis factor receptor-associated periodic syndrome? The characteristic feature of TRAPS is recurrent episodes of fever. Episodes may begin at any age, but most often begin in early childhood. Fevers usually last around 3 weeks but can last from days to months. The time betwee... | Tumor necrosis factor receptor-associated periodic syndrome |
What causes Tumor necrosis factor receptor-associated periodic syndrome ? | What causes tumor necrosis factor receptor-associated periodic syndrome (TRAPS)? TRAPS is a genetic condition caused by mutations in a gene called TNFRSF1A. This gene gives the body instructions to make a protein called tumor necrosis factor receptor 1 (TNFR1). This protein exists in cell membranes where it binds to an... | Tumor necrosis factor receptor-associated periodic syndrome |
Is Tumor necrosis factor receptor-associated periodic syndrome inherited ? | How is tumor necrosis factor receptor-associated periodic syndrome (TRAPS) inherited? TRAPS is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant... | Tumor necrosis factor receptor-associated periodic syndrome |
What are the treatments for Tumor necrosis factor receptor-associated periodic syndrome ? | How might tumor necrosis factor receptor-associated periodic syndrome (TRAPS) be treated? While there is no proven treatment for TRAPS, non steroidal anti-inflammatory drugs (NSAIDS) may be used to relieve symptoms of fever, and corticosteroids may be used to reduce severity of symptoms in most people. However, these m... | Tumor necrosis factor receptor-associated periodic syndrome |
What is (are) Stickler syndrome type 1 ? | Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predomina... | Stickler syndrome type 1 |
What are the symptoms of Stickler syndrome type 1 ? | What are the signs and symptoms of Stickler syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Stickler 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 MedlinePlus Med... | Stickler syndrome type 1 |
What are the symptoms of Zunich neuroectodermal syndrome ? | What are the signs and symptoms of Zunich neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zunich neuroectodermal 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 M... | Zunich neuroectodermal syndrome |
What are the symptoms of Tubulointerstitial nephritis and uveitis ? | What are the signs and symptoms of Tubulointerstitial nephritis and uveitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Tubulointerstitial nephritis and uveitis. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Tubulointerstitial nephritis and uveitis |
What are the symptoms of Banki syndrome ? | What are the signs and symptoms of Banki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Banki 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... | Banki syndrome |
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... | Severe congenital neutropenia X-linked |
What are the symptoms of Macrothrombocytopenia progressive deafness ? | What are the signs and symptoms of Macrothrombocytopenia progressive deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrothrombocytopenia progressive deafness. If the information is available, the table below includes how often the symptom is seen in people with this condit... | Macrothrombocytopenia progressive deafness |
What is (are) Klinefelter syndrome ? | Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also experience primary hypogon... | Klinefelter syndrome |
What are the symptoms of Klinefelter syndrome ? | What are the signs and symptoms of Klinefelter syndrome? The signs and symptoms of Klinefelter syndrome (KS) vary among affected people. Some men with KS have no symptoms of the condition or are only mildy affected. In these cases, they may not even know that they are affected by KS. When present, symptoms may include:... | Klinefelter syndrome |
What causes Klinefelter syndrome ? | What causes Klinefelter syndrome? Klinefelter syndrome usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or mo... | Klinefelter syndrome |
Is Klinefelter syndrome inherited ? | Is Klinefelter syndrome inherited? Klinefelter syndrome is not inherited, but usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sper... | Klinefelter syndrome |
How to diagnose Klinefelter syndrome ? | How is Klinefelter syndrome diagnosed? A diagnosis of Klinefelter syndrome is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally includes a chromosomal analysis (called a karyotype). It is also possible to diagnosis... | Klinefelter syndrome |
What are the treatments for Klinefelter syndrome ? | How might Klinefelter syndrome be treated? Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. When a diagnosis is made, treatment is based on the signs and symptoms present in each person. This may include: Educational interventions - As children, many ... | Klinefelter syndrome |
What is (are) Juvenile spondyloarthropathy ? | Juvenile spondyloarthropathy refers to a group of rheumatic diseases that develop during childhood and are characterized by inflammation of the entheses (the regions where tendons or ligaments attach to bones) and joints. The joints of the lower extremities are generally affected first followed by the sacroiliac joints... | Juvenile spondyloarthropathy |
What is (are) Borjeson-Forssman-Lehmann syndrome ? | Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family. BFLS is caused by mutations in the PHF6 gene on the X chrom... | Borjeson-Forssman-Lehmann syndrome |
What are the symptoms of Borjeson-Forssman-Lehmann syndrome ? | What are the signs and symptoms of Borjeson-Forssman-Lehmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Borjeson-Forssman-Lehmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | Borjeson-Forssman-Lehmann syndrome |
What is (are) Lactate dehydrogenase deficiency ? | Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of lactate dehydrogenase deficiency: lactate dehydrogenase A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase B deficiency... | Lactate dehydrogenase deficiency |
What are the symptoms of Dermatoleukodystrophy ? | What are the signs and symptoms of Dermatoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoleukodystrophy. 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... | Dermatoleukodystrophy |
What are the symptoms of Progressive familial heart block type 1A ? | What are the signs and symptoms of Progressive familial heart block type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive familial heart block type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Progressive familial heart block type 1A |
What are the symptoms of Bardet-Biedl syndrome 10 ? | What are the signs and symptoms of Bardet-Biedl syndrome 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 10. 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... | Bardet-Biedl syndrome 10 |
What are the symptoms of Sulfite oxidase deficiency ? | What are the signs and symptoms of Sulfite oxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Sulfite oxidase 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... | Sulfite oxidase deficiency |
What is (are) Sideroblastic anemia pyridoxine-refractory autosomal recessive ? | Sideroblastic anemia pyridoxine-refractory autosomal recessive is an inherited blood disorder that is characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnorma... | Sideroblastic anemia pyridoxine-refractory autosomal recessive |
What are the symptoms of Sideroblastic anemia pyridoxine-refractory autosomal recessive ? | What are the signs and symptoms of Sideroblastic anemia pyridoxine-refractory autosomal recessive? The symptoms of sideroblastic anemia are the same as for any anemia and iron overload. These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain. Physical findings may... | Sideroblastic anemia pyridoxine-refractory autosomal recessive |
What causes Sideroblastic anemia pyridoxine-refractory autosomal recessive ? | What causes sideroblastic anemia pyridoxine-refractory autosomal recessive? Sideroblastic anemia pyridoxine-refractory autosomal recessive is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion. Click here to learn more about autosomal recessive inheritance. | Sideroblastic anemia pyridoxine-refractory autosomal recessive |
What are the treatments for Sideroblastic anemia pyridoxine-refractory autosomal recessive ? | How might sideroblastic anemia pyridoxine-refractory autosomal recessive be treated? Currently there is not a cure for sideroblastic anemia pyridoxine-refractory autosomal recessive, however with proper treatment the life-expectancy of people with this anemia can be close to normal. Treatments are aimed at preventing o... | Sideroblastic anemia pyridoxine-refractory autosomal recessive |
What are the symptoms of Agammaglobulinemia, non-Bruton type ? | What are the signs and symptoms of Agammaglobulinemia, non-Bruton type? The Human Phenotype Ontology provides the following list of signs and symptoms for Agammaglobulinemia, non-Bruton type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Agammaglobulinemia, non-Bruton type |
What is (are) Majeed syndrome ? | Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. The two main features of this condition are chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia (CDA). CRMO causes recurrent episodes of pain and joint swelling which can lead to... | Majeed syndrome |
What are the symptoms of Majeed syndrome ? | What are the signs and symptoms of Majeed syndrome? Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. There are two main features of Majeed syndrome: Chronic recurrent multifocal osteomyelitis (CRMO), an inflammatory bone condition which causes recurrent episodes of... | Majeed syndrome |
What causes Majeed syndrome ? | What causes Majeed syndrome? Majeed syndrome is caused by mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats. It may also be involved in controlling inflammation and play a role in cell divisio... | Majeed syndrome |
Is Majeed syndrome inherited ? | How is Majeed syndrome inherited? Majeed syndrome 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. Although carriers typically do not show signs and... | Majeed syndrome |
What are the treatments for Majeed syndrome ? | How might Majeed syndrome be treated? Treatment is based upon the symptoms present. Chronic recurrent multifocal osteomyelitis (CRMO) is treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy to avoid disuse atrophy of muscles and contractures. If CRMO does not respond to NSAIDs, corticosteroid... | Majeed syndrome |
What are the symptoms of Hairy palms and soles ? | What are the signs and symptoms of Hairy palms and soles? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy palms and soles. 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... | Hairy palms and soles |
What is (are) Dextrocardia with situs inversus ? | Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the or... | Dextrocardia with situs inversus |
What causes Dextrocardia with situs inversus ? | What causes dextrocardia with situs inversus? The exact cause of dextrocardia with situs inversus is not known, but the condition results from the abnormal positioning of the internal organs during fetal development. More than 60 known genes are important for the proper positioning and patterning of the organs in the b... | Dextrocardia with situs inversus |
Is Dextrocardia with situs inversus inherited ? | Is dextrocardia with situs inversus inherited? In most cases of dextrocardia with situs inversus, a specific genetic cause has not been identified and inheritance patterns have not been confirmed. However, approximately 25% of affected people have primary ciliary dyskinesia, which is typically inherited in an autosomal... | Dextrocardia with situs inversus |
How to diagnose Dextrocardia with situs inversus ? | How is dextrocardia with situs inversus diagnosed? In some cases, a diagnosis of dextrocardia with situs inversus is suspected based on the presence of concerning signs and symptoms; however, it is often discovered by chance when an x-ray or ultrasound is performed to investigate a different condition. Computed tomogra... | Dextrocardia with situs inversus |
What are the treatments for Dextrocardia with situs inversus ? | How might dextrocardia with situs inversus be treated? Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus. For example, infants born with congenital heart defects or other organ malformations may require surgery. The management of people aff... | Dextrocardia with situs inversus |
What are the symptoms of Chudley Rozdilsky syndrome ? | What are the signs and symptoms of Chudley Rozdilsky syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chudley Rozdilsky 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... | Chudley Rozdilsky syndrome |
What is (are) Tracheobronchopathia osteoplastica ? | Tracheobronchopathia osteoplastica (TO) is a rare condition of the large airways. It is characterized by the presence of multiple growths (nodules) made of bone and cartilage tissue, in the submucosa of the tracheobronchial wall. The nodules protrude into the spaces inside the trachea and bronchi, which can lead to air... | Tracheobronchopathia osteoplastica |
What are the symptoms of Tracheobronchopathia osteoplastica ? | What are the signs and symptoms of Tracheobronchopathia osteoplastica? Symptoms of tracheobronchopathia osteoplastica (TO) may be absent or non-specific. Affected people may have various respiratory symptoms such as cough, wheezing, coughing up blood (hemoptysis), and/or recurrent upper airway infections. Stridor and l... | Tracheobronchopathia osteoplastica |
What causes Tracheobronchopathia osteoplastica ? | What causes tracheobronchopathia osteoplastica? The underlying cause of tracheobronchopathia osteoplastica (TO) remains unknown. Several theories have been proposed, including chronic airway inflammation, exostosis (formation of new bone), and metaplasia (abnormal cell changes) in the affected tissue. Numerous cases ha... | Tracheobronchopathia osteoplastica |
Is Tracheobronchopathia osteoplastica inherited ? | Is tracheobronchopathia osteoplastica inherited? There is no known genetic susceptibility to the development of TO, and it typically occurs in people with no known history of the condition in their family. Familial occurrence has been reported only once, in a woman and her daughter. | Tracheobronchopathia osteoplastica |
How to diagnose Tracheobronchopathia osteoplastica ? | How is tracheobronchopathia osteoplastica diagnosed? Fiberoptic bronchoscopy is thought to be the best procedure to diagnose tracheobronchopathia osteoplastica (TO). This procedure is done when it is important to see the airways or to get samples of mucus or tissue from the lungs. It involves placing a thin, tube-like ... | Tracheobronchopathia osteoplastica |
What are the treatments for Tracheobronchopathia osteoplastica ? | How might tracheobronchopathia osteoplastica be treated? There is no specific treatment for tracheobronchopathia osteoplastica (TO). Recurrent infections and collapse of the lung are treated conventionally. Inhaled corticosteroids may have some impact on people in early stages of the condition, but whether they may be ... | Tracheobronchopathia osteoplastica |
What are the symptoms of Carney triad ? | What are the signs and symptoms of Carney triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney triad. 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 ... | Carney triad |
What are the symptoms of Woodhouse Sakati syndrome ? | What are the signs and symptoms of Woodhouse Sakati syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woodhouse Sakati 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 M... | Woodhouse Sakati syndrome |
What are the symptoms of Hypercholesterolemia, autosomal dominant ? | What are the signs and symptoms of Hypercholesterolemia, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypercholesterolemia, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Hypercholesterolemia, autosomal dominant |
What is (are) Keratoconus ? | Keratoconus is the degeneration of the structure of the cornea, which is the clear tissue covering the front of the eye. In this condition, the shape of the cornea slowly changes from the normal round shape to a cone shape. Most people who develop keratoconus start out nearsighted, which tends to become worse over time... | Keratoconus |
What are the symptoms of Keratoconus ? | What are the signs and symptoms of Keratoconus? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoconus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up... | Keratoconus |
What are the treatments for Keratoconus ? | What causes keratoconus? The exact cause of keratoconus is unknown. Both genetic and environmental factors may play a role in the development of keratoconus. The genetic factors involve abnormalities in the structure of collagen, which result in a weak and flexible cornea. Keratoconus is more common in people with Down... | Keratoconus |
What are the symptoms of Spinocerebellar ataxia 26 ? | What are the signs and symptoms of Spinocerebellar ataxia 26? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 26. 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... | Spinocerebellar ataxia 26 |
What is (are) Acute alcohol sensitivity ? | Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in... | Acute alcohol sensitivity |
What are the symptoms of Acute alcohol sensitivity ? | What are the signs and symptoms of Acute alcohol sensitivity ? The Human Phenotype Ontology provides the following list of signs and symptoms for Acute alcohol sensitivity . 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... | Acute alcohol sensitivity |
What are the symptoms of RHYNS syndrome ? | What are the signs and symptoms of RHYNS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for RHYNS 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... | RHYNS syndrome |
What are the symptoms of Multiple pterygium syndrome X-linked ? | What are the signs and symptoms of Multiple pterygium syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Multiple pterygium syndrome X-linked |
What are the symptoms of Deafness conductive ptosis skeletal anomalies ? | What are the signs and symptoms of Deafness conductive ptosis skeletal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness conductive ptosis skeletal anomalies. If the information is available, the table below includes how often the symptom is seen in people with this ... | Deafness conductive ptosis skeletal anomalies |
What is (are) Dopa-responsive dystonia ? | Dopa-responsive dystonia (DRD) is an inherited type of dystonia that typically begins during childhood but may begin in adolescence or adulthood. Depending on the specific type of DRD, specific symptoms can vary. Features can range from mild to severe. In most cases, dystonia begins in the lower limbs and spreads to th... | Dopa-responsive dystonia |
What are the symptoms of Dopa-responsive dystonia ? | What are the signs and symptoms of Dopa-responsive dystonia? The most common form of dopa-responsive dystonia (DRD) is autosomal dominant DRD (caused by a mutation in the GCH1 gene). This form of DRD is usually characterized by childhood-onset dystonia that may be associated with parkinsonism at an older age. The avera... | Dopa-responsive dystonia |
Is Dopa-responsive dystonia inherited ? | How is dopa-responsive dystonia inherited? Depending on the genetic cause of dopa-responsive dystonia (DRD), it may be inherited in an autosomal dominant or autosomal recessive manner. When DRD is caused by mutations in the GCH1 gene, it is inherited in an autosomal dominant manner. This means that having a mutation in... | Dopa-responsive dystonia |
How to diagnose Dopa-responsive dystonia ? | How is dopa-responsive dystonia diagnosed? Dopa-responsive dystonia (DRD) is diagnosed based on the signs and symptoms present, results of laboratory tests (sometimes including genetic testing), and response to therapy with levodopa. If DRD is suspected, a therapeutic trial with low doses of levodopa remains the most p... | Dopa-responsive dystonia |
What is (are) Juvenile amyotrophic lateral sclerosis ? | Juvenile amyotrophic lateral sclerosis (ALS) is a type of motor neuron disease which leads to problems with muscle control and movement. Signs and symptoms of juvenile ALS tend to present by age 25 years or younger. Unlike other types of ALS, juvenile ALS is not rapidly progressive. People with juvenile ALS can have a... | Juvenile amyotrophic lateral sclerosis |
What are the symptoms of Juvenile amyotrophic lateral sclerosis ? | What are the signs and symptoms of juvenile amyotrophic lateral sclerosis? Signs and symptoms of juvenile ALS vary but include slowly to very slowly progressive muscle weakness, increased muscle tone, Babinski reflex, muscle spasm (clonus), exaggerated reflexes, muscle wasting, and muscle twitching. Juvenile ALS usuall... | Juvenile amyotrophic lateral sclerosis |
What causes Juvenile amyotrophic lateral sclerosis ? | What causes juvenile amyotrophic lateral sclerosis? Juvenile amyotrophic lateral sclerosis (ALS) is often genetic and may be caused by mutations in the ALS2 or SETX genes. In some cases the underlying gene abnormality cannot be determined. Juvenile ALS may be inherited in an autosomal dominant (as in ALS type 4) or aut... | Juvenile amyotrophic lateral sclerosis |
What are the treatments for Juvenile amyotrophic lateral sclerosis ? | How might juvenile amyotrophic lateral sclerosis be treated? Treatments and therapies are available to relieve symptoms and improve the quality of life of people with juvenile ALS. Medications, such as those that reduce fatigue and ease muscle cramps are available. Physical therapy and special equipment can be helpful.... | Juvenile amyotrophic lateral sclerosis |
What are the symptoms of Amaurosis congenita cone-rod type with congenital hypertrichosis ? | What are the signs and symptoms of Amaurosis congenita cone-rod type with congenital hypertrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amaurosis congenita cone-rod type with congenital hypertrichosis. If the information is available, the table below includes how often th... | Amaurosis congenita cone-rod type with congenital hypertrichosis |
What are the symptoms of Spinocerebellar degeneration and corneal dystrophy ? | What are the signs and symptoms of Spinocerebellar degeneration and corneal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar degeneration and corneal dystrophy. If the information is available, the table below includes how often the symptom is seen in people ... | Spinocerebellar degeneration and corneal dystrophy |
What is (are) Usher syndrome, type 1B ? | Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. A... | Usher syndrome, type 1B |
What are the symptoms of Usher syndrome, type 1B ? | What are the signs and symptoms of Usher syndrome, type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1B. 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... | Usher syndrome, type 1B |
Is Usher syndrome, type 1B inherited ? | How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a ca... | Usher syndrome, type 1B |
What is (are) 15q11.2 microdeletion ? | 15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language ... | 15q11.2 microdeletion |
What are the symptoms of 15q11.2 microdeletion ? | What are the signs and symptoms of 15q11.2 microdeletion? The signs and symptoms in people with a 15q11.2 microdeletion can vary widely. Some people with the microdeletion don't have any apparent features, while others are more severely affected. When not all people with a genetic abnormality are affected, the conditio... | 15q11.2 microdeletion |
What causes 15q11.2 microdeletion ? | What causes a 15q11.2 microdeletion? A 15q11.2 microdeletion may occur randomly for the first time in an affected person (a de novo mutation), or it may be inherited from a parent with the microdeletion. A blood test to look at the parents' chromosomes is needed to find out how the microdeletion occurred. When a 15q11.... | 15q11.2 microdeletion |
What is (are) Noonan syndrome 1 ? | 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... | Noonan syndrome 1 |
What are the symptoms of Noonan syndrome 1 ? | What are the signs and symptoms of Noonan syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 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 Dictionar... | Noonan syndrome 1 |
What are the treatments for Noonan syndrome 1 ? | 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... | Noonan syndrome 1 |
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