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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... |
What are the symptoms of Osteopenia and sparse hair ? | What are the signs and symptoms of Osteopenia and sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopenia and sparse hair. 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 Cortisone reductase deficiency ? | What are the signs and symptoms of Cortisone reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Cortisone reductase 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... |
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 ... |
What are the symptoms of Dopamine beta hydroxylase deficiency ? | What are the signs and symptoms of Dopamine beta hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dopamine 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... |
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... |
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... |
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... |
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... |
What are the symptoms of Torg Winchester syndrome ? | What are the signs and symptoms of Torg Winchester syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Torg Winchester 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... |
What are the symptoms of Mesomelic dwarfism of hypoplastic tibia and radius type ? | What are the signs and symptoms of Mesomelic dwarfism of hypoplastic tibia and radius type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dwarfism of hypoplastic tibia and radius type. If the information is available, the table below includes how often the symptom is seen ... |
What are the symptoms of Sea-Blue histiocytosis ? | What are the signs and symptoms of Sea-Blue histiocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Sea-Blue histiocytosis. 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 are the symptoms of Blepharoptosis myopia ectopia lentis ? | What are the signs and symptoms of Blepharoptosis myopia ectopia lentis? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharoptosis myopia ectopia lentis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
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... |
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... |
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 ... |
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... |
What is (are) IBIDS syndrome ? | Tay syndrome is a rare genetic disorder characterized by congenital ichthyosis (dry, fish-like scaly skin present at birth) and abnormal brittle hair (trichothiodystrophy). |
What are the symptoms of IBIDS syndrome ? | What are the signs and symptoms of IBIDS syndrome? The most common symptoms of Tay syndrome are brittle hair (trichothiodystrophy); dry, thickened, scaling skin (ichthyosis); photosensitivity (abnormal light sensitivity); abnormal nails; and multiple developmental defects. Other features include: low birth weight, shor... |
Is IBIDS syndrome inherited ? | What causes Tay syndrome? How is it inherited? Although Tay syndrome is known to be genetic, the gene(s) associated with the condition is(are) unknown. Tay syndrome is inherited in an autosomal recessive pattern , which means two copies of the gene in each cell are altered (mutated). If both parents carry the gene for ... |
What are the treatments for IBIDS syndrome ? | What treatment is available for Tay syndrome? Treatments for Tay syndrome are symptomatic. There is no cure for ichthyosis, only treatments to help manage symptoms. The main treatment for ichthyosis is to hydrate (moisturize) the skin, hold in the moisture, and keep scale thickness to a minimum. |
What are the symptoms of Leri pleonosteosis ? | What are the signs and symptoms of Leri pleonosteosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leri pleonosteosis. 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 Diction... |
What are the symptoms of Ichthyosis prematurity syndrome ? | What are the signs and symptoms of Ichthyosis prematurity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis prematurity 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... |
What is (are) Human T-cell leukemia virus type 2 ? | Human T-cell leukemia virus, type 2 (HTLV-2) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, scientists suspect that some affected people may later develop neurological problems and/or chronic lung infections. HTLV-2 is spread by... |
What are the symptoms of Human T-cell leukemia virus type 2 ? | What are the signs and symptoms of human T-cell leukemia virus, type 2? Human T-cell leukemia virus, type 2 (HTLV-2) generally causes no signs or symptoms. Although HTLV-2 has not been definitively linked with any specific health problems, scientists suspect that some affected people may later develop neurological prob... |
What causes Human T-cell leukemia virus type 2 ? | What causes human T-cell leukemia virus, type 2? Human T-cell leukemia virus, type 2 (HTLV-2) occurs when a person is infected by the human T-cell leukemia retrovirus. HTLV-2 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. I... |
How to diagnose Human T-cell leukemia virus type 2 ? | How is human T-cell leukemia virus, type 2 diagnosed? Human T-cell leukemia virus, type 2 (HTLV-2) is usually diagnosed based on blood tests that detect antibodies to the virus. However, HTLV-2 is often never suspected or diagnosed since most people never develop any signs or symptoms of the infection. Diagnosis may oc... |
What are the treatments for Human T-cell leukemia virus type 2 ? | How might human T-cell leukemia virus, type 2 be treated? No cure or treatment exists for human T-cell leukemia virus, type 2 (HTLV-2). Management is focused on early detection and preventing the spread of HTLV-2 to others. Screening blood doners, promoting safe sex and discouraging needle sharing can decrease the numb... |
What is (are) Spondylocarpotarsal synostosis syndrome ? | Spondylocarpotarsal synostosis (SCT) syndrome is an inherited syndrome characterized by disproportionate short stature, abnormalities of the vertebrae in the spine, scoliosis and lordosis, carpal and tarsal fusion (fusion of the bones in the hands and feet), clubfoot, and facial abnormalities such as round face, large ... |
What are the symptoms of Spondylocarpotarsal synostosis syndrome ? | What are the signs and symptoms of Spondylocarpotarsal synostosis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocarpotarsal synostosis syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... |
What are the symptoms of Glomerulopathy with fibronectin deposits 1 ? | What are the signs and symptoms of Glomerulopathy with fibronectin deposits 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 1. If the information is available, the table below includes how often the symptom is seen in people with this condit... |
What is (are) Epidermolysis bullosa acquisita ? | Epidermolysis bullosa acquisita (EBA) is a rare autoimmune disorder that causes the skin to blister in response to minor injury. Common areas of blistering include the hands, feet, knees, elbows, and buttocks. It can also affect the mouth, nose, and eyes. Some affected people have other health problems such as Crohn's ... |
What are the symptoms of Epidermolysis bullosa acquisita ? | What are the signs and symptoms of Epidermolysis bullosa acquisita? Symptoms of epidermolysis bullosa acquisita (EBA) usually occur in a person's 30s or 40s. The signs and symptoms can differ among affected people, and the condition has several distinct forms of onset. For example: Non-inflammatory or mildly inflammato... |
What causes Epidermolysis bullosa acquisita ? | What causes epidermolysis bullosa acquisita? The underlying cause of epidermolysis bullosa acquisita (EBA) is not known. It is thought to be an autoimmune disorder, which means that the immune system attacks healthy cells by mistake. In EBA, certain immune proteins (usually IgG autoantibodies) mistakenly target and att... |
Is Epidermolysis bullosa acquisita inherited ? | Is epidermolysis bullosa acquisita inherited? Unlike the genetic forms of epidermolysis bullosa, epidermolysis bullosa acquisita (EBA) is considered an acquired, sporadic disease. This means that it generally occurs in people with no history of the condition in their families. There have been a couple of reports of fam... |
What are the treatments for Epidermolysis bullosa acquisita ? | How might epidermolysis bullosa acquisita be treated? |
What are the symptoms of Gorlin Bushkell Jensen syndrome ? | What are the signs and symptoms of Gorlin Bushkell Jensen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gorlin Bushkell Jensen 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... |
What are the symptoms of Miles-Carpenter x-linked mental retardation syndrome ? | What are the signs and symptoms of Miles-Carpenter x-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miles-Carpenter x-linked mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in peo... |
What are the symptoms of Maternal hyperphenylalaninemia ? | What are the signs and symptoms of Maternal hyperphenylalaninemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Maternal hyperphenylalaninemia. 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) 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... |
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... |
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. |
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... |
What are the symptoms of Familial joint instability syndrome ? | What are the signs and symptoms of Familial joint instability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial joint instability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
What is (are) D-2-alpha hydroxyglutaric aciduria ? | D-2-alpha hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such ... |
What are the symptoms of D-2-alpha hydroxyglutaric aciduria ? | What are the signs and symptoms of D-2-alpha hydroxyglutaric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for D-2-alpha hydroxyglutaric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... |
What is (are) Wolman disease ? | Wolman disease is a type of lysosomal storage disorder. It is an inherited condition that causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmen... |
What are the symptoms of Wolman disease ? | What are the signs and symptoms of Wolman disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Wolman 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 l... |
What are the treatments for Wolman disease ? | How can I find additional comprehensive information on the treatment of Wolman disease? You can find relevant journal articles on Wolman syndrome and its treatment through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing detai... |
What are the symptoms of Tetralogy of fallot and glaucoma ? | What are the signs and symptoms of Tetralogy of fallot and glaucoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetralogy of fallot and glaucoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... |
What are the symptoms of Intrauterine growth retardation with increased mitomycin C sensitivity ? | What are the signs and symptoms of Intrauterine growth retardation with increased mitomycin C sensitivity? The Human Phenotype Ontology provides the following list of signs and symptoms for Intrauterine growth retardation with increased mitomycin C sensitivity. If the information is available, the table below includes ... |
What are the symptoms of Frias syndrome ? | What are the signs and symptoms of Frias syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Frias 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 symptoms of Familial dilated cardiomyopathy ? | What are the signs and symptoms of Familial dilated cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dilated cardiomyopathy. 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 is (are) Hemolytic uremic syndrome, atypical, childhood ? | Hemolytic uremic syndrome, atypical, childhood is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. It is often caused by a combi... |
What is (are) Lattice corneal dystrophy type 1 ? | Lattice corneal dystrophy is a type of stromal dystrophy. It is characterized by the build up of protein fibers (i.e., amyloid) in the stroma. Symptoms may include corneal erosions, decreased vision, photosensitivity, and eye pain. Most cases of lattice dystrophy are caused by mutations in the TGFBI gene. |
What are the symptoms of Lattice corneal dystrophy type 1 ? | What are the signs and symptoms of Lattice corneal dystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy 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... |
What are the symptoms of Proximal chromosome 18q deletion syndrome ? | What are the signs and symptoms of Proximal chromosome 18q deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Proximal chromosome 18q deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this conditio... |
What are the symptoms of PCDH19-related female-limited epilepsy ? | What are the signs and symptoms of PCDH19-related female-limited epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for PCDH19-related female-limited epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... |
What is (are) Pretibial epidermolysis bullosa ? | Pretibial epidermolysis bullosa is a rare form of epidermolysis bullosa, a condition characterized by fragile skin that blisters easily in response to minor injury or friction. In the pretibial form, specifically, the characteristic blisters and skin erosions develop predominantly on the front of the lower legs (known ... |
What are the symptoms of Pretibial epidermolysis bullosa ? | What are the signs and symptoms of Pretibial epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Pretibial 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 M... |
What is (are) Systemic scleroderma ? | Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. It is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The fibrosis is caused by the body's production of too much collagen, which normally strengthens and supports connective tissues. The signs... |
What are the symptoms of Systemic scleroderma ? | What are the signs and symptoms of Systemic scleroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Systemic scleroderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic... |
What causes Systemic scleroderma ? | What causes systemic scleroderma? The exact, underlying cause of systemic sclerosis is unknown. The cause appears to involve some injury to the cells that line blood vessels, resulting in excessive activation of dermal connective tissue cells, called fibroblasts. Fibroblasts normally produce collagen and other proteins... |
Is Systemic scleroderma inherited ? | Is systemic scleroderma inherited? Most cases of systemic scleroderma are sporadic and are not inherited. This means the condition typically occurs in people with no history of the condition in their family. Some people with systemic scleroderma have relatives with other autoimmune disorders, and a few cases of the con... |
How to diagnose Systemic scleroderma ? | Is genetic testing available for systemic scleroderma? Because systemic scleroderma is not caused by a mutation in any one specific gene, clinical genetic testing to confirm a diagnosis or identify a "carrier" is not currently available. Even if someone is known to carry a version of a gene that may make them suscepti... |
What is (are) Celiac artery compression syndrome ? | Celiac artery compression syndrome is a rare disorder characterized by chronic, recurrent abdominal pain related to compression of the celiac artery (which supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm). It usually presents with symptoms of abdomi... |
What are the symptoms of Celiac artery compression syndrome ? | What are the signs and symptoms of celiac artery compression syndrome? Classically, individuals with celiac artery compression syndrome present with a triad of abdominal pain after eating, weight loss (usually >20 pounds), and abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). One review fou... |
What causes Celiac artery compression syndrome ? | What causes celiac artery compression syndrome? The cause of celiac artery syndrome is disputed. While it was initially thought to be caused by a restriction of blood supply secondary to compression of the celiac artery (supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous ba... |
How to diagnose Celiac artery compression syndrome ? | How is celiac artery compression syndrome diagnosed? A diagnosis of celiac artery compression syndrome might be suspected in middle aged (40-60) female patients with a triad of symptoms including abdominal pain after eating, weight loss, and abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). A... |
What are the treatments for Celiac artery compression syndrome ? | How might celiac artery compression syndrome be treated? Surgery is currently the only treatment option for celiac artery compression syndrome. Surgery typically involves decompression of the celiac artery by dividing the fibers of the median arcuate ligament and celiac plexus (network of nerves in the abdomen). Surgic... |
What are the symptoms of Premature aging Okamoto type ? | What are the signs and symptoms of Premature aging Okamoto type? The Human Phenotype Ontology provides the following list of signs and symptoms for Premature aging Okamoto 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 Medline... |
What is (are) 22q11.2 deletion syndrome ? | 22q11.2 deletion syndrome is a spectrum disorder that includes conditions formerly called DiGeorge syndrome; velocardiofacial syndrome; conotruncal anomaly face syndrome; cases of Opitz G/BBB syndrome; and Cayler cardiofacial syndrome. The features and severity can vary greatly among affected people. Signs and symptoms... |
What are the symptoms of 22q11.2 deletion syndrome ? | What are the signs and symptoms of 22q11.2 deletion syndrome? Signs and symptoms of 22q11.2 deletion syndrome vary greatly from person to person, even among affected people in the same family. Symptoms may include: Heart defects (74% of individuals) Palatal abnormalities (69% of individuals) Characteristic facial featu... |
What causes 22q11.2 deletion syndrome ? | What causes 22q11.2 deletion syndrome? 22q11.2 deletion syndrome is caused by a missing piece (deletion) of part of chromosome 22 in each cell. The deletion occurs near the middle of the chromosome at a location designated q11.2. Most people with 22q11.2 deletion syndrome are missing a piece of the chromosome that cont... |
Is 22q11.2 deletion syndrome inherited ? | Is 22q11.2 deletion syndrome inherited? Most cases of 22q11.2 deletion syndrome are not inherited from a parent and are caused by a random error during the formation of egg or sperm cells, or during early fetal development. In about 10% of cases, the deletion is inherited from a parent with the deletion. All people wit... |
What are the symptoms of Early infantile epileptic encephalopathy 25 ? | What are the signs and symptoms of Early infantile epileptic encephalopathy 25? The Human Phenotype Ontology provides the following list of signs and symptoms for Early infantile epileptic encephalopathy 25. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
What are the symptoms of Limb deficiencies distal with micrognathia ? | What are the signs and symptoms of Limb deficiencies distal with micrognathia? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb deficiencies distal with micrognathia. If the information is available, the table below includes how often the symptom is seen in people with this condit... |
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-... |
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... |
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 ... |
What are the symptoms of Ablepharon macrostomia syndrome ? | What are the signs and symptoms of Ablepharon macrostomia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ablepharon macrostomia 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... |
What is (are) Laing distal myopathy ? | Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping w... |
What are the symptoms of Laing distal myopathy ? | What are the signs and symptoms of Laing distal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Laing distal myopathy. 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) Homocystinuria ? | Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form, called cystathionine beta-synthase deficiency, is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, skeletal abno... |
What are the symptoms of Autosomal dominant deafness-onychodystrophy syndrome ? | What are the signs and symptoms of Autosomal dominant deafness-onychodystrophy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant deafness-onychodystrophy syndrome. If the information is available, the table below includes how often the symptom is seen in peo... |
What is (are) Medium-chain acyl-coenzyme A dehydrogenase deficiency ? | Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to brea... |
What are the symptoms of Medium-chain acyl-coenzyme A dehydrogenase deficiency ? | What are the signs and symptoms of Medium-chain acyl-coenzyme A dehydrogenase deficiency? The initial signs and symptoms of medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) typically occur during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycem... |
What causes Medium-chain acyl-coenzyme A dehydrogenase deficiency ? | What causes medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency? Mutations in the ACADM gene cause medium-chain acyl-coenzyme A dehydrogenase deficiency. Mutations in the ACADM gene lead to inadequate levels of an enzyme called medium-chain acyl-coenzyme A dehydrogenase. Without sufficient amounts of this enzy... |
Is Medium-chain acyl-coenzyme A dehydrogenase deficiency inherited ? | How is medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency inherited? Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. Usually, the paren... |
How to diagnose Medium-chain acyl-coenzyme A dehydrogenase deficiency ? | How is medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) diagnosed? MCADD is now included in many newborn screening programs. If a newborn screening result for MCADD is not in the normal range, additional testing is recommended. A diagnosis of MCADD can be made through a blood test called a plasma acylcarni... |
What is (are) Klebsiella infection ? | Klebsiella infections refer to several different types of healthcare-associated infections that are all caused by the Klebsiella bacteria, including pneumonia; bloodstream infections; wound or surgical site infections; and meningitis. Healthy people usually do not get Klebsiella infections. However, people who are hosp... |
What are the symptoms of Klebsiella infection ? | What are the signs and symptoms of Klebsiella infections? The signs and symptoms of Klebsiella infections vary since Klebsiella bacteria can cause several different types of conditions. For example, community-acquired pneumonia is one common type of Klebsiella infection which can lead to lung damage and even death in s... |
What causes Klebsiella infection ? | What causes Klebsiella infections? Klebsiella infections refer to several different types of healthcare-associated infections that are all caused by the Klebsiella bacteria. These bacteria are usually found in human intestines where they do not cause infections. To get a Klebsiella infection, a person must be exposed t... |
How to diagnose Klebsiella infection ? | How are Klebsiella infections diagnosed? Klebsiella infections are usually diagnosed by examining a small sample of blood, mucus, and/or urine. Chest x-rays or positron emission tomography (PET scan) may also be used to further evaluate infections that affect the lungs such as community-acquired pneumonia. When a Klebs... |
What are the treatments for Klebsiella infection ? | How might Klebsiella infections be treated? The treatment of Klebsiella infections can be complicated since some Klebsiella bacteria are resistant to certain types of antibiotics. Once a person is diagnosed with one of these infections, a healthcare provider will usually order specialized laboratory testing (susceptibi... |
What are the symptoms of Dentin dysplasia, type 1 ? | What are the signs and symptoms of Dentin dysplasia, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dentin dysplasia, 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... |
What is (are) Lichen planus pigmentosus ? | Lichen planus pigmentosus (LPP) is a rare form of lichen planus. It is characterized by oval or irregularly shaped brown to gray-brown macules and patches on the skin. Areas that are exposed to sun such as the forehead, temples and neck are most commonly affected. However, the macules and patches may also develop on th... |
What are the symptoms of Lichen planus pigmentosus ? | What are the signs and symptoms of lichen planus pigmentosus? Lichen planus pigmentosus (LPP), a rare form of lichen planus, is characterized by oval or irregularly shaped brown to gray-brown macules and patches on the skin. Areas that are exposed to sun such as the forehead, temples and neck are most commonly affected... |
What causes Lichen planus pigmentosus ? | What causes lichen planus pigmentosus? The exact underlying cause of lichen planus pigmentosus is currently unknown. However, studies suggest that the condition may be triggered by viral infections, UV light or the application of certain oils on the hair or skin (i.e. mustard oil, amla oil). |
How to diagnose Lichen planus pigmentosus ? | How is lichen planus pigmentosus diagnosed? A diagnosis of lichen planus pigmentosus is usually suspected based on the presence of characteristic signs and symptoms. A skin biopsy may then be ordered to confirm the diagnosis. |
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