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How to diagnose Anophthalmia plus syndrome ? | How is anophthalmia plus syndrome diagnosed? A review of the available medical literature does not currently yield information about specific diagnostic criteria for anophthalmia plus syndrome (APS). Because APS is so rarely reported, specific diagnostic criteria may not exist. Anophthalmia and/or microphthalmia with oral-facial clefting occurs in a number of known syndromes; however, the other known syndromes typically have specific other features (such as limb abnormalities, deafness or other organ anomalies). A diagnosis of APS may be considered when an individual has the signs and symptoms most commonly reported in affected individuals, but other known syndromes with overlapping features have been ruled out. | |
What is (are) Littoral cell angioma of the spleen ? | Littoral cell angioma (LCA) is a vascular tumor of the spleen. A vascular tumor is an overgrowth of blood vessels. The condition was first described in 1991. In many cases, LCA does not produce any symptoms and is found when tests are being performed for other reasons (an incidental finding). However, in some cases, individuals with LCA have an enlarged spleen (splenomegaly), abdominal pain, fever, and portal hypertension (increased pressure in the vein that carries blood from the digestive organs to the liver). Though most reported cases of LCA have been benign, some reports have associated LCA with various other conditions including Crohn's disease, Gaucher disease, lymphoma, aplastic anemia, colon cancer, pancreatic cancer, lung cancer, and myelodysplastic syndrome. In rare cases, the LCA itself can become cancerous. The treatment of choice is usually removal of the spleen (splenectomy). | |
What are the symptoms of Spastic paraplegia 19 ? | What are the signs and symptoms of Spastic paraplegia 19? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 19. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ankle clonus - Autosomal dominant inheritance - Babinski sign - Hyperreflexia - Impaired vibration sensation in the lower limbs - Knee clonus - Lower limb muscle weakness - Lower limb spasticity - Slow progression - Spastic gait - Spastic paraplegia - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Glomerulopathy with fibronectin deposits 2 ? | What are the signs and symptoms of Glomerulopathy with fibronectin deposits 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 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 Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Edema of the lower limbs 90% Glomerulopathy 90% Hematuria 90% Hypertension 90% Nephrotic syndrome 90% Proteinuria 90% Renal insufficiency 90% Intracranial hemorrhage 7.5% Autosomal dominant inheritance - Generalized distal tubular acidosis - Microscopic hematuria - Renal cell carcinoma - Slow progression - Stage 5 chronic kidney disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of DCMA syndrome ? | What are the signs and symptoms of DCMA syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for DCMA 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 3-Methylglutaric aciduria - Autosomal recessive inheritance - Congestive heart failure - Cryptorchidism - Decreased testicular size - Dilated cardiomyopathy - Glutaric aciduria - Hypospadias - Intellectual disability - Intrauterine growth retardation - Microvesicular hepatic steatosis - Muscle weakness - Noncompaction cardiomyopathy - Nonprogressive cerebellar ataxia - Normochromic microcytic anemia - Optic atrophy - Prolonged QT interval - Sudden cardiac death - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Aquagenic pruritus ? | Aquagenic pruritus is a condition in which contact with water of any temperature causes intense itching without any visible skin changes. The symptoms may begin immediately after contact with water and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. The symptoms of the condition are similar to those seen in patients with other conditions; therefore, a thorough evaluation should be performed to rule out other more serious conditions. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying success. | |
What are the symptoms of Aquagenic pruritus ? | What symptoms are observed in patients who have aquagenic pruritus? Aquagenic pruritus causes intense itching in the parts of the body that come in contact with water without an associated rash. The head, palms, soles, and mucosa are usually not affected. | |
What causes Aquagenic pruritus ? | What causes aquagenic pruritus? The exact cause of aquagenic pruritus is unknown, but increased mast cell degranulation (release of granules rich in histamine and other compounds into the body by mast cells, a special type of cell that plays a role in the immune system), increased circulating histamine, release of acetylcholine (a chemical in the body which sends signals from nerves to muscles and between nerves in the brain), and increased skin fibrinolytic activity (activity that controls clot size by promoting the breakdown of clots) have all been named as possible causes of the condition. In some cases, it appears to be a symptom of polycythemia vera. | |
How to diagnose Aquagenic pruritus ? | How is aquagenic pruritus diagnosed? Criteria for diagnosis include : Severe itching, prickling, stinging, or burning that consistently develops after skin contact with water, regardless of water temperature or salinity; Lack of visible skin manifestations; Reaction within minutes of exposure and lasting anywhere between 10 minutes to 2 hours; Lack of a other skin disease, internal condition, or medication to account for the reaction; and Exclusion of all other physical urticarias, symptomatic dermographism, and polycythemia vera. | |
What are the treatments for Aquagenic pruritus ? | What treatment has been attempted in patients who have aquagenic pruritus? The underlying cause of aquagenic pruritus is not well understood which complicates the decision about what therapy might be best for treatment. Various options have been tried with varying success. Antihistamines are the mainstay of treatment. Other therapies that have been tried include adding adding sodium bicarbonate to bath water, topical capsaicin, selective serotonin reuptake inhibitors, UVB phototherapy, PUVA therapy, naltrexone, propranolol, and atenolol. | |
What are the symptoms of Craniosynostosis-mental retardation syndrome of Lin and Gettig ? | What are the signs and symptoms of Craniosynostosis-mental retardation syndrome of Lin and Gettig? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniosynostosis-mental retardation syndrome of Lin and Gettig. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of corpus callosum - Ambiguous genitalia, male - Arnold-Chiari type I malformation - Autosomal recessive inheritance - Blepharophimosis - Camptodactyly - Cleft palate - Craniosynostosis - Cryptorchidism - Decreased palmar creases - Dolichocephaly - Epicanthus - Feeding difficulties in infancy - Glabellar hemangioma - Hand clenching - Hydronephrosis - Hypertelorism - Hypertonia - Hypoplasia of midface - Hypoplastic philtrum - Hypospadias - Hypotelorism - Inguinal hernia - Intellectual disability, progressive - Intellectual disability, severe - Intestinal malrotation - Joint contracture of the hand - Long philtrum - Low-set ears - Malar flattening - Micropenis - Microtia - Multiple joint contractures - Multiple small bowel atresias - Narrow chest - Omphalocele - Pectus carinatum - Pectus excavatum - Ptosis - Sensorineural hearing impairment - Short columella - Short nose - Slender finger - Smooth philtrum - Stenosis of the external auditory canal - Strabismus - Supernumerary nipple - Thin vermilion border - Trigonocephaly - Turricephaly - Umbilical hernia - Upslanted palpebral fissure - Ventricular septal defect - Vesicoureteral reflux - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Methylmalonic acidemia with homocystinuria, type cblJ ? | What are the signs and symptoms of Methylmalonic acidemia with homocystinuria, type cblJ? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria, type cblJ. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atria septal defect 5% Cerebral atrophy 5% Coarctation of aorta 5% Cryptorchidism 5% Decreased methionine synthase activity 5% Decreased methylcobalamin 5% Gastroesophageal reflux 5% Hypertelorism 5% Pulmonary hypertension 5% Wide intermamillary distance 5% Abnormal posturing - Anemia - Autosomal recessive inheritance - Congenital onset - Decreased adenosylcobalamin - Feeding difficulties - Growth delay - Homocystinuria - Hyperhomocystinemia - Inguinal hernia - Lethargy - Methylmalonic acidemia - Methylmalonic aciduria - Muscular hypotonia - Neutropenia - Tachypnea - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Mucopolysaccharidosis type IV ? | What are the signs and symptoms of Mucopolysaccharidosis type IV? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IV. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Delayed skeletal maturation 90% Gait disturbance 90% Genu valgum 90% Hearing impairment 90% Joint hypermobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Pectus carinatum 90% Reduced bone mineral density 90% Short neck 90% Short stature 90% Short thorax 90% Abnormality of dental enamel 50% Abnormality of the heart valves 50% Abnormality of the hip bone 50% Anteverted nares 50% Carious teeth 50% Coarse facial features 50% Hernia 50% Hyperlordosis 50% Joint dislocation 50% Kyphosis 50% Platyspondyly 50% Scoliosis 50% Spinal canal stenosis 50% Wide mouth 50% Cognitive impairment 7.5% Macrocephaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Hypophosphatemic rickets ? | Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily, due to low levels of phosphate in the blood. Symptoms usually begin in early childhood and can range in severity. Severe forms may cause bowing of the legs and other bone deformities; bone pain; joint pain; poor bone growth; and short stature. In some affected babies, the space between the skull bones closes too soon (craniosynostosis). This sometimes results in developmental abnormalities. Hypophosphatemic rickets is almost always inherited and may be caused by changes (mutations) in any of several genes. Most commonly it is due to the PHEX gene and inherited in an X-linked dominant manner. Less commonly it is inherited in an X-linked recessive manner (often called Dent disease); autosomal dominant manner; or autosomal recessive manner. Treatment involves taking phosphate and calcitriol in order to raise phosphate levels in the blood and promote normal bone formation. | |
What are the symptoms of Hypophosphatemic rickets ? | What are the signs and symptoms of Hypophosphatemic rickets? The symptoms of hypophosphatemic rickets usually begin in infancy or early childhood. Specific symptoms and severity can vary greatly among affected children. The condition can be so mild that there are no noticeable symptoms, or so severe that it causes bowing of the legs and other bone deformities; bone pain; joint pain; and short stature. Other symptoms may include premature closure of the skull bones in babies (craniosynostosis); limited joint movement; and dental abnormalities. If left untreated, symptoms worsen over time. The Human Phenotype Ontology provides the following list of signs and symptoms for Hypophosphatemic rickets. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Abnormality of the metaphyses 90% Bone pain 90% Genu varum 90% Premature loss of teeth 90% Craniofacial hyperostosis 50% Enthesitis 50% Osteoarthritis 50% Short stature 50% Hearing impairment 7.5% Recurrent fractures 7.5% Abnormality of pelvic girdle bone morphology - Arthralgia - Bowing of the legs - Elevated alkaline phosphatase - Elevated circulating parathyroid hormone (PTH) level - Femoral bowing - Fibular bowing - Flattening of the talar dome - Frontal bossing - Hypomineralization of enamel - Hypophosphatemia - Hypophosphatemic rickets - Metaphyseal irregularity - Osteomalacia - Phenotypic variability - Renal phosphate wasting - Renal tubular dysfunction - Shortening of the talar neck - Spinal canal stenosis - Spinal cord compression - Tibial bowing - Trapezoidal distal femoral condyles - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Hypophosphatemic rickets ? | What causes hypophosphatemic rickets? Hypophosphatemic rickets is almost always hereditary and may be caused by mutations in any of several genes. The specific gene involved determines the way it is inherited. Most commonly, it is caused by a mutation in the PHEX gene. Other genes that can be responsible for the condition include the CLCN5, DMP1, ENPP1, FGF23, and SLC34A3 genes. The genes associated with hereditary hypophosphatemic rickets are involved in keeping a proper balance of phosphate in the body. Many of these genes directly or indirectly regulate a protein that normally inhibits the kidneys' ability to reabsorb phosphate into the blood. Mutations affecting the function of these genes increase the production (or reduce the breakdown) of the protein, causing the protein to be overactive. The overactivity of the protein reduces phosphate reabsorption by the kidneys, leading to the features of the condition. Rarer, sporadic, acquired cases are sometimes associated with benign (non-cancerous) mesenchymal tumors that decrease resorption of phosphate. | |
Is Hypophosphatemic rickets inherited ? | How is hypophosphatemic rickets inherited? Hypophosphatemic rickets is most often inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the condition. Because males have only one X chromosome (and one Y chromosome) and females have two X chromosomes, X-linked dominant conditions affect males and females differently. Both males and females can have an X-linked dominant condition. However, because males don't have a second, working copy of the gene (as females do), they usually have more severe disease than females. If a father has the mutated X-linked gene: all of his daughters will inherit the mutated gene (they will all receive his X chromosome) none of his sons will inherit the mutated gene (they only inherit his Y chromosome) If a mother has the mutated X-linked gene, each of her children (both male and female) has a 50% chance to inherit the mutated gene. Less commonly, hypophosphatemic rickets is inherited in an X-linked recessive, autosomal dominant, or autosomal recessive manner. | |
What are the symptoms of Rienhoff syndrome ? | What are the signs and symptoms of Rienhoff syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rienhoff 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Brachycephaly 5% Broad face 5% Bruising susceptibility 5% Cerebral hemorrhage 5% Cervical spine instability 5% Dolichocephaly 5% Hypoplasia of midface 5% Long face 5% Motor delay 5% Patent foramen ovale 5% Ptosis 5% Smooth philtrum 5% Spondylolisthesis 5% Talipes equinovarus 5% Ventricular septal defect 5% Arachnodactyly - Autosomal dominant inheritance - Bifid uvula - Bilateral coxa valga - Blue sclerae - Cleft palate - Decreased muscle mass - Exotropia - Hiatus hernia - High palate - Hypertelorism - Hyporeflexia - Increased arm span - Inguinal hernia - Joint hypermobility - Kyphoscoliosis - Mitral regurgitation - Pectus carinatum - Pectus excavatum - Pes planus - Proptosis - Retrognathia - Short stature - Small for gestational age - Tall stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Zlotogora syndrome ? | What are the signs and symptoms of Zlotogora syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zlotogora 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the philtrum - Anodontia - Anteverted ears - Autosomal recessive inheritance - Cleft palate - Cleft upper lip - Cutaneous finger syndactyly - Cutaneous syndactyly of toes - Hypodontia - Hypohidrosis - Microdontia - Nail dysplasia - Palmoplantar hyperkeratosis - Progressive hypotrichosis - Sparse eyebrow - Sparse eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Multifocal choroiditis ? | Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment. | |
What are the symptoms of Multifocal choroiditis ? | What are the signs and symptoms of multifocal choroiditis? Multifocal choroiditis (MFC) generally causes blurry vision with or without sensitivity to light. Other common symptoms include blind spots, floaters, eye discomfort and perceived flashes of light. Clinical examination by an ophthalmologist reveals inflammation in the front, middle and/or back layers of the eye with multiple scattered yellow/gray-white spots in the choroid and retina. A subset of people with this condition also develop choroidal neovascular membranes (CNVMs), new blood vessels that can cause more severe vision loss. | |
What causes Multifocal choroiditis ? | What causes multifocal choroiditis? Multifocal choroiditis occurs spontaneously and the cause is not currently known (idiopathic). It is possible that a bacterial or viral infection may trigger an immune response that causes the inflammation seen with MFC, though more research is needed in this area. | |
How to diagnose Multifocal choroiditis ? | How is multifocal choroiditis diagnosed? Multifocal choroiditis (MFC) is diagnosed by an ophthalmologist, using a series of imaging techniques. A test called flourescein angiography uses a special dye and camera to study blood flow in the back layers of the eye. When a person has MFC, lesions in the eye will appear as fluorescent spots. Vision tests may also show an enlarged blind spot or a decrease in visual clarity. Often, doctors may order blood tests to check if the symptoms are caused by a viral disease rather than MFC. | |
What are the treatments for Multifocal choroiditis ? | How might multifocal choroiditis be treated? Multifocal choroiditis (MFC) is generally treated with steroid medication that can be taken orally or injected into the affected eye. These treatments may be successful in managing symptoms, though there is no permanent cure for the disease and symptoms may return. If a person no longer responds to steroid treatment, drugs that suppress the immune system, such as cyclosporine, may be recommended. People with more severe vision loss may also benefit from laser therapy. Frequent monitoring by an ophthalmologist is recommended to determine how well treatment is working. | |
What is (are) Pantothenate kinase-associated neurodegeneration ? | Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, movement disorder characterized by a progressive degeneration of the nervous system (neurodegenerative disorder). PKAN is generally separated into classic and atypical forms. Children with classic PKAN develop symptoms in the first ten years of life. The atypical form of PKAN usually occurs after the age of ten and progresses more slowly. All individuals with PKAN have an abnormal buildup of iron in certain areas of the brain. A particular change, called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. PKAN is inherited in an autosomal recessive manner and is caused by changes (mutations) in the PANK2 gene. | |
What are the symptoms of Pantothenate kinase-associated neurodegeneration ? | What are the signs and symptoms of Pantothenate kinase-associated neurodegeneration? There are two forms of PKAN, classical and atypical. Symptoms of classic PKAN develop during early childhood, usually before age 10. The first symptom is often difficutly with movement and walking. Children are often first considered clumsy as their legs can be rigid, dystonic (an abnormality of muscle tone) and have involuntary muscle spasms (spasticity); these symptoms worsen over time. People can plateau for long periods of time and then undergo intervals of rapid deterioration, often lasting one to two months. Children usually lose the ability to walk by 10-15 years after the beginning of symptoms. Many individuals also experience limited speech and may have enough trouble with chewing and swallowing that a feeding tube becomes necessary. Two-thirds of children with classical PKAN develop peripheral (side) vision loss and night blindness due to retinal degeneration. Cognitive functioning varies from person to person and can range from high average to below average. Premature death does occur; however, live span is variable. With improvements in medical care, a greater number of affected individuals are living into adulthood. All individuals with PKAN have an abnormal buildup of iron in certain areas of the brain. A particular change, called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. Features of the atypical form usually progress more slowly and appear within the first three decades of life. Signs and symptoms vary, but the progression in the atypical form is usually slower. Symptoms are usually marked by speech difficulty such repetition of words or phrases (palilalia), rapid speech (tachylalia), and poor articulation/slurring (dysarthria). Psychiatric symptoms such as behavioral problems, personality changes, and depression are more commonly observed. While movement problems are a common feature, it usually develops later. Loss of independent walking often occurs 15-40 years after the initial development of symptoms. Retinal degeneration is rare in the atypical form. The Human Phenotype Ontology provides the following list of signs and symptoms for Pantothenate kinase-associated neurodegeneration. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Gait disturbance 90% Neurological speech impairment 90% Abnormality of the cranial nerves 50% Abnormality of the foot 50% Chorea 50% Constipation 50% Feeding difficulties in infancy 50% Hyperreflexia 50% Hypertonia 50% Recurrent respiratory infections 50% Tremor 50% Weight loss 50% Abnormal joint morphology 7.5% Developmental regression 7.5% Seizures 7.5% Visual impairment 7.5% Abnormal pyramidal signs - Acanthocytosis - Akinesia - Ataxia - Autosomal recessive inheritance - Behavioral abnormality - Blepharospasm - Bradykinesia - Cerebral degeneration - Choreoathetosis - Decreased muscle mass - Dementia - Depression - Dysarthria - Dysphagia - Dysphonia - Eye of the tiger anomaly of globus pallidus - Eyelid apraxia - Facial grimacing - Global brain atrophy - Hyperactivity - Hyperpigmentation of the skin - Motor tics - Myopathy - Neurodegeneration - Obsessive-compulsive trait - Optic atrophy - Orofacial dyskinesia - Parkinsonism - Pigmentary retinopathy - Rapidly progressive - Retinal degeneration - Rigidity - Spasticity - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the treatments for Pantothenate kinase-associated neurodegeneration ? | How might pantothenate kinase-associated neurodegeneration (PKAN) be treated? Currently there is no cure for this condition. Treatment consists of medications and surgery to relieve symptoms. For many of the treatments that do improve symptoms, the period of benefit is limited. Baclofen and trihexyphenidyl remain the most effective drugs for the dystonia and spasticity associated with this condition. Botulinum toxin may be helpful for many affected individuals, especially in treating a limited body region. For example, injections in the facial muscles can greatly improve speech and eating abilities. Those with PKAN typically do not benefit from L-dopa. Deep brain stimulation (DBS) is also an option for relieving some symptoms; an international study of the effectiveness of DBS is currently underway. Recently, interest in chelating agents (agents that remove iron from the body) has also been revived, although the benefits have not yet been documented and systemic anemia remains a risk. A trial using deferriprone (a chelator) in PKAN is currently underway in Italy. Click on the link to learn more about this study. | |
What are the symptoms of Syngnathia multiple anomalies ? | What are the signs and symptoms of Syngnathia multiple anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Syngnathia multiple anomalies. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the teeth 90% Aplasia/Hypoplasia affecting the eye 90% Choanal atresia 90% Cognitive impairment 90% Facial palsy 90% Iris coloboma 90% Microcephaly 90% Narrow mouth 90% Nystagmus 90% Respiratory insufficiency 90% Sacrococcygeal pilonidal abnormality 90% Short stature 90% Trismus 90% Vertebral segmentation defect 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Hemophilia ? | Hemophilia is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor trauma or in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. The major types of this disorder are hemophilia A and hemophilia B. Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood, but have few bleeding problems after puberty. Another form of the disorder, acquired hemophilia, is not caused by inherited gene mutations. | |
What are the symptoms of Bare lymphocyte syndrome 2 ? | What are the signs and symptoms of Bare lymphocyte syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bare lymphocyte syndrome 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 Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agammaglobulinemia - Autosomal dominant inheritance - Autosomal recessive inheritance - Biliary tract abnormality - Chronic lymphocytic meningitis - Chronic mucocutaneous candidiasis - Colitis - Cutaneous anergy - Encephalitis - Failure to thrive - Malabsorption - Neutropenia - Panhypogammaglobulinemia - Protracted diarrhea - Recurrent bacterial infections - Recurrent fungal infections - Recurrent lower respiratory tract infections - Recurrent protozoan infections - Recurrent upper respiratory tract infections - Recurrent urinary tract infections - Recurrent viral infections - Villous atrophy - Viral hepatitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Charcot-Marie-Tooth disease type 1B ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease 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 Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Kyphoscoliosis 33% Peripheral demyelination 33% Areflexia - Autosomal dominant inheritance - Cold-induced muscle cramps - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Heterogeneous - Hypertrophic nerve changes - Hyporeflexia - Insidious onset - Juvenile onset - Myelin outfoldings - Onion bulb formation - Pes cavus - Slow progression - Steppage gait - Tonic pupil - Ulnar claw - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Satoyoshi syndrome ? | Satoyoshi syndrome is a rare condition characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, amenorrhea, alopecia universalis, short stature, and skeletal abnormalities. Progressive painful intermittent muscle spasms usually start between 6 to 15 years of age. Alopecia universalis also appears around age 10. About half of affected individuals experience malabsorption, specifically of carbohydrates. The skeletal abnormalities may be secondary to muscle spasms. The main endocrine disorder is primary amenorrhea. All cases have apparently been sporadic, even when occurring in large families. The exact cause is unknown; but some researchers have speculated that Satoyoshi syndrome is an autoimmune disorder. | |
What are the symptoms of Satoyoshi syndrome ? | What are the signs and symptoms of Satoyoshi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Satoyoshi 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the eyelashes 90% Abnormality of the femur 90% Abnormality of the hip bone 90% Abnormality of the humerus 90% Abnormality of the metaphyses 90% Abnormality of the wrist 90% Genu varum 90% Hyperlordosis 90% Limb undergrowth 90% Microcephaly 90% Polycystic ovaries 90% Secondary amenorrhea 90% Short stature 90% Tapered finger 90% Brachydactyly syndrome 5% Short metacarpal 5% Short metatarsal 5% Alopecia universalis - Amenorrhea - Diarrhea - Genu valgum - Hypoplasia of the uterus - Malabsorption - Mildly elevated creatine phosphokinase - Osteolytic defects of the phalanges of the hand - Pes planus - Skeletal muscle hypertrophy - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Gilbert syndrome ? | Gilbert syndrome is a common, mild liver disorder in which the liver doesn't properly process bilirubin, a substance produced by the breakdown of red blood cells. Gilbert syndrome typically doesn't require treatment or pose serious complications. In fact, Gilbert syndrome is usually not considered a disease because of its benign nature. Many individuals find out they have the disorder by accident, when they have a blood test that shows elevated bilirubin levels. More males than females have been diagnosed with Gilbert syndrome. This condition is caused by mutations in the UGT1A1 gene and is inherited in an autosomal recessive pattern. | |
What are the symptoms of Gilbert syndrome ? | What are the signs and symptoms of Gilbert syndrome? While many people with Gilbert syndrome never experience any symptoms, mild jaundice may occur if bilirubin levels get high enough. Other possible symptoms may include fatigue, weakness and abdominal pain. Patients may have more side effects from certain drugs such as irinotecan. The Human Phenotype Ontology provides the following list of signs and symptoms for Gilbert 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the liver 90% Abdominal pain 50% Nausea and vomiting 50% Reduced bone mineral density 7.5% Autosomal recessive inheritance - Jaundice - Unconjugated hyperbilirubinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
Is Gilbert syndrome inherited ? | How is Gilbert syndrome inherited? Gilbert syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | |
How to diagnose Gilbert syndrome ? | Is genetic testing available for Gilbert syndrome? The Genetic Testing Registry provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference at http://ghr.nlm.nih.gov/handbook/consult. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral. The following online resources can help you find a genetics professional in your community: The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services. The American College of Medical Genetics has a searchable database of US genetics clinics. The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments. The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care. | |
What are the treatments for Gilbert syndrome ? | How might Gilbert syndrome be treated? Gilbert syndrome generally doesn't require treatment. The bilirubin levels in the blood may fluctuate over time, causing episodes of jaundice. However, the jaundice is usually mild and goes away on its own. In some cases, doctors may prescribe phenobarbital to lower extremely elevated bilirubin levels and reduce signs of jaundice. Phenobarbital administration usually alleviates signs of jaundice fairly quickly. | |
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 use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Decreased motor nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Peripheral axonal neuropathy - Pes cavus - Skeletal muscle atrophy - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Townes-Brocks syndrome ? | Townes-Brocks syndrome is a genetic condition characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. Most affected individuals have at least two of these three main features. The condition is caused by mutations in the SALL1 gene which provides instructions for making proteins that are involved in the formation of tissues and organs before birth. It follows an autosomal dominant pattern of inheritance. | |
What are the symptoms of Townes-Brocks syndrome ? | What are the signs and symptoms of Townes-Brocks syndrome? Townes-Brocks syndrome is characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. Most people with this condition have at least two of these three major features. Other possible signs and symptoms include kidney abnormalities, mild to profound sensorineural and/or conductive hearing loss, heart defects, and genital malformations. These features vary among affected individuals - even among those within the same family. Intellectual disability or learning problems have also been reported in about 10 percent of people with Townes-Brocks syndrome. Visit GeneReviews for more detailed information about the signs and symptoms of Townes-Brocks syndrome. The Human Phenotype Ontology provides the following list of signs and symptoms for Townes-Brocks 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) External ear malformation 90% Preauricular skin tag 90% Preaxial hand polydactyly 90% Triphalangeal thumb 90% Urogenital fistula 90% Camptodactyly of toe 50% Clinodactyly of the 5th finger 50% Clinodactyly of the 5th toe 50% Constipation 50% Cryptorchidism 50% Ectopic anus 50% Hearing impairment 50% Microtia 50% Pes planus 50% Preauricular pit 50% Renal insufficiency 50% Sensorineural hearing impairment 50% Anal atresia 47% 2-4 finger syndactyly 7.5% Abnormal localization of kidney 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the ribs 7.5% Abnormality of the tragus 7.5% Abnormality of the vagina 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Arnold-Chiari malformation 7.5% Atria septal defect 7.5% Bifid scrotum 7.5% Blepharophimosis 7.5% Bowel incontinence 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Cognitive impairment 7.5% Cranial nerve paralysis 7.5% Displacement of the external urethral meatus 7.5% Epibulbar dermoid 7.5% Facial asymmetry 7.5% Hypoplasia of penis 7.5% Hypothyroidism 7.5% Iris coloboma 7.5% Lower limb asymmetry 7.5% Multicystic kidney dysplasia 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Renal dysplasia 7.5% Renal hypoplasia 7.5% Short stature 7.5% Split foot 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Toe syndactyly 7.5% Ulnar deviation of finger 7.5% Vesicoureteral reflux 7.5% Visual impairment 7.5% Wide mouth 7.5% Duane anomaly 5% 2-3 toe syndactyly - 3-4 finger syndactyly - 3-4 toe syndactyly - Anal stenosis - Aplasia/Hypoplasia of the 3rd toe - Autosomal dominant inheritance - Bifid uterus - Broad thumb - Duodenal atresia - Gastroesophageal reflux - Hypospadias - Intellectual disability - Macrotia - Metatarsal synostosis - Microcephaly - Overfolding of the superior helices - Partial duplication of thumb phalanx - Pseudoepiphyses of second metacarpal - Rectoperineal fistula - Rectovaginal fistula - Short metatarsal - Stahl ear - Umbilical hernia - Urethral valve - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Townes-Brocks syndrome ? | What causes Townes-Brocks syndrome? Townes-Brocks syndrome is caused by mutations in the SALL1 gene. This gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. SALL proteins act as transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes. Some mutations in the SALL1 gene lead to the production of an abnormally short version of the SALL1 protein that malfunctions within the cell. Other mutations prevent one copy of the gene in each cell from making any protein. It is unclear how these genetic changes disrupt normal development and cause the symptoms associated with Townes-Brocks syndrome. | |
Is Townes-Brocks syndrome inherited ? | Is Townes-Brocks syndrome genetic? Yes. Townes-Brocks syndrome is inherited in an autosomal dominant fashion, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In about 50% of cases, an affected person inherits the mutation from an affected parent. The other 50% have the condition as a result of a new (de novo) mutation. | |
How to diagnose Townes-Brocks syndrome ? | How is Townes-Brocks syndrome diagnosed? Townes-Brocks syndrome is diagnosed clinically based on the presence of the following: Imperforate anus Abnormally shaped ears Typical thumb malformations (preaxial polydactyly, triphalangeal thumbs which have three bones in them, much like the fingers, instead of the normal two, hypoplastic or underdeveloped thumbs) without shortening of the radius (the larger of the two bones in the forearm) SALL1 is the only gene known to be associated with Townes-Brocks syndrome. Detection of a SALL1 mutation confirms the diagnosis. Genetic testing is available on a clinical basis. | |
What are the treatments for Townes-Brocks syndrome ? | Is there treatment for Townes-Brocks syndrome? Treatment is directed towards the specific symptoms, including immediate surgical intervention for imperforate anus; surgery for severe malformations of the hands; routine management of congenital heart defects; hemodialysis and possibly kidney transplantation for end-stage renal disease (ESRD); and early treatment of hearing loss. In addition, regular monitoring of renal function in individuals with and without renal anomalies is suggested. | |
What are the symptoms of Hyperglycerolemia ? | What are the signs and symptoms of Hyperglycerolemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperglycerolemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Cognitive impairment 90% EMG abnormality 90% Muscular hypotonia 90% Myopathy 90% Neurological speech impairment 90% Primary adrenal insufficiency 90% Short stature 90% Cryptorchidism 50% EEG abnormality 50% Hyperlordosis 50% Reduced bone mineral density 50% Scoliosis 50% Seizures 50% Abnormal facial shape 7.5% Adrenal insufficiency - Adrenocortical hypoplasia - Coma - Downturned corners of mouth - Episodic vomiting - Frontal bossing - Hypertelorism - Hypertriglyceridemia - Hypoglycemia - Intellectual disability - Ketoacidosis - Lethargy - Low-set ears - Metabolic acidosis - Muscular dystrophy - Osteoporosis - Pathologic fracture - Small for gestational age - Strabismus - X-linked dominant inheritance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Acrocallosal syndrome, Schinzel type ? | What are the signs and symptoms of Acrocallosal syndrome, Schinzel type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocallosal syndrome, Schinzel type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 100% Cognitive impairment 90% Duplication of phalanx of hallux 90% Duplication of thumb phalanx 90% Hypertelorism 90% Macrocephaly 90% Postaxial foot polydactyly 90% Postaxial hand polydactyly 90% Preaxial foot polydactyly 90% Preaxial hand polydactyly 90% Failure to thrive 75% Growth delay 75% Broad forehead 50% Dandy-Walker malformation 50% Epicanthus 50% Preauricular skin tag 50% Prominent occiput 50% Short nose 50% Sloping forehead 50% Triphalangeal thumb 50% Wide anterior fontanel 50% Finger syndactyly 33% Inguinal hernia 33% Toe syndactyly 33% Umbilical hernia 33% High palate 31% Short philtrum 31% Cleft palate 21% Cleft upper lip 21% Open mouth 16% Microretrognathia 14% Long philtrum 9% Thin vermilion border 9% Abnormality of the clavicle 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Hearing impairment 7.5% Hernia of the abdominal wall 7.5% Micropenis 7.5% Nystagmus 7.5% Posteriorly rotated ears 7.5% Sensorineural hearing impairment 7.5% Strabismus 7.5% Tall stature 7.5% Tapered finger 7.5% Coloboma 5% Optic atrophy 5% Hypoplasia of teeth 2% Smooth philtrum 2% Macrocephaly 25/27 Hypertelorism 24/26 Wide nasal bridge 24/26 Intellectual disability 23/25 Frontal bossing 23/26 Generalized hypotonia 20/23 Abnormality of the pinna 19/23 Hypospadias 10/18 Intracranial cystic lesion 10/27 Seizures 9/27 Abnormality of cardiovascular system morphology 5/22 Abnormality of the cardiac septa - Agenesis of corpus callosum - Anal atresia - Autosomal dominant inheritance - Autosomal recessive inheritance - Bifid distal phalanx of the thumb - Brachydactyly syndrome - Clinodactyly of the 5th finger - Heterogeneous - Hypopigmentation of the fundus - Intellectual disability, severe - Phenotypic variability - Postnatal growth retardation - Prominent forehead - Pulmonary valve defects - Rectovaginal fistula - Triangular mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Erdheim-Chester disease ? | Erdheim-Chester disease is a rare condition that can affect many different organs of the body. This condition, which usually affects adults, is characterized by excessive production and accumulation of histiocytes (specific cells that normally play a role in responding to infection and injury) within multiple tissues and organs. As a result, these tissues and organs become thickened, dense and fibrotic. Sites of involvement may include the long bones, skin, tissues behind the eyeballs, lungs, brain, and pituitary gland, among others. Signs and symptoms, as well as disease course, depend on the specific location and extent of involvement. Without successful treatment, organ failure can occur. | |
What are the symptoms of Erdheim-Chester disease ? | What are the signs and symptoms of Erdheim-Chester disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Erdheim-Chester 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 up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of temperature regulation 90% Abnormality of the genital system 90% Abnormality of the metaphyses 90% Bone pain 90% Diabetes insipidus 90% Hyperhidrosis 90% Increased bone mineral density 90% Multiple lipomas 90% Osteolysis 90% Osteomyelitis 90% Proptosis 90% Weight loss 90% Abdominal pain 50% Abnormality of the aortic valve 50% Joint swelling 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Anemia 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aseptic necrosis 7.5% Congestive heart failure 7.5% Hyperreflexia 7.5% Incoordination 7.5% Nausea and vomiting 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Ptosis 7.5% Pulmonary fibrosis 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Skin rash 7.5% Visual impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Erdheim-Chester disease ? | What causes Erdheim-Chester disease? The specific underlying cause of Erdheim-Chester disease is not known. It is not currently categorized as a cancer, infection or autoimmune disease. It it not believed to be contagious or genetic in nature. | |
What is (are) Malakoplakia ? | Malakoplakia is a rare chronic inflammatory disease. It commonly involves the urinary tract, but may also involve the prostate, ureter, pelvis, bones, lungs, testes, gastrointestinal tract, skin, and kidney. Malakoplakia of the kidney is often associated with chronic kidney infection and obstruction. E. coli is the most common organism found in urine samples. Common symptoms of malakoplakia of the kidney include flank pain and signs of active kidney infection. It may affect one or both kidneys and can cause symptoms similar to that of kidney failure.Careful studies of the involved tissues can help to distinguish malakoplakia of the kidney from similar conditions, namely xanthogranulomatous pyelonephritis and megalocytic interstitial nephritis. | |
What is (are) Familial amyloidosis, Finnish type ? | Familial amyloidosis, Finnish type, or gelsolin amyloidosis, is a condition characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin. The 3 main features are amyloid deposits in the cornea (corneal lattice dystrophy), bilateral facial paralysis, and cutis laxa ("sagging" skin). Symptoms generally worsen with age. This condition is inherited in an autosomal dominant manner and is caused by mutations in the GSN gene. Treatment generally focuses on specific signs and symptoms. Plastic surgery may relieve problems caused by facial paralysis and cutis laxa. | |
What are the symptoms of Familial amyloidosis, Finnish type ? | What are the signs and symptoms of Familial amyloidosis, Finnish type? Symptoms of this condition usually begin in an individual's 20s or 30s, and they usually emerge in a specific order. The progression is often slow, but varies among individuals. The typical triad of features includes accumulation of amyloid deposits in the cornea (lattice corneal dystrophy), cutis laxa (sagging skin), and nervous system symptoms (neuropathy). Eye symptoms typically begin first. The amyloid deposits cloud the cornea, often leading to vision impairment. Other eye symptoms may include dryness, irritation and light sensitivity. Affected individuals may eventually develop cataracts and glaucoma. As the condition progresses, the nerves become involved (typically in an individual's 40s). Dysfunction of the nerves in the head and face (cranial nerves) causes paralysis of facial muscles and decreased sensation, which can lead to difficulty speaking, chewing, and swallowing. Facial paralysis can also cause additional eye symptoms including ectropium (turning out of the eyelid), corneal ulcers, or droopy eyelids (ptosis). Affected individuals may also have peripheral neuropathy. Central nervous system symptoms such as impaired cognitive function are rare but have been reported in older individuals. Skin manifestations may also begin in a person's 40s and include a thickened, sagging appearance and cutis laxa (loose skin that lacks elasticity), especially on the face. Cutis laxa worsens with age. Other signs and symptoms that have been reported in some people include gastric motility changes, orodental problems, heart palpitations, cardiac conduction problems, and mild proteinuria. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial amyloidosis, Finnish type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the abdomen - Adult onset - Autosomal dominant inheritance - Bulbar palsy - Cardiomyopathy - Cutis laxa - Generalized amyloid deposition - Lattice corneal dystrophy - Nephrotic syndrome - Polyneuropathy - Renal insufficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Exstrophy of the bladder ? | What are the signs and symptoms of Exstrophy of the bladder? The Human Phenotype Ontology provides the following list of signs and symptoms for Exstrophy of the bladder. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of female external genitalia 90% Displacement of the external urethral meatus 90% Exstrophy 90% Hypoplasia of penis 90% Umbilical hernia 90% Vesicoureteral reflux 90% Recurrent urinary tract infections 50% Bowel incontinence 7.5% Intestinal malrotation 7.5% Omphalocele 7.5% Abnormality of pelvic girdle bone morphology - Anteriorly placed anus - Autosomal dominant inheritance - Bladder exstrophy - Epispadias - Horseshoe kidney - Hydroureter - Inguinal hernia - Unilateral renal agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Antisynthetase syndrome ? | Antisynthetase syndrome is a chronic autoimmune condition that affects the muscles and various other parts of the body. The signs and symptoms can vary but may include muscle inflammation (myositis), polyarthritis (inflammation of many joints), interstitial lung disease and Raynaud phenomenon. The exact underlying cause is unknown; however, the production of autoantibodies (antibodies that attack normal cells instead of disease-causing agents) that recognize and attack certain enzymes in the body called 'aminoacyl-tRNA synthetases' appears to be linked to the cause of the syndrome. Treatment is based on the signs and symptoms present in each person but may include corticosteroids, immunosuppressive medications, and/or physical therapy. | |
What are the symptoms of Antisynthetase syndrome ? | What are the signs and symptoms of Antisynthetase syndrome? The signs and symptoms of antisynthetase syndrome vary but may include: Fever Loss of appetite Weight loss Muscle inflammation (myositis) Inflammation of multiple joints (polyarthritis) Interstitial lung disease (causing shortness of breath, coughing, and/or dysphagia) Mechanic's hands (thickened skin of tips and margins of the fingers) Raynaud phenomenon Some studies suggest that affected people may be at an increased risk for various types of cancer, as well. The Human Phenotype Ontology provides the following list of signs and symptoms for Antisynthetase 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autoimmunity 90% Chest pain 90% Muscle weakness 90% Myalgia 90% Myositis 90% Pulmonary fibrosis 90% Respiratory insufficiency 90% Restrictive lung disease 90% Abnormality of temperature regulation 50% Acrocyanosis 50% Dry skin 50% Edema 50% EMG abnormality 50% Keratoconjunctivitis sicca 50% Lack of skin elasticity 50% Muscular hypotonia 50% Xerostomia 50% Abnormality of the aortic valve 7.5% Abnormality of the myocardium 7.5% Abnormality of the voice 7.5% Chondrocalcinosis 7.5% Feeding difficulties in infancy 7.5% Joint dislocation 7.5% Neoplasm 7.5% Pruritus 7.5% Pulmonary hypertension 7.5% Recurrent respiratory infections 7.5% Skin rash 7.5% Telangiectasia of the skin 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Antisynthetase syndrome ? | What causes antisynthetase syndrome? The exact underlying cause of antisynthetase syndrome is currently unknown. However, it is considered an autoimmune disease. Autoimmune disorders occur when the body's immune system attacks and destroys healthy body tissue by mistake. In antisynthetase syndrome, specifically, the production of autoantibodies (antibodies that attack normal cells instead of disease-causing agents) that recognize and attack certain enzymes in the body called 'aminoacyl-tRNA synthetases' appears to be linked to the cause of the syndrome. Aminoacyl-tRNA synthetases are involved in protein synthesis within the body. The exact role of autoantibodies in causation of antisynthetase syndrome is not yet known. | |
How to diagnose Antisynthetase syndrome ? | How is antisynthetase syndrome diagnosed? A diagnosis of antisynthetase syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to confirm the diagnosis, determine the severity of the condition, and inform treatment. This testing varies based on the signs and symptoms present in each person, but may include: Blood tests to evaluate levels of muscle enzymes such as creatine kinase and aldolase Laboratory tests to look for the presence of autoantibodies associated with antisynthetase syndrome High resolution computed tomography (HRCT) of the lungs Electromyography (EMG) Muscle biopsy Pulmonary function testing Magnetic resonance imaging (MRI) of affected muscles Evaluation of swallowing difficulties and aspiration risk Lung biopsy | |
What are the treatments for Antisynthetase syndrome ? | What treatment is available for antisynthetase syndrome? Corticosteroids are typically the first-line of treatment and may be required for several months or years. These medications are often given orally; however, in severe cases, intravenous methylprednisolone may be prescribe initially. Immunosuppressive medications may also be recommended, especially in people with severe muscle weakness or symptomatic interstitial lung disease. Physical therapy is often necessary to improve weakness, reduce further muscle wasting from disuse, and prevent muscle contractures. | |
What is (are) Pelizaeus-Merzbacher disease ? | Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of leukodystrophy and is characterized by problems with coordination, motor skills, and learning. The age of onset and the severity of the symptoms varies greatly depending on the type of disease. It is caused by an inability to form myelin due to mutations in the PLP1 gene. It is passed through families in an X-linked recessive pattern. The condition primarily affects males. Treatment requires a multidisciplinary team approach, with members dictated by the presenting symptoms. | |
What are the symptoms of Pelizaeus-Merzbacher disease ? | What are the signs and symptoms of Pelizaeus-Merzbacher disease? Pelizaeus-Merzbacher disease is divided into classic and severe (connatal) types. Although these two types differ in severity, their symptoms can overlap. Classic Pelizaeus-Merzbacher disease is the more common type. Within the first year of life, those affected with classic Pelizaeus-Merzbacher disease typically experience weak muscle tone (hypotonia), involuntary movements of the eyes (nystagmus), and delayed development of motor skills such as crawling or walking. As the child gets older, nystagmus may improve, but other movement disorders develop, including muscle stiffness (spasticity), problems with movement and balance (ataxia), and involuntary jerking (choreiform movements). Cognitive abilities may be impaired, but speech and language are usually present. Severe or connatal Pelizaeus-Merzbacher disease is the more severe of the two types. Symptoms are usually present at birth or develop in the first few weeks of life. Features include nystagmus, problems feeding, a whistling sound when breathing, progressive spasticity leading to joint deformities (contractures) that restrict movement, speech difficulties (dysarthria), ataxia, and seizures. Children often have short stature and poor weight gain. Those affected with connatal Pelizaeus-Merzbacher disease don't walk or develop effective use of their upper limbs. Verbal expression is usually severely affected, but comprehension may be significant. The Human Phenotype Ontology provides the following list of signs and symptoms for Pelizaeus-Merzbacher 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 up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nystagmus 100% Psychomotor deterioration 100% Abnormal pyramidal signs 90% Ataxia 90% Behavioral abnormality 90% Cerebral cortical atrophy 90% Decreased body weight 90% Developmental regression 90% Dystonia 90% Gait disturbance 90% Hypertonia 90% Incoordination 90% Kyphosis 90% Limitation of joint mobility 90% Muscular hypotonia 90% Optic atrophy 90% Premature birth 90% Progressive spastic quadriplegia 90% Scoliosis 90% Slow progression 90% Visual impairment 90% Choreoathetosis 75% Dysarthria 75% Dysphagia 75% Reduction of oligodendroglia 75% Sudanophilic leukodystrophy 75% Abnormality of the urinary system 50% Abnormality of visual evoked potentials 50% Arteriovenous malformation 50% Bowel incontinence 50% Chorea 50% Cognitive impairment 50% Delayed speech and language development 50% Failure to thrive 50% Head titubation 50% Hearing impairment 50% Microcephaly 50% Neurological speech impairment 50% Recurrent respiratory infections 50% Respiratory insufficiency 50% Seizures 50% Short stature 50% Congenital laryngeal stridor 7.5% Peripheral neuropathy 7.5% Hyporeflexia 4/7 Cerebral dysmyelination - Infantile onset - Intellectual disability - Rotary nystagmus - Scanning speech - Tremor - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Pelizaeus-Merzbacher disease ? | What causes Pelizaeus-Merzbacher disease? Pelizaeus-Merzbacher disease is caused by mutations in the PLP1 gene. This gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of proteolipid protein 1, called DM20. Proteolipid protein 1 and DM20 are primarily located in the central nervous system and are the main proteins found in myelin, the fatty covering that insulates nerve fibers. A lack of proteolipid protein 1 and DM20 can cause dysmyelination, which can impair nervous system function, resulting in the signs and symptoms of Pelizaeus-Merzbacher disease. It is estimated that 5 percent to 20 percent of people with Pelizaeus-Merzbacher disease do not have identified mutations in the PLP1 gene. In these cases, the cause of the condition is unknown. | |
Is Pelizaeus-Merzbacher disease inherited ? | How is Pelizaeus-Merzbacher disease inherited? | |
What are the treatments for Pelizaeus-Merzbacher disease ? | How might Pelizaeus-Merzbacher disease be treated? | |
What is (are) Hereditary fructose intolerance ? | Hereditary fructose intolerance (HFI) is a metabolic disease caused by the absence of an enzyme called aldolase B. In people with HFI, ingestion of fructose (fruit sugar) and sucrose (cane or beet sugar, table sugar) causes severe hypoglycemia (low blood sugar) and the build up of dangerous substances in the liver. HFI may be relatively mild or a very severe disease. The condition is caused by mutations in the ALDOB gene. It is inherited in an autosomal recessive pattern. Treatment involves eliminating fructose and sucrose from the diet. In the severe form, eliminating these sugars from the diet may not prevent progressive liver disease. | |
What are the symptoms of Hereditary fructose intolerance ? | What are the signs and symptoms of Hereditary fructose intolerance? The symptoms of HFI include: Poor feeding as a baby Irritability Increased or prolonged neonatal jaundice Vomiting Convulsions Excessive sleepiness Intolerance for fruits Avoidance of fruits and fructose/sucrose-containing foods Doing well after eating foods without fructose/sucrose The early symptoms of fructose intolerance may resemble those of galactosemia: irritability, jaundice, vomiting, convulsions and an enlarged liver and spleen. Later problems relate more to liver disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary fructose intolerance. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain - Autosomal recessive inheritance - Bicarbonaturia - Cirrhosis - Coma - Elevated hepatic transaminases - Failure to thrive - Fructose intolerance - Gastrointestinal hemorrhage - Glycosuria - Hepatic steatosis - Hepatomegaly - Hyperbilirubinemia - Hyperphosphaturia - Hyperuricemia - Hyperuricosuria - Hypoglycemia - Hypophosphatemia - Intellectual disability - Jaundice - Lactic acidosis - Lethargy - Malnutrition - Metabolic acidosis - Nausea - Proximal renal tubular acidosis - Proximal tubulopathy - Seizures - Transient aminoaciduria - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Hereditary fructose intolerance ? | What causes hereditary fructose intolerance (HFI)? HFI is caused by alterations (mutations) in the ALDOB gene. This gene provides instructions for making an enzyme called aldolase B. This enzyme is primarily found in the liver and is involved in the breakdown of fructose into energy. Mutations in the ALDOB gene reduce the function of the enzyme, impairing its ability to metabolize fructose. This causes a toxic buildup of fructose-1-phosphate in liver cells, which results in the death of liver cells over time. | |
Is Hereditary fructose intolerance inherited ? | How is hereditary fructose intolerance (HFI) inherited? HFI is inherited in an autosomal recessive manner, which means alterations (mutations) are present in both copies of the ALDOB gene. The parents of an individual with HFI each carry one copy of the mutated gene, but they typicaly do not show signs and symptoms of the condition. | |
What are the treatments for Hereditary fructose intolerance ? | How is hereditary fructose intolerance (HFI) treated? Complete elimination of fructose and sucrose from the diet is an effective treatment for most people, although this can be challenging. More information on treatment for HFI is available from the HFI Laboratory at Boston University at the following link. This page includes information on what people with HFI can and cannot eat. http://www.bu.edu/aldolase/HFI/treatment/ Additional information on foods to avoid if you have HFI is available from the Mayo clinic. http://www.mayoclinic.com/health/fructose-intolerance/AN01574 | |
What are the symptoms of Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch ? | What are the signs and symptoms of Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch? The Human Phenotype Ontology provides the following list of signs and symptoms for Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent scaphoid - Absent trapezium - Absent trapezoid bone - Anonychia - Aplasia/Hypoplasia of the middle phalanges of the hand - Autosomal dominant inheritance - Cone-shaped epiphyses of the middle phalanges of the hand - Distal symphalangism (feet) - Distal symphalangism (hands) - Microdontia - Pulp stones - Short distal phalanx of finger - Short middle phalanx of finger - Short phalanx of finger - Small nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Cockayne syndrome type III ? | Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities. Cockayne syndrome type 1 (type A) is sometimes called classic or "moderate" Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the severe or "early-onset" type. This more severe form presents with growth and developmental abnormalities at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood. | |
What are the symptoms of Cockayne syndrome type III ? | What are the signs and symptoms of Cockayne syndrome type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome type III. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal auditory evoked potentials - Abnormal CNS myelination - Abnormal peripheral myelination - Abnormality of skin pigmentation - Abnormality of the pinna - Abnormality of visual evoked potentials - Atherosclerosis - Atypical scarring of skin - Autosomal recessive inheritance - Cerebral calcification - Cutaneous photosensitivity - Dementia - Dermal atrophy - Flexion contracture - Gait disturbance - Glomerulosclerosis - Hearing impairment - Hypertension - Intellectual disability - Large hands - Long foot - Mandibular prognathia - Microcephaly - Normal pressure hydrocephalus - Optic atrophy - Prematurely aged appearance - Proteinuria - Retinal degeneration - Retinal pigment epithelial mottling - Severe short stature - Thymic hormone decreased - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Landau-Kleffner syndrome ? | Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). The disorder usually occurs in children between age 2 and 8. Typically, children with LKS develop normally but then lose their language skills for no apparent reason. While many of the affected individuals have seizures, some do not. The disorder is difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit disorder, intellectual disability, childhood schizophrenia, or emotional/behavioral problems. Treatment for LKS usually consists of medications, such as anticonvulsants and corticosteroids, and speech therapy, which should be started promptly. The prognosis varies. Some children may have a permanent language disorder, while others may regain much of their language abilities (although it may take months or years). | |
What are the symptoms of Landau-Kleffner syndrome ? | What are the signs and symptoms of Landau-Kleffner syndrome? Landau-Kleffner syndrome is characterized by the sudden or gradual development of aphasia (the inability to understand or express language) in previously normal children along with an abnormal electro-encephalogram (EEG). It most frequently occurs in children between the ages of 2 and 8. The condition affects the part of the brain that controls comprehension and speech. Some children with Landau-Kleffner syndrome develop behavioral problems, including hyperactivity, attention deficits, temper outbursts, impulsivity, and/or withdrawn behaviors. Seizures occur in up to 2/3 of affected children. These complex partial, generalized clonic and atypical absence seizures are generally easy to control and often resolve spontaneously before adolescence. The Human Phenotype Ontology provides the following list of signs and symptoms for Landau-Kleffner 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 5% Agnosia - Aphasia - Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Delayed speech and language development - Dysphasia - EEG with centrotemporal focal spike waves - Incomplete penetrance - Seizures - Speech apraxia - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
How to diagnose Landau-Kleffner syndrome ? | How is Landau-Kleffner syndrome (LKS) diagnosed? LKS is diagnosed based on clinical features and the results of an electroencephalogram (EEG), a recording of the electric activity of the brain. All LKS children have abnormal electrical brain activity on both the right and left sides of their brains. | |
What are the symptoms of Brachydactyly type A2 ? | What are the signs and symptoms of Brachydactyly type A2? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A2. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Brachydactyly syndrome 90% Clinodactyly of the 5th finger 50% Abnormality of the metacarpal bones 7.5% Short distal phalanx of finger 7.5% 2-3 toe syndactyly - Aplasia/Hypoplasia of the middle phalanges of the toes - Aplasia/Hypoplasia of the middle phalanx of the 2nd finger - Aplasia/Hypoplasia of the middle phalanx of the 5th finger - Autosomal dominant inheritance - Bracket epiphysis of the middle phalanx of the 2nd finger - Bracket epiphysis of the middle phalanx of the 5th finger - Broad hallux - Hallux valgus - Medially deviated second toe - Radial deviation of the 2nd finger - Short 2nd finger - Short hallux - Short middle phalanx of the 5th finger - Short stature - Triangular shaped middle phalanx of the 2nd finger - Triangular shaped middle phalanx of the 5th finger - Ulnar deviation of the 2nd finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Klippel Feil syndrome ? | Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This condition can cause chronic headaches as well as pain in both the neck and the back. Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, affected people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy. | |
What are the symptoms of Klippel Feil syndrome ? | What are the signs and symptoms of Klippel Feil syndrome? Klippel Feil syndrome is characterized by the fusion of 2 or more spinal bones in the neck (cervical vertebrae). The condition is present from birth (congenital). The 3 most common features include a low posterior hairline (at the back of the head); a short neck; and limited neck range of motion. However, not all affected people have these features. This condition can cause chronic headaches as well as pain in both the neck and the back. KFS has been reported in people with a very wide variety of other conditions and abnormalities, including: scoliosis (curvature of the spine) cervical dystonia (painful, involuntary tensing of the neck muscles) genitourinary abnormalities (those of the reproductive organs and/or urinary system, including the kidneys) Sprengel deformity cardiac (heart) defects such as ventricular septal defect pulmonary abnormalities (relating to the lungs) and respiratory problems hearing deficits facial asymmetry, or other abnormalities of the head and face (such as cleft palate or hemifacial microsomia) torticollis central nervous system abnormalities (including Chiari malformation, spina bifida, or syringomyelia), and/or neurological symptoms other skeletal abnormalities (including those of the ribs, limbs and/or fingers) situs inversus short stature synkinesia (where movement in one hand involuntarily mimics the deliberate movement of the other hand) Wildervank syndrome Duane syndrome or other eye (ocular) abnormalities The Human Phenotype Ontology provides the following list of signs and symptoms for Klippel Feil 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal vertebral segmentation and fusion 90% Cervical vertebral fusion (C2/C3) 90% Facial asymmetry 90% Limited neck range of motion 90% Low posterior hairline 90% Short neck 90% Vertebral segmentation defect 90% Webbed neck 90% Abnormality of the ribs 50% Abnormality of the shoulder 50% Congenital muscular torticollis 50% Hearing impairment 50% Scoliosis 50% Sprengel anomaly 50% Abnormality of limb bone morphology 7.5% Abnormality of the cranial nerves 7.5% Abnormality of the sacrum 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Ectopic anus 7.5% Hemiplegia/hemiparesis 7.5% Posterior fossa cyst 7.5% Renal hypoplasia/aplasia 7.5% Spina bifida 7.5% Urogenital fistula 7.5% Ventricular septal defect 7.5% Scoliosis 30/50 Sprengel anomaly 21/50 Mixed hearing impairment 5/24 Bimanual synkinesia 9/50 Unilateral renal agenesis 7/45 Abnormality of cardiovascular system morphology 21/505 Abnormality of the pinna - Autosomal dominant inheritance - Autosomal recessive inheritance - Cervicomedullary schisis - Cleft upper lip - Conductive hearing impairment - Fused cervical vertebrae - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Klippel Feil syndrome ? | What causes Klippel Feil syndrome (KFS)? The specific underlying causes and mechanisms of Klippel Feil syndrome (KFS)are not well understood. In general medical researchers believe KFS happens when the tissue of the embroyo that normally develops into separate vertebrae does not divide correctly. More specifically, when KFS occurs with other syndromes such as fetal alcohol syndrome, Goldenhar syndrome, Wildervanck syndrome or hemifacial microsomia, medical researchers believe KFS has the same cause as the associated syndrome. Isolated KFS (meaning not associated with another syndrome) can be sporadic or inherited. Although KFS may in some cases be caused by a combination of genetic and environmental factors, mutations in at least three genes have been linked to KFS: GDF6, GDF3 and MEOX1 gene. | |
Is Klippel Feil syndrome inherited ? | Is Klippel Feil syndrome inherited? In some cases, Klippel Feil syndrome (KFS) appears to occur randomly for unknown reasons (sporadically). In other cases, the condition appears to be genetic and may occur in more than one person in a family. Both autosomal dominant and autosomal recessive inheritance patterns have been reported, with different responsible genes. When KFS is caused by changes (mutations) in the GDF6 or GDF3 genes, it is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene is enough to cause features of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. When KFS is caused by mutations in the MEOX1 gene, it is inherited in an autosomal recessive manner. This means that a person must have mutations in both copies of the responsible gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one mutated copy of the gene and are referred to as carriers. Carriers are typically unaffected. When two carriers of the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% risk to be unaffected and not be a carrier. When KFS occurs as a feature of another condition, the inheritance pattern follows that of the other condition. | |
How to diagnose Klippel Feil syndrome ? | How is Klippel Feil syndrome diagnosed? Klippel Feil syndrome (KFS) is typically diagnosed when X-rays or other imaging techniques show fusion of cervical vertebrae. X-rays of the entire spine should be performed to detect other spinal abnormalities, and additional imaging studies may be needed to assess the extent of the abnormality. KFS can be associated with a wide range of other abnormalities involving many parts of the body. Therefore, other initial exams are needed to detect additional physical abnormalities or underlying conditions. These include: examination of the chest to rule out involvement of the heart and lungs examination of the chest wall to detect possible rib anomalies MRI for spinal stenosis or neurological deficits ultrasound of the kidneys for renal abnormalities hearing evaluation due to high incidence of hearing loss Various lab tests to assess organ function Additional tests or consultations with specialists may be recommended depending on the features present in each person with KFS. | |
What are the treatments for Klippel Feil syndrome ? | How might Klippel-Feil syndrome be treated? There is no cure for Klippel Feil syndrome (KFS); treatment is generally symptomatic and supportive. Management depends on the features and severity in each person, and can be life-long. Careful evaluation, consistent follow-up, and coordination with various specialists are needed to improve outcome and make sure that no related diagnosis is missed. There are various conservative therapies available, including the use of cervical collars, braces, traction, physical therapy, non-steroidal anti-inflammatory drugs (NSAIDs), and various pain medications. However, for many people with KFS, symptoms are progressive due to degenerative changes that occur in the spine. Surgery may be indicated for a variety of reasons, including persistent pain; neurologic deficits; cervical or craniocervical instability; constriction of the spinal cord; or to correct severe scoliosis. Some people with KFS may need surgery to repair other skeletal abnormalities, or those related to the heart, kidneys, ears, eyes, or other parts of the body. Those at an increased risk for neurological complications should be regularly monitored by their health care providers and may be advised to avoid activities that could lead to trauma or injury to cervical vertebrae. | |
What is (are) Familial hemiplegic migraine type 2 ? | Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene. | |
What are the symptoms of Familial hemiplegic migraine type 2 ? | What are the signs and symptoms of Familial hemiplegic migraine type 2? The symptoms and severity can vary considerably among people with hemiplegic migraine. Signs and symptoms associated with aura may include: Visual disturbance (e.g. blind spots, flashing lights, zigzag pattern, and double vision) Sensory loss (e.g., numbness or paresthesias of the face or an extremity) Difficulty with speech (which usually occur along with right-sided weakness) Motor weakness involves areas affected by sensory symptoms and varies from mild clumsiness to complete deficit. Affected people may also experience neurologic symptoms such as confusion, drowsiness, impaired consciousness, coma, psychosis, and/or memory loss. Neurologic symptoms can last for hours to days. Attention and memory loss can last weeks to months. However, permanent motor, sensory, language, or visual symptoms are extremely rare. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine 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 Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% Aphasia - Apraxia - Autosomal dominant inheritance - Blurred vision - Coma - Confusion - Diplopia - Drowsiness - Dysarthria - Dysphasia - Episodic ataxia - Fever - Hemiparesis - Hemiplegia - Incomplete penetrance - Intellectual disability - Migraine with aura - Seizures - Transient unilateral blurring of vision - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the treatments for Familial hemiplegic migraine type 2 ? | How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic management is applied to patients with frequent, long lasting, or severe attacks. Examples of migraine drugs that have been tried with variable success in people with hemiplegic migraine, include oral verapamil, acetazolamide, lamotrigine. There are a few articles describing the use of nasal administration of ketamine, intravenous verapamil, and triptans for treatment of aura in people with hemiplegic migraine. Use of triptans in hemiplegic migraine is controversial and may be contraindicated in people with severe attacks. For further information on these and other treatments, we recommend that you speak with your healthcare provider. | |
What are the symptoms of Sjogren-Larsson-like syndrome ? | What are the signs and symptoms of Sjogren-Larsson-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren-Larsson-like 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye - Abnormality of the nervous system - Autosomal recessive inheritance - Congenital ichthyosiform erythroderma - Hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Epidermolysa bullosa simplex with muscular dystrophy ? | What are the signs and symptoms of Epidermolysa bullosa simplex with muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysa bullosa simplex with muscular dystrophy. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the fingernails 90% Alopecia 90% Myopathy 90% Neurological speech impairment 90% Ophthalmoparesis 90% Abnormality of dental enamel 50% Aplasia/Hypoplasia of the skin 50% Ptosis 50% Fatigable weakness 7.5% Anemia - Autosomal recessive inheritance - Carious teeth - Hypoplasia of dental enamel - Increased connective tissue - Keratitis - Milia - Muscular dystrophy - Nail dysplasia - Nail dystrophy - Neonatal respiratory distress - Palmoplantar hyperkeratosis - Punctate keratitis - Scarring alopecia of scalp - Short stature - Urethral stricture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features ? | What are the signs and symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of corpus callosum - Autosomal recessive inheritance - Broad eyebrow - Broad nasal tip - Clinodactyly of the 5th finger - Dental crowding - Full cheeks - High palate - Hypoplasia of the corpus callosum - Intellectual disability - Large earlobe - Macular degeneration - Pes planus - Pointed chin - Poor eye contact - Sensorineural hearing impairment - Smooth philtrum - Strabismus - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Gastric lymphoma ? | What are the signs and symptoms of Gastric lymphoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastric lymphoma. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gastric lymphoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Friedreich ataxia ? | Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. This condition is caused by mutations in the FXN gene and is inherited in an autosomal recessive pattern. | |
What are the symptoms of Friedreich ataxia ? | What are the signs and symptoms of Friedreich ataxia? Symptoms usually begin between the ages of 5 and 15 but can, on occasion, appear in adulthood or even as late as age 75. The first symptom to appear is usually difficulty in walking, or gait ataxia. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. Over time, muscles begin to weaken and waste away, especially in the feet, lower legs, and hands, and deformities develop. Other symptoms include loss of tendon reflexes, especially in the knees and ankles. There is often a gradual loss of sensation in the extremities, which may spread to other parts of the body. Dysarthria (slowness and slurring of speech) develops, and the person is easily fatigued. Rapid, rhythmic, involuntary movements of the eye (nystagmus) are common. Most people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Other symptoms that may occur include chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich ataxia, such as cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common. About 20 percent of people with Friedreich ataxia develop carbohydrate intolerance and 10 percent develop diabetes mellitus. Some people lose hearing or eyesight. The rate of progression varies from person to person. Generally, within 10 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease individuals become completely incapacitated. Life expectancy may be affected, and many people with Friedreich ataxia die in adulthood from the associated heart disease, the most common cause of death. However, some people with less severe symptoms of Friedreich ataxia live much longer, sometimes into their sixties or seventies. The Human Phenotype Ontology provides the following list of signs and symptoms for Friedreich ataxia. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Reduced visual acuity 5% Visual impairment 5% Abnormal echocardiogram - Abnormal EKG - Abnormality of visual evoked potentials - Areflexia of lower limbs - Autosomal recessive inheritance - Babinski sign - Congestive heart failure - Decreased amplitude of sensory action potentials - Decreased pyruvate carboxylase activity - Decreased sensory nerve conduction velocity - Diabetes mellitus - Dysarthria - Gait ataxia - Hypertrophic cardiomyopathy - Impaired proprioception - Juvenile onset - Limb ataxia - Mitochondrial malic enzyme reduced - Nystagmus - Optic atrophy - Pes cavus - Scoliosis - Sensory neuropathy - Visual field defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Friedreich ataxia ? | What causes Friedreich ataxia? Friedreich ataxia is caused by mutations in the FXN gene. This gene provides instructions for making a protein called frataxin. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment is made up of a series of three DNA building blocks (one guanine and two adenines) that appear multiple times in a row. Normally, this segment is repeated 5 to 33 times within the FXN gene. In people with Friedreich ataxia, the GAA segment is repeated 66 to more than 1,000 times. The length of the GAA trinucleotide repeat appears to be related to the age at which the symptoms of Friedreich ataxia appear. The abnormally long GAA trinucleotide repeat disrupts the production of frataxin, which severely reduces the amount of this protein in cells. Certain nerve and muscle cells cannot function properly with a shortage of frataxin, leading to the characteristic signs and symptoms of Friedreich ataxia. | |
Is Friedreich ataxia inherited ? | How is Friedreich ataxia inherited? Friedreich ataxia is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. | |
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 MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Hypertelorism 90% Arrhythmia 50% Epicanthus 50% Hypoplasia of the zygomatic bone 50% Macrocephaly 50% Narrow mouth 50% Short stature 50% Abnormality of thumb phalanx 7.5% Atria septal defect 7.5% Full cheeks 7.5% Long philtrum 7.5% Muscular hypotonia 7.5% Pectus carinatum 7.5% Preaxial foot polydactyly 7.5% Seizures 7.5% Thickened helices 7.5% Ventriculomegaly 7.5% Wide nasal bridge 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Pyomyositis ? | Pyomyositis is rare bacterial infection of the skeletal muscle (the muscles used for movement). Signs and symptoms may include pain and tenderness of the affected muscle, fever, and abscess formation. If left untreated, the abscess may extend into the bone and joint or blood poisoning may occur. Approximately 90% of cases are caused by the bacterium, Staphylococcus aureus. Risk factors for the condition include strenuous activity, muscle trauma, skin infections, infected insect bites, illicit drug injections, connective tissue disorders, and diabetes. Treatment generally includes surgical drainage of the abscess and antibiotics. | |
What are the symptoms of Pyomyositis ? | What are the signs and symptoms of Pyomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyomyositis. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Myalgia 90% Myositis 90% Recurrent cutaneous abscess formation 90% Leukocytosis 50% Weight loss 50% Renal insufficiency 7.5% Sepsis 7.5% Sudden cardiac death 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Lipoid proteinosis of Urbach and Wiethe ? | Lipoid proteinosis (LP) of Urbach and Wiethe is a rare condition that affects the skin and the brain. The signs and symptoms of this condition and the disease severity vary from person to person. The first sign of LP is usually a hoarse cry during infancy. Affected children then develop characteristic growths on the skin and mucus membranes in the first two years of life. Damage to the temporal lobes (the portions of the brain that process emotions and are important for short-term memory) occurs over time and can lead to seizures and intellectual disability. Other signs and symptoms may include hair loss, oligodontia, speech problems, frequent upper respiratory infections, difficulty swallowing, dystonia, and learning disabilities. LP is caused by changes (mutations) in the ECM1 gene and is inherited in an autosomal recessive manner. There is currently no cure for LP and treatment is based on the signs and symptoms present in each person. | |
What are the symptoms of Lipoid proteinosis of Urbach and Wiethe ? | What are the signs and symptoms of Lipoid proteinosis of Urbach and Wiethe? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipoid proteinosis of Urbach and Wiethe. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the eye 90% Abnormality of the voice 90% Acne 90% Atypical scarring of skin 90% Pustule 90% Thick lower lip vermilion 90% Abnormal hair quantity 50% Aplasia/Hypoplasia of the tongue 50% Feeding difficulties in infancy 50% Hyperkeratosis 50% Recurrent respiratory infections 50% Verrucae 50% Cerebral calcification 7.5% Nasal polyposis 7.5% Seizures 7.5% Abnormality of the skin - Aggressive behavior - Autosomal recessive inheritance - Bilateral intracranial calcifications - Hallucinations - Hoarse voice - Memory impairment - Paranoia - Patchy alopecia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the treatments for Lipoid proteinosis of Urbach and Wiethe ? | How might lipoid proteinosis of Urbach and Wiethe be treated? There is currently no cure for lipoid proteinosis (LP) of Urbach and Wiethe. Treatment is based on the signs and symptoms present in each person. The skin abnormalities found in people affected by LP may be treated with certain medications, including corticosteriods, dimethyl sulfoxide; or d-penicillamine. An additional medication called acitretin can be used to treat hoarseness and some skin problems. Anticonvulsant medications are often prescribed for people with seizures. The success of these medications in treating the signs and symptoms of LP varies. Affected people with growths on their vocal cords or eyelids may be treated with carbon dioxide laser surgery. Dermabrasion (removal of the top layer of skin) may also improve the appearance of skin abnormalities. | |
What is (are) Neurofibroma ? | A neurofibroma is a non-cancerous (benign) tumor that develops from the cells and tissues that cover nerves. Some people who develop neurofibromas have a genetic condition known as neurofibromatosis (NF). There are different types of NF, but type 1 is the most common. |
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