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What are the symptoms of Sudden infant death syndrome ? | What are the signs and symptoms of Sudden infant death syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sudden infant death 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) Apneic episodes in infancy - Sudden 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 are the symptoms of Baraitser-Winter syndrome ? | What are the signs and symptoms of Baraitser-Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Baraitser-Winter 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) Duplication of phalanx of hallux 5% Highly arched eyebrow 5% Microphthalmia 5% Oral cleft 5% Retrognathia 5% Ventriculomegaly 5% Abnormality of metabolism/homeostasis - Agenesis of corpus callosum - Anteverted nares - Aortic valve stenosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Bicuspid aortic valve - Chorioretinal coloboma - Cryptorchidism - Hypertelorism - Intellectual disability - Iris coloboma - Lissencephaly - Long palpebral fissure - Long philtrum - Low posterior hairline - Low-set ears - Microcephaly - Micropenis - Muscular hypotonia - Overfolded helix - Pachygyria - Patent ductus arteriosus - Pointed chin - Postnatal growth retardation - Prominent epicanthal folds - Ptosis - Seizures - Sensorineural hearing impairment - Short neck - Short nose - Short stature - Trigonocephaly - Wide mouth - Wide nasal bridge - 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) Oral leukoplakia ? | Oral leukoplakia is a diagnosis of exclusion. It describes a white plaque that does not rub off and cannot be characterized as any other condition. Though it may occur in any part of the mouth, it generally affects the tongue, gums, and inner cheek. Physicians will usually biopsy oral leukoplakia lesions as 20-40% of cases are precancerous or cancerous at the time of biopsy and another 8-15% become cancerous over time. The exact cause of oral leukoplakia is not known. Factors that may increase the risk of developing oral leukoplakia include smoking, alcohol use, vitamin deficiencies, malocclusion, and a weakened immune system.Treatment depends on the biopsy results and the size, appearance, and location of the oral leukoplakia. Removal or ablation of the lesion by surgery, laser, or cryotherapy (use of low temperature) may be recommended. | |
What are the symptoms of Cleft palate X-linked ? | What are the signs and symptoms of Cleft palate X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate X-linked. 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) Bifid uvula - Cleft palate - X-linked 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 is (are) Usher syndrome, type 1E ? | Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations. | |
What are the symptoms of Usher syndrome, type 1E ? | What are the signs and symptoms of Usher syndrome, type 1E? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1E. 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) Autosomal recessive inheritance - Congenital sensorineural hearing impairment - Rod-cone dystrophy - Vestibular areflexia - 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 Usher syndrome, type 1E inherited ? | How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected. | |
What is (are) Myhre syndrome ? | Myhre syndrome is a rare inherited disorder characterized by intellectual disability, short stature, unusual facial features, and various bone (skeletal) abnormalities. Other findings may include hearing impairment, abnormal enlargement of the muscles (muscle hypertrophy), and/or joint stiffness. Myhre syndrome is caused by mutations in the SMAD4 gene. This condition is inherited in an autosomal dominant pattern. Most cases are due to a new mutation. | |
What are the symptoms of Myhre syndrome ? | What are the signs and symptoms of Myhre syndrome? Myhre syndrome is a condition with features affecting many systems and functions of the body. Associated findings might include: Delayed development of language and motor skills such as crawling and walking Intellectual disability that ranges from mild to moderate Behavioral issues such as features of autism or related developmental disorders affecting communication and social interaction Hearing loss, which can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss) Reduced growth, beginning before birth and continuing through adolescence and affecting weight and height (many are shorter than about 97 percent of their peers) Stiffness of the skin resulting in a muscular appearance Skeletal abnormalities including thickening of the skull bones, flattened bones of the spine (platyspondyly), broad ribs, underdevelopment of the winglike structures of the pelvis (hypoplastic iliac wings), and unusually short fingers and toes (brachydactyly) Joint problems (arthropathy), including stiffness and limited mobility Typical facial features including narrow openings of the eyelids (short palpebral fissures), a shortened distance between the nose and upper lip (a short philtrum), a sunken appearance of the middle of the face (midface hypoplasia), a small mouth with a thin upper lip, and a protruding jaw (prognathism) An opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or both Constriction of the throat (laryngotracheal stenosis) High blood pressure (hypertension) Heart or eye abnormalities In males, undescended testes (cryptorchidism) The Human Phenotype Ontology provides the following list of signs and symptoms for Myhre 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 pelvic girdle bone morphology 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Hearing impairment 90% Intrauterine growth retardation 90% Limitation of joint mobility 90% Malar flattening 90% Mandibular prognathia 90% Narrow mouth 90% Platyspondyly 90% Short philtrum 90% Short stature 90% Skeletal muscle hypertrophy 90% Thin vermilion border 90% Abnormality of the cardiac septa 50% Abnormality of the metaphyses 50% Blepharophimosis 50% Cryptorchidism 50% EMG abnormality 50% Hypermetropia 50% Hypertension 50% Ptosis 50% Thickened skin 50% Behavioral abnormality 7.5% Cataract 7.5% Cleft palate 7.5% Displacement of the external urethral meatus 7.5% Hernia of the abdominal wall 7.5% Non-midline cleft lip 7.5% Precocious puberty 7.5% Ataxia 5% Microphthalmia 5% Obesity 5% Oral cleft 5% Respiratory failure 5% Respiratory insufficiency 5% 2-3 toe syndactyly - Abnormality of the voice - Aortic valve stenosis - Autism - Autosomal dominant inheritance - Broad ribs - Camptodactyly - Clinodactyly - Coarctation of aorta - Cone-shaped epiphysis - Deeply set eye - Enlarged vertebral pedicles - Fine hair - Generalized muscle hypertrophy - Hypertelorism - Hypoplasia of midface - Hypoplasia of the maxilla - Hypoplastic iliac wing - Intellectual disability - Laryngotracheal stenosis - Low-set ears - Microcephaly - Microtia - Overlapping toe - Patent ductus arteriosus - Pericardial effusion - Prominent nasal bridge - Radial deviation of finger - Seizures - Short finger - Short long bone - Short neck - Short toe - Sparse hair - Stiff skin - Strabismus - Thick eyebrow - Thickened calvaria - Vertebral fusion - 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 Myhre syndrome ? | What causes Myhre syndrome? Myhre syndrome is caused by mutations in the SMAD4 gene. This gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor beta (TGF-) pathway, allows the environment outside the cell to affect how the cell produces other proteins. As part of this pathway, the SMAD4 protein interacts with other proteins to control the activity of particular genes. These genes influence many areas of development. Some researchers believe that the SMAD4 gene mutations that cause Myhre syndrome impair the ability of the SMAD4 protein to attach (bind) properly with the other proteins involved in the signaling pathway. Other studies have suggested that these mutations result in an abnormally stable SMAD4 protein that remains active in the cell longer. Changes in SMAD4 binding or availability may result in abnormal signaling in many cell types, which affects development of several body systems and leads to the signs and symptoms of Myhre syndrome. | |
Is Myhre syndrome inherited ? | How is Myhre syndrome inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family. | |
What are the treatments for Myhre syndrome ? | How might Myhre syndrome be treated? Treatment of this condition is symptomatic and supportive. Children with Myhre syndrome may require management by a team of specialists, including pediatricians, speech pathologists, orthopedists (bone specialists), cardiologists (heart specialists), audiologists (hearing specialists), and physical therapists. Early intervention is important to help ensure that children with Myhre syndrome reach their full potential. | |
What are the symptoms of X-linked intellectual disability, Najm type ? | What are the signs and symptoms of X-linked intellectual disability, Najm type? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked intellectual disability, Najm 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 cerebellum 90% Cognitive impairment 90% Abnormality of the nose 50% Broad forehead 50% Cataract 50% Cerebral cortical atrophy 50% Gait disturbance 50% Hypertelorism 50% Long philtrum 50% Macrotia 50% Microcephaly 50% Myopia 50% Nystagmus 50% Seizures 50% Sensorineural hearing impairment 50% Strabismus 50% Visual impairment 50% Chorioretinal coloboma 7.5% Hypertonia 7.5% Macrogyria 7.5% Neurological speech impairment 7.5% Optic atrophy 7.5% Optic disc pallor 7.5% Optic nerve hypoplasia 7.5% Scoliosis 7.5% Absent speech - Broad nasal tip - Cerebellar hypoplasia - Decreased body weight - Dilated fourth ventricle - Epicanthus - Generalized hypotonia - High palate - Hyperreflexia - Hypohidrosis - Intellectual disability, moderate - Large eyes - Muscle weakness - Muscular hypotonia of the trunk - Oval face - Postnatal growth retardation - Prominent nasal bridge - Short nose - Short stature - Spasticity - Wide nasal bridge - 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 is (are) Erythema multiforme ? | Erythema multiforme (EM) refers to a group of hypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN). | |
What is (are) Tetrasomy X ? | Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. The signs and symptoms of tetrasomy X vary, but can include mild to moderate speech and learning difficulties; developmental delay; distinctive facial features; dental abnormalities; hypotonia and joint laxity; radioulnar synostosis; heart defects; hip dysplasia; and problems with ovarian function. An increased risk of childhood infections has also been reported. Tetrasomy X is caused by a random error that occurs during the development of an egg cell and is not caused by anything a mother does during her pregnancy. | |
What are the symptoms of Tetrasomy X ? | What are the signs and symptoms of Tetrasomy X? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetrasomy X. 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 chromosome segregation 90% Abnormality of the teeth 50% Cognitive impairment 50% Epicanthus 50% Hypertelorism 50% Joint hypermobility 50% Muscular hypotonia 50% Radioulnar synostosis 50% Strabismus 50% Upslanted palpebral fissure 50% Abnormality of immune system physiology 7.5% Abnormality of the hip bone 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Secondary amenorrhea 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 Tetrasomy X ? | What causes tetrasomy X? Tetrasomy X is usually caused by a random error in the formation of an egg cell (before pregnancy). In some cases, it may be due to inheriting three X chromosomes from the mother and one X chromosome from the father. In other cases, it may be due to inheriting all four X chromosomes from the mother. During the normal formation of egg cells, each egg cell contains one X chromosome to pass on to offspring. However, errors in cell division can cause an egg cell to have three or four X chromosomes, instead of one. If an egg cell with the extra X chromosomes is fertilized by a sperm cell with one X chromosome, the resulting embryo will have these extra chromosomes. Rarely, tetrasomy X may be caused by an error in cell division that occurs after an egg is fertilized, or by the presence of extra X chromosomes in some of the mother's cells. | |
What are the symptoms of Martsolf syndrome ? | What are the signs and symptoms of Martsolf syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Martsolf 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 dermatoglyphics 90% Cataract 90% Cognitive impairment 90% Furrowed tongue 90% Hypoplasia of the zygomatic bone 90% Low posterior hairline 90% Malar flattening 90% Microcephaly 90% Prematurely aged appearance 90% Short philtrum 90% Short stature 90% Abnormality of calvarial morphology 50% Abnormality of the distal phalanx of finger 50% Abnormality of the palate 50% Abnormality of the teeth 50% Abnormality of the toenails 50% Cryptorchidism 50% Depressed nasal bridge 50% Hyperlordosis 50% Hypotelorism 50% Low-set, posteriorly rotated ears 50% Ulnar deviation of finger 50% Abnormality of the antihelix 7.5% Cerebral cortical atrophy 7.5% Scoliosis 7.5% Autosomal recessive inheritance - Brachycephaly - Broad fingertip - Broad nasal tip - Cardiomyopathy - Congestive heart failure - Epicanthus - Feeding difficulties in infancy - High palate - Hypogonadotrophic hypogonadism - Hypoplasia of the maxilla - Intellectual disability, progressive - Intellectual disability, severe - Lumbar hyperlordosis - Micropenis - Misalignment of teeth - Pectus carinatum - Pectus excavatum - Posteriorly rotated ears - Prominent antitragus - Prominent nipples - Recurrent respiratory infections - Short metacarpal - Short palm - Short phalanx of finger - Short toe - Slender ulna - Talipes equinovarus - Talipes valgus - Tracheomalacia - 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) Craniometaphyseal dysplasia, autosomal dominant ? | Autosomal dominant craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bones in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves. If untreated, compression of the cranial nerves can be disabling. The condition is caused by mutations in the ANKH gene. As the name suggests, it is inherited in an autosomal dominant manner. Treatment may include surgery to reduce compression of cranial nerves and recontouring of the facial bones. | |
What are the symptoms of Craniometaphyseal dysplasia, autosomal dominant ? | What are the signs and symptoms of Craniometaphyseal dysplasia, autosomal dominant? Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a prominent jaw. Excessive new bone formation (hyperostosis) in the jaw can delay teething (dentition) or result in absent teeth. Infants with this condition may have breathing or feeding problems caused by narrow nasal passages. In severe cases, abnormal bone growth can compress the nerves that emerge from the brain and extend to various areas of the head and neck (cranial nerves). Compression of the cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), blindness, or deafness. The x-rays of individuals with craniometaphyseal dysplasia show unusually shaped long bones, particularly the large bones in the legs. The ends of these bones (metaphyses) are wider and appear less dense in people with this condition. The symptoms seen in autosomal recessive craniometaphyseal dysplasia are typically more severe than those seen in the autosomal dominant form. The Human Phenotype Ontology provides the following list of signs and symptoms for Craniometaphyseal dysplasia, autosomal dominant. 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 metaphyses 90% Craniofacial hyperostosis 90% Depressed nasal bridge 90% Hypertelorism 90% Increased bone mineral density 90% Wide nasal bridge 90% Skeletal dysplasia 50% Telecanthus 50% Conductive hearing impairment 7.5% Facial palsy 7.5% Sensorineural hearing impairment 7.5% Visual impairment 7.5% Abnormality of pelvic girdle bone morphology - Abnormality of the nasopharynx - Abnormality of the vertebral column - Autosomal dominant inheritance - Bony paranasal bossing - Calvarial osteosclerosis - Club-shaped distal femur - Erlenmeyer flask deformity of the femurs - Macrocephaly - Mandibular prognathia - Metaphyseal widening - Misalignment of teeth - Mixed hearing impairment - Nasal obstruction - Sclerosis of skull base - 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 Craniometaphyseal dysplasia, autosomal dominant ? | What causes autosomal dominant craniometaphyseal dysplasia? Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the ANKH gene. The ANKH gene provides instructions for making a protein that is present in bone and transports a molecule called pyrophosphate out of cells. Pyrophosphate helps regulate bone formation by preventing mineralization, the process by which minerals such as calcium and phosphorus are deposited in developing bones. The ANKH protein may have other, unknown functions. Mutations in the ANKH gene that cause autosomal dominant craniometaphyseal dysplasia may decrease the ANKH protein's ability to transport pyrophosphate out of cells. Reduced levels of pyrophosphate can increase bone mineralization, contributing to the bone overgrowth seen in craniometaphyseal dysplasia. Why long bones are shaped differently and only the skull bones become thicker in people with this condition remains unclear. | |
Is Craniometaphyseal dysplasia, autosomal dominant inherited ? | How is autosomal dominant craniometaphyseal dysplasia inherited? Autosomal dominant craniometaphyseal dysplasia is inherited in an autosomal dominant pattern, which means one altered copy of the ANKH gene in each cell is sufficient to cause the disorder. Individuals with autosomal dominant craniometaphyseal dysplasia typically have one parent who also has the condition. Less often, cases result from new mutations in the gene and occur in people with no history of the disorder in their family. | |
What are the treatments for Craniometaphyseal dysplasia, autosomal dominant ? | How might craniometaphyseal dysplasia be treated? Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrowth is common. Individuals with craniometaphyseal dysplasia should have regular neurologic evaluations, hearing assessments, and ophthalmologic examinations. The frequency of these evaluations and assessments should be determined by the individual's history and severity of skeletal changes. | |
What are the symptoms of Punctate palmoplantar keratoderma type 2 ? | What are the signs and symptoms of Punctate palmoplantar keratoderma type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Punctate palmoplantar keratoderma 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) Aplasia/Hypoplasia of the skin 90% Palmoplantar keratoderma 90% Neoplasm of the skin 7.5% Autosomal dominant inheritance - Palmar telangiectasia - Plantar telangiectasia - Porokeratosis - 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) Juvenile dermatomyositis ? | Juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis. It typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema, muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. Children with juvenile dermatomyositis may have difficulty swallowing and breathing, and the heart may also be affected. About 20 to 30 percent of children with juvenile dermatomyositis develop calcium deposits in the soft tissue. Affected children may not show higher than normal levels of the muscle enzyme creatine kinase in their blood but have higher than normal levels of other muscle enzymes. | |
What are the symptoms of Juvenile dermatomyositis ? | What are the signs and symptoms of Juvenile dermatomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile dermatomyositis. 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% Chondrocalcinosis 90% Dry skin 90% Mucosal telangiectasiae 90% Muscle weakness 90% Myalgia 90% Periorbital edema 90% Skin rash 90% Telangiectasia of the skin 90% Abnormality of temperature regulation 50% Alopecia 50% Arthralgia 50% Arthritis 50% Constipation 50% Cutaneous photosensitivity 50% Flexion contracture 50% Muscular hypotonia 50% Poikiloderma 50% Pruritus 50% Restrictive lung disease 50% Skin ulcer 50% Vasculitis 50% Abdominal pain 7.5% Abnormality of the pericardium 7.5% Abnormality of the voice 7.5% Arrhythmia 7.5% Coronary artery disease 7.5% EMG abnormality 7.5% Feeding difficulties in infancy 7.5% Gastrointestinal hemorrhage 7.5% Hypertrophic cardiomyopathy 7.5% Limitation of joint mobility 7.5% Neurological speech impairment 7.5% Pulmonary fibrosis 7.5% Respiratory insufficiency 7.5% Weight loss 7.5% Autosomal dominant inheritance - Myositis - Proximal muscle weakness - 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) Axenfeld-Rieger syndrome type 1 ? | Axenfeld-Rieger syndrome is a group of eye disorders that affects the development of the eye. Common eye symptoms include cornea defects, which is the clear covering on the front of the eye, and iris defects, which is the colored part of the eye. People with this syndrome may have an off-center pupil (corectopia) or extra holes in the eyes that can look like multiple pupils (polycoria). About 50% of people with this syndrome develop glaucoma, which is a serious condition that increases pressure inside of the eye. This may cause vision loss or blindness. Click here to view a diagram of the eye. Even though Axenfeld-Rieger syndrome is primarily an eye disorder, this syndrome is also associated with symptoms that affect other parts of the body. Most people with this syndrome have distinctive facial features and many have issues with their teeth, including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people have extra folds of skin around their belly button, heart defects, or other more rare birth defects. There are three types of Axenfeld-Rieger syndrome and each has a different genetic cause. Axenfeld-Rieger syndrome type 1 is caused by spelling mistakes (mutations) in the PITX2 gene. Axenfeld-Rieger syndrome type 3 is caused by mutations in the FOXC1 gene. The gene that causes Axenfeld-Rieger syndrome type 2 is not known, but it is located on chromosome 13. Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance. | |
What are the symptoms of Axenfeld-Rieger syndrome type 1 ? | What are the signs and symptoms of Axenfeld-Rieger syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Axenfeld-Rieger syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the anterior chamber 90% Aplasia/Hypoplasia of the iris 90% Posterior embryotoxon 90% Glaucoma 50% Hearing impairment 50% Malar flattening 50% Abnormality of the hypothalamus-pituitary axis 7.5% Cutis laxa 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Frontal bossing 7.5% Hypertelorism 7.5% Microdontia 7.5% Reduced number of teeth 7.5% Telecanthus 7.5% Urogenital fistula 7.5% Abnormality of the abdominal wall - Abnormally prominent line of Schwalbe - Anal atresia - Anal stenosis - Aniridia - Autosomal dominant inheritance - Growth hormone deficiency - Hypodontia - Hypoplasia of the iris - Hypoplasia of the maxilla - Hypospadias - Megalocornea - Microcornea - Polycoria - Prominent supraorbital ridges - Rieger anomaly - Short philtrum - Strabismus - Variable expressivity - Wide nasal bridge - 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 Axenfeld-Rieger syndrome type 1 ? | Is genetic testing available for Axenfeld Rieger syndrome? The Genetic Testing Registry (GTR) is a central online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. To view the clinical laboratories conducting testing click here. | |
What are the treatments for Axenfeld-Rieger syndrome type 1 ? | Can dislocated lenses in patients with Axenfeld-Rieger syndrome be treated? We were unable to find information in the medical literature regarding the management of dislocated lenses in patients with Axenfeld-Rieger syndrome. We encourage you to speak with a healthcare provider experienced in the management of rare eye disorders. The American Association of Eye and Ear Centers of Excellence provides a list of member clinics and the Eye Research Network provides a list of eye research facilities that may be helpful as you search for clinics. Click on the links to view the lists. Please note that the lists are not exhaustive of all specialty and research eye clinics within the United States or abroad. | |
What are the symptoms of Kleefstra syndrome ? | What are the signs and symptoms of Kleefstra syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kleefstra 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) Anteverted nares 90% Cognitive impairment 90% Hypertelorism 90% Intellectual disability 90% Malar flattening 90% Muscular hypotonia 90% Neurological speech impairment 90% Short nose 90% Tented upper lip vermilion 90% Abnormality of the aorta 50% Abnormality of the aortic valve 50% Arrhythmia 50% Autism 50% Brachycephaly 50% Broad forehead 50% Coarse facial features 50% Constipation 50% Delayed speech and language development 50% Hearing impairment 50% Highly arched eyebrow 50% Macroglossia 50% Mandibular prognathia 50% Microcephaly 50% Obesity 50% Otitis media 50% Protruding tongue 50% Sleep disturbance 50% Synophrys 50% Thickened helices 50% Upslanted palpebral fissure 50% U-Shaped upper lip vermilion 50% Ventricular septal defect 50% Aggressive behavior 33% Cryptorchidism 33% Hypospadias 33% Micropenis 33% Recurrent respiratory infections 33% Stereotypic behavior 33% Seizures 30% Abnormality of the pulmonary artery 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Bowel incontinence 7.5% Cerebral cortical atrophy 7.5% Delayed eruption of teeth 7.5% Developmental regression 7.5% Downturned corners of mouth 7.5% Facial asymmetry 7.5% Hernia 7.5% Limitation of joint mobility 7.5% Natal tooth 7.5% Persistence of primary teeth 7.5% Pyloric stenosis 7.5% Renal cyst 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Scoliosis 7.5% Self-injurious behavior 7.5% Short stature 7.5% Supernumerary nipple 7.5% Talipes equinovarus 7.5% Tetralogy of Fallot 7.5% Ventriculomegaly 7.5% Vesicoureteral reflux 7.5% Gastroesophageal reflux 5% Apathy 1% Tracheobronchomalacia 1% Microcephaly 8/22 Hearing impairment 3/22 Autosomal dominant inheritance - Brachydactyly syndrome - Flat face - Hypoplasia of midface - Intellectual disability, severe - Obsessive-compulsive behavior - Single transverse palmar crease - 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 are the symptoms of Renal tubular acidosis, distal, autosomal dominant ? | What are the signs and symptoms of Renal tubular acidosis, distal, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis, distal, autosomal dominant. 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) Autosomal dominant inheritance - Hypocalcemia - Nephrocalcinosis - Osteomalacia - Pathologic fracture - Periodic hypokalemic paresis - Periodic paralysis - Postnatal growth retardation - Renal tubular acidosis - 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 Cardioauditory syndrome of Sanchez Cascos ? | What are the signs and symptoms of Cardioauditory syndrome of Sanchez Cascos? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardioauditory syndrome of Sanchez Cascos. 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) Autosomal recessive inheritance - Hearing impairment - Increased dermatoglyphic whorls - Ventricular hypertrophy - 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) Olmsted syndrome ? | Olmsted syndrome is a rare congenital (present from birth) disorder characterized by symmetrical, well-defined palmoplantar keratoderma (PPK) surrounded by reddened skin and deformities of the joints that lead to constriction and spontaneous amputation; horny growths around the eyes and mouth, nail abnormalities, white thickened patches around the anus and mouth; and sparse hair. It may be complicated by multiple infections and squamous cell carcinoma. Olmstead syndrome is caused by mutations in the TRPV3 gene. It is transmitted through autosomal dominant inheritance. Treatment includes oral and topical retinoids, such as acetretin. | |
What are the symptoms of Olmsted syndrome ? | What are the signs and symptoms of Olmsted syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Olmsted 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 fingernails 90% Hypohidrosis 90% Limitation of joint mobility 90% Palmoplantar keratoderma 90% Abnormality of bone mineral density 50% Carious teeth 50% Reduced number of teeth 50% Sensorineural hearing impairment 50% Skin ulcer 50% Alopecia 7.5% Melanoma 7.5% Neoplasm of the lung 7.5% Neoplasm of the skin 7.5% Osteolysis 7.5% Seizures 7.5% Alopecia universalis 5% Corneal opacity 5% Hyperhidrosis 5% Opacification of the corneal stroma 5% Sparse hair 5% Autosomal dominant inheritance - Flexion contracture - Nail dysplasia - Nail dystrophy - Parakeratosis - Pruritus - Subungual 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 Carnosinemia ? | What are the signs and symptoms of Carnosinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnosinemia. 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) Aminoaciduria 90% Cognitive impairment 90% Developmental regression 90% EEG abnormality 90% Seizures 90% Autosomal recessive inheritance - Carnosinuria - Generalized myoclonic seizures - Intellectual disability - 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) Pilocytic astrocytoma ? | Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea, vomiting, balance problems, and vision abnormalities. The underlying cause of a pilocytic astrocytoma is unknown. It most commonly occurs in children and young adults, and in people with neurofibromatosis type 1 (NF1), Li-Fraumeni syndrome, and tuberous sclerosis. This type of tumor can often be cured with surgery. | |
What are the symptoms of Pilocytic astrocytoma ? | What are the signs and symptoms of pilocytic astrocytoma? People with pilocytic astrocytomas might experience symptoms including: headaches, nausea, vomiting, irritability, ataxia (uncoordinated movement or unsteady gait), and vision issues. These symptoms are associated with increased pressure within the skull resulting from the tumor or hydrocephalus. | |
What causes Pilocytic astrocytoma ? | What causes pilocytic astrocytoma? The exact underlying cause of pilocytic astrocytomas is currently unknown. Although most are thought to be sporadic (occurring by chance in an affected individual), they are known to be associated with certain genetic disorders including neurofibromatosis type I (NF1), Li-Fraumeni syndrome, and tuberous sclerosis. | |
Is Pilocytic astrocytoma inherited ? | Are pilocytic astrocytomas inherited? Pilocytic astrocytomas are typically sporadic, occurring by chance in individuals with no history of the condition in the family. Sporadic abnormalities are not inherited from a parent and are not likely to recur in a family. Familial cases of isolated astrocytomas are very rare. Although most individuals with a pilocytic astrocytoma do not have an underlying genetic condition, astrocytomas have been associated with a few "predisposing" genetic syndromes. Individuals with these syndromes will not necessarily develop one; these tumors just occur with a greater frequency in affected individuals. Genetic syndromes in which astrocytomas have been reported to occur include: neurofibromatosis type 1 Turcot syndrome Li-Fraumeni syndrome tuberous sclerosis All of these genetic conditions follow an autosomal dominant pattern of inheritance. Individuals who are interested in learning about personal genetic risks for these conditions and/or genetic testing options for themselves or family members should speak with a genetics professional. | |
What are the symptoms of Familial visceral myopathy with external ophthalmoplegia ? | What are the signs and symptoms of Familial visceral myopathy with external ophthalmoplegia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial visceral myopathy with external ophthalmoplegia. 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 gastric mucosa 90% Decreased body weight 90% Malabsorption 90% Myopathy 90% Ptosis 90% Skeletal muscle atrophy 90% Abnormality of the mitral valve 7.5% Abdominal distention - Abdominal pain - Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - External ophthalmoplegia - Gastroparesis - Malnutrition - Ophthalmoplegia - Peripheral neuropathy - Spontaneous esophageal perforation - 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 Neutropenia lethal congenital with eosinophilia ? | What are the signs and symptoms of Neutropenia lethal congenital with eosinophilia? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutropenia lethal congenital with eosinophilia. 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) Autosomal recessive inheritance - Congenital neutropenia - Eosinophilia - Neonatal 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 are the symptoms of Amish infantile epilepsy syndrome ? | What are the signs and symptoms of Amish infantile epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Amish infantile epilepsy 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) Hearing impairment 5% Microcephaly 5% Absent speech - Autosomal recessive inheritance - Choreoathetosis - Cortical visual impairment - Developmental regression - Developmental stagnation at onset of seizures - Failure to thrive - Feeding difficulties in infancy - Generalized tonic-clonic seizures - Global brain atrophy - Hyporeflexia of upper limbs - Irritability - Lower limb hyperreflexia - Muscular hypotonia - Myoclonus - Optic atrophy - Status epilepticus - Visual loss - 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 is (are) Medium-chain acyl-coenzyme A dehydrogenase deficiency ? | Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. People with MCADD do not have enough of an enzyme needed for the step that metabolizes a group of fats called medium-chain fatty acids. MCADD is caused by mutations in the ACADM gene and is inherited in an autosomal recessive manner. Treatment includes avoidance of fasting and of medium chain triglycerides in the diet. | |
What are the symptoms of Medium-chain acyl-coenzyme A dehydrogenase deficiency ? | What are the signs and symptoms of Medium-chain acyl-coenzyme A dehydrogenase deficiency? The initial signs and symptoms of medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) typically occur during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia). In rare cases, the first episode of problems related to MCADD occurs during adulthood. The signs and symptoms of MCADD can be triggered by periods of fasting, or during illnesses such as viral infections, particularly when eating is reduced. People with MCADD are also at risk of serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden, unexpected death. The Human Phenotype Ontology provides the following list of signs and symptoms for Medium-chain acyl-coenzyme A dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cerebral edema - Coma - Decreased plasma carnitine - Elevated hepatic transaminases - Hepatic steatosis - Hepatomegaly - Hyperglycinuria - Hypoglycemia - Lethargy - Medium chain dicarboxylic aciduria - Muscular hypotonia - Seizures - 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 Medium-chain acyl-coenzyme A dehydrogenase deficiency ? | What causes medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency? Mutations in the ACADM gene cause medium-chain acyl-coenzyme A dehydrogenase deficiency. Mutations in the ACADM gene lead to inadequate levels of an enzyme called medium-chain acyl-coenzyme A dehydrogenase. Without sufficient amounts of this enzyme, medium-chain fatty acids from food and fats stored in the body are not metabolized properly. As a result, these fats are not converted to energy, which can lead to characteristic signs and symptoms of this disorder such as lethargy and low blood sugar. Medium-chain fatty acids or partially metabolized fatty acids may accumulate in tissues and can damage the liver and brain, causing serious complications. | |
Is Medium-chain acyl-coenzyme A dehydrogenase deficiency inherited ? | How is medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency inherited? Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. Usually, the parents of a person with an autosomal recessive condition each have one mutated copy of the gene and are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to be unaffected and not be a carrier. | |
How to diagnose Medium-chain acyl-coenzyme A dehydrogenase deficiency ? | How is medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) diagnosed? MCADD is now included in many newborn screening programs. If a newborn screening result for MCADD is not in the normal range, additional testing is recommended. A diagnosis of MCADD can be made through a blood test called a plasma acylcarnitine profile and an evaluation of organic acids in the urine. The diagnosis can also be confirmed by genetic testing. | |
What is (are) Large granular lymphocyte leukemia ? | Large granular lymphocyte (LGL) leukemia is a rare cancer of a type of white blood cells called lymphocytes. LGL leukemia causes a slow increase in white blood cells called T lymphocytes, or T cells, which originate in the lymph system and bone marrow and help to fight infection. This disease usually affects people in their sixties. Symptoms include anemia; low levels of platelets (thrombocytopenia) and infection-fighting neutrophils (neutropenia) in the blood; and an enlarged spleen. About one-third of patients are asymptomatic at the time of diagnosis. The exact cause of LGL leukemia is unknown. Doctors can diagnose this disease through a bone marrow biopsy, or by using a specialized technique in which various types of blood or bone marrow cells are separated, identified, and counted. | |
What are the symptoms of Dwarfism Levi type ? | What are the signs and symptoms of Dwarfism Levi type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism Levi 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 face - Autosomal dominant inheritance - Autosomal recessive inheritance - Severe short stature - Small for gestational age - 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) Norum disease ? | Norum disease is an autosomal recessive disorder of lipoprotein metabolism that causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal (kidney) failure. Two clinical forms are recognized: familial LCAT deficiency and fish-eye disease. Familial LCAT deficiency is associated with a complete absence of alpha and beta LCAT activities and results in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). | |
What are the symptoms of Norum disease ? | What are the signs and symptoms of Norum disease? Norum disease is marked by low plasma HDL levels and corneal clouding due to accumulation of cholesterol deposits in the cornea ('fish-eye'). Corneal opacity is often present at birth, beginning at the periphery of the cornea and progressing gradually to the center. Hemolytic anemia, and proteinuria are other common findings. This condition may also present with: Papilledema (swelling of the optic nerve) with impaired ocular blood supply, leading to functional visual loss Signs of renal insufficiency, including hypertension Signs of atherosclerosis Xanthelasma (in end-stage disease) Hepatomegaly Splenomegaly Lymphadenopathy The Human Phenotype Ontology provides the following list of signs and symptoms for Norum 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) Autosomal recessive inheritance - Hemolytic anemia - Hypertriglyceridemia - Hypoalphalipoproteinemia - Normochromic anemia - Opacification of the corneal stroma - Proteinuria - 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 causes Norum disease ? | What causes Norum disease? Norum disease is caused by defects in the LCAT gene. The clinical manifestations of LCAT deficiency are probably due to a defect in LCAT-mediated cholesterol ester formation and, therefore, accumulation of unesterified cholesterol in certain tissues, such as the cornea, kidneys, and erythrocytes (red blood cells). | |
Is Norum disease inherited ? | How is Norum disease inherited? Norum disease is transmitted as an autosomal recessive trait, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Sporadic cases have also been reported. | |
What are the treatments for Norum disease ? | How might Norum disease be treated? Symptomatic treatment for anemia, renal insufficiency, and atherosclerosis is indicated. LCAT gene therapy or liver transplantation theoretically would be a treatment of choice to correct the underlying pathophysiology, but neither procedure has been reported. Short-term whole blood or plasma transfusion has been tried to replace the LCAT enzyme in some patients with familial LCAT deficiency, but it did not correct anemia, proteinuria, or lipoprotein abnormalities. Renal replacement by dialysis is necessary in those individuals who develop kidney failure. Kidney transplantation is indicated in patients with familial LCAT deficiency and renal failure. Corneal transplantation is indicated in patients with corneal opacities with severely reduced vision. Restriction of fat intake may be advisable in patients with familial LCAT deficiency, but no evidence supports its potential benefits. Because of the small but measurable risk of atherosclerosis in persons with LCAT deficiency, exercise, under the guidance of a physician, theoretically would have a role in prevention of this complication. | |
What are the symptoms of Hydrolethalus syndrome ? | What are the signs and symptoms of Hydrolethalus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrolethalus 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) Polyhydramnios 92% Severe hydrocephalus 92% Microphthalmia 86% Postaxial hand polydactyly 77% Cleft in skull base 76% Stillbirth 73% Abnormality of the pinna 70% Low-set ears 70% Abnormal lung lobation 66% Laryngeal hypoplasia 57% Tracheal stenosis 57% Cleft palate 55% Talipes equinovarus 52% Complete atrioventricular canal defect 48% Duplication of phalanx of hallux 47% Bifid uterus 33% Hypospadias 33% Upper limb undergrowth 24% Hydronephrosis 16% Abnormal cortical gyration - Abnormality of the vagina - Absent septum pellucidum - Accessory spleen - Adrenal gland dysgenesis - Agenesis of corpus callosum - Agenesis of the diaphragm - Arrhinencephaly - Autosomal recessive inheritance - Bifid nose - Broad neck - Dandy-Walker malformation - Heterotopia - Intrauterine growth retardation - Median cleft lip - Omphalocele - Preaxial hand polydactyly - Proximal tibial hypoplasia - 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 are the symptoms of Mental retardation, X-linked, nonspecific ? | What are the signs and symptoms of Mental retardation, X-linked, nonspecific? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation, X-linked, nonspecific. 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) Seizures 5% Autism - Dental crowding - Hyperactivity - Hypertelorism - Intellectual disability - Intellectual disability, moderate - Joint hypermobility - Mandibular prognathia - Open mouth - Short nose - Synophrys - Tented upper lip vermilion - Uplifted earlobe - Upslanted palpebral fissure - 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 is (are) Vernal keratoconjunctivitis ? | Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affects the surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name "vernal") and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; and involuntary blinking or spasms of the eyelid (blepharospasm). The condition usually subsides at the onset of puberty. It is caused by a hypersensitivity (allergic reaction) to airborne-allergens. Management focuses on preventing "flare ups" and relieving the symptoms of the condition. | |
What are the treatments for Vernal keratoconjunctivitis ? | How might vernal keratoconjunctivitis be treated? Management of vernal keratoconjunctivitis (VKC) focuses on preventing allergic attacks as well as relieving the signs and symptoms of the condition. It is often recommended that affected individuals try to avoid the agent that causes the allergy (if possible); wear dark sunglasses in the daytime; avoid dust; and stay inside on hot afternoons. Eye drops that affect the amount of histamine released by immune system cells (called mast cell stabilizers) may be used at the beginning of the season or at the first sign of a "flare-up" to prevent severe symptoms; however, they are not considered effective at relieving symptoms. Topical eye drops are generally preferred as the first source of treatment. Cold compresses, artificial tears, ointments and/or topical antihistamines may help. Non-steroid anti-inflammatory drugs (NSAIDS) may relieve symptoms in moderate cases; topical steroids are typically only used for more severe cases because long-term use can cause glaucoma. A few prescription drugs may also be available for the treatment of VKC; these include cromolyn sodium, lodoxamide tromethamine and Levocabastine. Oral administration of montelukast, a drug usually prescribed for asthma, has also been shown to be an effective treatment of VKC. For more information about these drugs and their availability, individuals should speak with their health care providers. | |
What is (are) Moebius syndrome ? | Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. Signs and symptoms of the condition may include weakness or paralysis of the facial muscles; feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; eye sensitivity; high or cleft palate; hearing problems; dental abnormalities; bone abnormalities in the hands and feet; and/or speech difficulties. Affected children often experience delayed development of motor skills (such as crawling and walking), although most eventually acquire these skills. Moebius syndrome is caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movement and facial expression. Other cranial nerves may also be affected. There is no cure for Moebius syndrome, but proper care and treatment give many individuals a normal life expectancy. | |
What are the symptoms of Moebius syndrome ? | What are the signs and symptoms of Moebius syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Moebius 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 voice 90% Mask-like facies 90% Open mouth 90% Ophthalmoparesis 90% Ptosis 90% Strabismus 90% Delayed speech and language development 55% Aplasia of the pectoralis major muscle 50% Brachydactyly syndrome 50% Feeding difficulties in infancy 50% Muscular hypotonia 50% Opacification of the corneal stroma 50% Talipes 50% Hypertelorism 25% Bifid uvula 11% Abnormality of the sense of smell 7.5% Abnormality of the ulna 7.5% Absent hand 7.5% Aplasia/Hypoplasia of the radius 7.5% Aplasia/Hypoplasia of the thumb 7.5% Aplasia/Hypoplasia of the tongue 7.5% Autism 7.5% Blepharitis 7.5% Breast aplasia 7.5% Cafe-au-lait spot 7.5% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Epicanthus 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Microdontia 7.5% Reduced number of teeth 7.5% Skeletal muscle atrophy 7.5% Visual impairment 7.5% Abnormality of pelvic girdle bone morphology - Abnormality of the nail - Abnormality of the nasopharynx - Abnormality of the pinna - Abnormality of the posterior cranial fossa - Aplasia/Hypoplasia involving the metacarpal bones - Autosomal dominant inheritance - Camptodactyly - Clinodactyly - Clumsiness - Congenital fibrosis of extraocular muscles - Decreased testicular size - Depressed nasal bridge - Dysarthria - Dysdiadochokinesis - Dysphagia - Esotropia - Exotropia - Facial diplegia - Gait disturbance - High palate - Hypogonadotrophic hypogonadism - Hypoplasia of the brainstem - Infantile muscular hypotonia - Intellectual disability, mild - Lower limb undergrowth - Micropenis - Microphthalmia - Motor delay - Pes planus - Phenotypic variability - Poor coordination - Radial deviation of finger - Respiratory difficulties - Short neck - Short phalanx of finger - Split hand - Sporadic - Syndactyly - Talipes equinovarus - 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 Moebius syndrome inherited ? | Is Moebius syndrome inherited? Most cases of Moebius syndrome are not inherited and occur as isolated cases in individuals with no history of the condition in their family (sporadically). A small percentage of cases of Moebius syndrome have been familial (occurring in more than one individual in a family), but there has not been a consistent pattern of inheritance among all affected families. In some families the pattern has been suggestive of autosomal dominant inheritance, while in other families it has been suggestive of autosomal recessive or X-linked recessive inheritance. | |
What are the symptoms of Oculocutaneous albinism type 3 ? | What are the signs and symptoms of Oculocutaneous albinism type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nystagmus 90% Ocular albinism 90% Freckling 50% Strabismus 50% Cutaneous photosensitivity 7.5% Albinism - Autosomal recessive inheritance - Partial albinism - Red hair - 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 Rippling muscle disease, 1 ? | What are the signs and symptoms of Rippling muscle disease, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Rippling muscle disease, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - EMG abnormality - Exercise-induced muscle cramps - Exercise-induced muscle stiffness - Exercise-induced myalgia - Muscle hyperirritability - Muscle mounding - Percussion-induced rapid rolling muscle contractions (PIRC) - Skeletal muscle hypertrophy - 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 Fraser like syndrome ? | What are the signs and symptoms of Fraser like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fraser 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) Autosomal recessive inheritance - Contracture of the proximal interphalangeal joint of the 2nd finger - Ovarian cyst - Overlapping toe - Subglottic stenosis - 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 Seminoma ? | What are the signs and symptoms of Seminoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Seminoma. 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 - Cryptorchidism - Gonadal dysgenesis - Sporadic - Teratoma - 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 Kallmann syndrome 6 ? | What are the signs and symptoms of Kallmann syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anosmia 7.5% Autosomal dominant inheritance - Hypogonadotrophic hypogonadism - 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) Acrodermatitis enteropathica ? | Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that can either be inherited or acquired. Both forms lead to the inability to absorb zinc from the intestine. The lack of zinc can cause skin inflammation with a rash (pustular dermatitis) around the mouth and/or anus; diarrhea; and abnormal nails (nail dystrophy). Irritability and emotional disturbances can also occur. The inherited form is caused by mutations in the SLC39A4 gene and inherited in an autosomal recessive pattern. The acquired form can result from diets lacking the appropriate amount of zinc. Supplemental zinc usually eliminates the symptoms of acrodermatitis enteropathica. | |
What are the symptoms of Acrodermatitis enteropathica ? | What are the signs and symptoms of Acrodermatitis enteropathica? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrodermatitis enteropathica. 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 eyebrow 90% Alopecia 90% Cerebral cortical atrophy 90% Diarrhea 90% Dry skin 90% Malabsorption 90% Pustule 90% Short stature 90% Abnormality of the fingernails 50% Abnormality of the toenails 50% Cheilitis 50% Furrowed tongue 50% Glossitis 50% Inflammatory abnormality of the eye 50% Photophobia 50% Skin ulcer 50% Anorexia 7.5% Corneal erosion 7.5% Visual impairment 7.5% Weight loss 7.5% Alopecia of scalp - Ataxia - Autosomal recessive inheritance - Decreased taste sensation - Decreased testicular size - Decreased testosterone in males - Emotional lability - Failure to thrive - Hepatomegaly - Hypogonadism - Impaired T cell function - Infantile onset - Irritability - Lethargy - Low alkaline phosphatase - Paronychia - Poor appetite - Recurrent candida infections - Splenomegaly - Tremor - 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) Carcinoid syndrome ? | Carcinoid syndrome refers to a group of symptoms that are associated with carcinoid tumors (rare, slow-growing tumors that occur most frequently in the gastroinestinal tract or lungs). Affected people may experience skin flushing, abdominal pain, diarrhea, difficulty breathing, rapid heart rate, low blood pressure, skin lesions on the face (telangiectasias), and wheezing. In later stages, carcinoid syndrome may damage the heart valves, resulting in symptoms of congestive heart failure. The condition occurs when the carcinoid tumor secretes serotonin or other chemicals into the bloodstream. Only 10% of people with carcinoid tumors develop carcinoid syndrome; most have advanced stage carcinoid tumors that have spread to the liver. Treatment generally involves addressing the underlying carcinoid tumor and medications to alleviate symptoms. | |
What is (are) Felty's syndrome ? | Felty's syndrome is a rare, potentially serious disorder that is defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (splenomegaly) and a decreased white blood cell count (neutropenia), which causes repeated infections. Although some individuals with Felty's syndrome are asymptomatic, others can develop serious and life-threatening infections. Symptoms of Felty's syndrome, in addition to those associated with the three conditions stated above, may include fatigue, fever, weight loss, discoloration of patches of skin, mild hepatomegaly (enlarged liver), lymphadenopathy (swelling of lymph nodes), Sjgren syndrome, vasculitis, lower-extremity ulcers, and other findings. The exact cause is unknown, but several risk factors have been proposed, including autoimmunity. A few familial cases of the condition have been reported. Treatment typically focuses on controlling the underlying RA; immunosuppressive therapy for RA may improve neutropenia and splenomegaly. | |
What are the symptoms of Felty's syndrome ? | What are the signs and symptoms of Felty's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Felty's 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 neutrophils 90% Arthralgia 90% Arthritis 90% Autoimmunity 90% Limitation of joint mobility 90% Osteolysis 90% Abnormality of lymphocytes 50% Anemia 50% Lymphadenopathy 50% Otitis media 50% Recurrent pharyngitis 50% Sinusitis 50% Splenomegaly 50% Weight loss 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Bone marrow hypocellularity 7.5% Cellulitis 7.5% Generalized hyperpigmentation 7.5% Hepatomegaly 7.5% Inflammatory abnormality of the eye 7.5% Irregular hyperpigmentation 7.5% Lymphoma 7.5% Peripheral neuropathy 7.5% Pulmonary fibrosis 7.5% Recurrent urinary tract infections 7.5% Sepsis 7.5% Skin ulcer 7.5% Thrombocytopenia 7.5% Autosomal dominant inheritance - Neutropenia - Rheumatoid arthritis - 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 Felty's syndrome ? | What causes Felty's syndrome? The exact cause of Felty's syndrome is unknown, although several causes and risk factors have been proposed. Some experts believe it may be an autoimmune disorder, and that it may sometimes be inherited in an autosomal dominant manner. Other proposed risk factors have included: RF (rheumatoid factor) positivity - being positive for a test used to help diagnose rheumatoid arthritis Long-term rheumatoid arthritis Aggressive and erosive synovitis (inflammation of the tissue that lines the joints) HLA-DR4 positivity (having a specific gene for the immune system that is associated with RA) and DR4 homozygosity (having 2 identical copies of this gene) Extra-articular RA manifestations (symptoms that are not joint-related) | |
Is Felty's syndrome inherited ? | Is Felty's syndrome inherited? It has not been concluded that Felty's syndrome is an inherited condition; most individuals with Felty's syndrome have not had a history of the condition in their family. However, there have been a few reports of the condition appearing to be familial. Furthermore, although the condition itself may not be inherited, some of the risk factors associated with Felty's syndrome may have genetic components. One study found that a family history of rheumatoid arthritis was more common in patients with Felty's syndrome and that there was a strong association with HLA-DR4 (an immune system gene common in individuals with RA). The authors also stated that there was an increased frequency of another gene as well, suggesting that certain other immune system genes may interact with HLA-DR4 and contribute to individuals developing Felty's syndrome. In another report, the authors described a family in which 3 siblings had Felty's syndrome. All of the siblings shared a specific haplotype (a group of immune system genes that may be inherited together). The authors stated that they believe this supports the theory that multiple genetic factors are involved in family members being predisposed to Felty's syndrome. An earlier article described a family in which the mother and 2 of her 5 children had Felty's syndrome, which suggested autosomal dominant inheritance (which has not otherwise been reported). | |
What are the symptoms of Maturity-onset diabetes of the young, type 8 ? | What are the signs and symptoms of Maturity-onset diabetes of the young, type 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain - Abnormality of exocrine pancreas physiology - Autosomal dominant inheritance - Maturity-onset diabetes of the young - 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) Ledderhose disease ? | Ledderhose disease is a type of plantar fibromatosis characterized by thickening of the foot's deep connective tissue. While many individuals with Ledderhose disease do not experience symptoms, over time the condition may progress, causing considerable pain when walking. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have been reported in association with the development of this condition. Heredity is also a clear factor in many patients. Often, patients with Ledderhose disease also have other fibrosing conditions such as Dupuytren contracture, knuckle pads, or Peyronie disease. The exact prevalence of Ledderhose disease is unknown, with some studies stating it is rare, and others stating it is a common condition. | |
What are the symptoms of Ledderhose disease ? | What are the signs and symptoms of Ledderhose disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Ledderhose 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) Arthralgia 90% Lack of skin elasticity 90% Paresthesia 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 are the treatments for Ledderhose disease ? | How might Ledderhose disease be treated? There is little evidence regarding the effectiveness of specific treatment approaches for Ledderhose disease. Initial treatment approach may invovle regular (monthly or less often) glucocorticoid injection and soft shoe inserts with cutouts for the nodules. Surgery, such as selective fasciectomy or dermofasciectomy, has been used as treatment of people who do not respond to initial therapy. Recurrence following surgery is common. Collagenase injection is an additional therapy which has been used with variable sucess. Our search identified one case report describing the use of "upper lateral arm flaps" on the feet of two brother's who had multiple recurrences following other procedures. The reference for this article is provided below. Kan HJ, Hovius SE. Long-term follow-up of flaps for extensive Dupuytren's and Ledderhose disease in one family. J Plast Reconstr Aesthet Surg. 2012 December;65(12):1741-5. The International Dupyytren Society provides futher information on treatment options for Ledderhose disease at the following link: http://www.dupuytren-online.info/ledderhose_therapies.html We strongly recommend that you review this information with your healthcare providers. Only a healthcare provider can help you make decisions regarding which treatment approach may be best for you. | |
What are the symptoms of Microtia-Anotia ? | What are the signs and symptoms of Microtia-Anotia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microtia-Anotia. 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) Anotia - Holoprosencephaly - Microtia - 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) Herpes simplex encephalitis ? | Herpes simplex encephalitis is a rare neurological condition that is characterized by inflammation of the brain (encephalitis). People affected by this condition may experience a headache and fever for up to 5 days, followed by personality and behavioral changes; seizures; hallucinations; and altered levels of consciousness. Without early diagnosis and treatment, severe brain damage or even death may occur. Herpes simplex encephalitis is caused by a virus called the herpes simplex virus. Most cases are associated with herpes simplex virus type I (the cause of cold sores or fever blisters), although rare cases can be caused by herpes simplex virus type II (genital herpes). It is poorly understood why some people who are infected with herpes simplex virus develop herpes simplex encephalitis while others do not. Changes (mutations) in genes such as TLR3 and TRAF3 have been observed suggesting there may be a genetic component in some cases. Treatment consists of antiviral therapy. | |
What are the symptoms of Microduplication Xp11.22-p11.23 syndrome ? | What are the signs and symptoms of Microduplication Xp11.22-p11.23 syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microduplication Xp11.22-p11.23 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 chromosome segregation 90% Cognitive impairment 90% Neurological speech impairment 90% Abnormality of the voice 50% EEG abnormality 50% Obesity 50% Pes cavus 50% Pes planus 50% Precocious puberty 50% Seizures 50% Toe syndactyly 50% Autism 7.5% Absence seizures - Hoarse voice - Intellectual disability, borderline - Nasal speech - Phenotypic variability - Poor speech - Shyness - Syndactyly - 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 is (are) Galloway-Mowat syndrome ? | Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities. Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability. Other physical abnormalities may also be present. Galloway-Mowat syndrome may be caused by changes (mutations) in the WDR73 gene and is inherited in an autosomal recessive manner. Other, unknown genes may also be responsible. Affected children often do not survive beyond the first few years of life. Treatment is aimed at the specific signs and symptoms present. | |
What are the symptoms of Galloway-Mowat syndrome ? | What are the signs and symptoms of Galloway-Mowat syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Galloway-Mowat 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% Hypoplasia of the ear cartilage 90% Microcephaly 90% Nephropathy 90% Nephrotic syndrome 90% Proteinuria 90% Abnormality of neuronal migration 50% EEG abnormality 50% Intrauterine growth retardation 50% Macrotia 50% Premature birth 50% Seizures 50% Short stature 50% Abnormality of immune system physiology 7.5% Abnormality of the intervertebral disk 7.5% Abnormality of the teeth 7.5% Adducted thumb 7.5% Aqueductal stenosis 7.5% Camptodactyly of finger 7.5% Hemiplegia/hemiparesis 7.5% Hypertelorism 7.5% Hypertonia 7.5% Hypotelorism 7.5% Muscular hypotonia 7.5% Ataxia 5% Dandy-Walker malformation 5% Dystonia 5% Feeding difficulties 5% Spastic tetraplegia 5% Autosomal recessive inheritance - Camptodactyly - Cataract - Cerebellar atrophy - Cerebral atrophy - Diffuse mesangial sclerosis - Epicanthus - Flat occiput - Focal segmental glomerulosclerosis - Hand clenching - Hiatus hernia - High palate - Hyperreflexia - Hypoalbuminemia - Hypopigmentation of the skin - Hypoplasia of midface - Hypoplasia of the brainstem - Hypoplasia of the corpus callosum - Hypoplasia of the iris - Infantile onset - Intellectual disability - Joint contracture of the hand - Low-set ears - Microphthalmia - Narrow nasal ridge - Nystagmus - Oligohydramnios - Opacification of the corneal stroma - Optic atrophy - Pachygyria - Pes cavus - Prominent nose - Ptosis - Slender finger - Sloping forehead - Small for gestational age - Small nail - Strabismus - Talipes equinovarus - Wide 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. | |
Is Galloway-Mowat syndrome inherited ? | How is Galloway-Mowat syndrome inherited? Galloway-Mowat syndrome 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. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier | |
How to diagnose Galloway-Mowat syndrome ? | Is genetic testing available for Galloway-Mowat syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer clinical genetic testing for Galloway-Mowat syndrome. While it is known to be caused by mutations in the WDR73 gene, it has been suggested that other, unidentified genes may also be responsible. In some cases, carrier testing for unaffected relatives may only be available if the specific mutation in the affected family member is known. 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. | |
What is (are) Carnitine-acylcarnitine translocase deficiency ? | Carnitine-acylcarnitine translocase deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty transporter that disrupts carnitine's role in processing long-chain fatty acids. Carnitine-acylcarnitine translocase deficiency is a type of fatty acid oxidation disorder. There are two forms of carnitine-acylcarnitine translocase deficiency. The most common type happens in newborns. A milder, less common type happens in older infants and children. | |
What are the symptoms of Carnitine-acylcarnitine translocase deficiency ? | What are the signs and symptoms of Carnitine-acylcarnitine translocase deficiency? The signs of carnitine-acylcarnitine translocase deficiency usually begin within the first few hours after birth. Seizures, an irregular heartbeat (arrhythmia), and breathing problems are often the first signs of this disorder. This disorder may also result in an extremely low level of ketones, which are products of fat breakdown that are used for energy. Low blood sugar (hypoglycemia) is another major feature. Together these signs are called hypoketotic hypoglycemia, which can result in unconsciousness and seizures. Other signs that are often present include excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), heart abnormalities (cardiomyopathy), and muscle weakness. This disorder can cause sudden infant death. Children with the mild type of carnitine-acylcarnitine translocase deficiency usually start having symptoms before age three. They are at risk to have episodes of metabolic crisis, but usually do not have heart problems. The Human Phenotype Ontology provides the following list of signs and symptoms for Carnitine-acylcarnitine translocase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atrioventricular block - Autosomal recessive inheritance - Bradycardia - Cardiomyopathy - Cardiorespiratory arrest - Coma - Dicarboxylic aciduria - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Hepatomegaly - Hyperammonemia - Hypoglycemia - Hypotension - Irritability - Lethargy - Muscle weakness - Muscular hypotonia - Rhabdomyolysis - Seizures - Ventricular extrasystoles - Ventricular hypertrophy - Ventricular tachycardia - 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 Carnitine-acylcarnitine translocase deficiency ? | What causes carnitine-acylcarnitine translocase deficiency? Carnitine-acylcarnitine translocase deficiency occurs when an enzyme, called "carnitine-acylcarnitine translocase" (CAT), is either missing or not working properly. This enzyme's job is to help change certain fats in the food we eat into energy. It also helps to break down fat already stored in the body. Energy from fat keeps us going whenever our bodies run low of their main source of energy, a type of sugar called glucose. Our bodies rely on fat for energy when we don't eat for a stretch of time - like when we miss a meal or when we sleep. When the CAT normal enzyme is missing or not working well, the body cannot use fat for energy, and must rely solely on glucose. Although glucose is a good source of energy, there is a limited amount available. Once the glucose has been used up, the body tries to use fat without success. This leads to low blood sugar, called hypoglycemia, and to the build up of harmful substances in the blood. | |
Is Carnitine-acylcarnitine translocase deficiency inherited ? | How is carnitine-acylcarnitine inherited? Carnitine-acylcarnitine translocase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | |
How to diagnose Carnitine-acylcarnitine translocase deficiency ? | Is there genetic testing available for carnitine-acylcarnitine translocase deficiency? Genetic testing for carnitine-acylcarnitine translocase deficiency can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes in the pair of genes that cause carnitine-acylcarnitine translocase deficiency. In some affected children, both gene changes can be found. However, in other children, neither or only one of the two gene changes can be found, even though we know they are present. DNA testing is not necessary to diagnose carnitine-acylcarnitine translocase deficiency, however, it can be helpful for carrier testing or prenatal diagnosis. | |
What are the treatments for Carnitine-acylcarnitine translocase deficiency ? | How might carnitine-acylcarnitine translocase deficiency be treated? Although there is no standard treatment plan for carnitine-acylcarnitine translocase deficiency, there are treatments that have been found to be helpful in the management of this condition. Certain treatments may be helpful for some children but not others. When necessary, treatment are usually needed throughout life. Children with carnitine-acylcarnitine translocase deficiency should be followed by a metabolic doctor and a dietician in addition to their primary doctor. Aggressive treatment of hypoglycemia, hyperammonemia and prevention of lipolysis (the breakdown of fat stored in fat cells) in the newborn may be lifesaving. Infants and young children with carnitine-acylcarnitine translocase deficiency need to eat frequently to prevent a metabolic crisis. In general, it is often suggested that infants be fed every four to six hours, although some babies need to eat even more frequently than this. It is important that infants be fed during the night. They may need to be woken up to eat if they do not wake up on their own. Sometimes a low-fat, high carbohydrate diet is advised. Carbohydrates give the body many types of sugar that can be used as energy. In fact, for children needing this treatment, most food in the diet should be carbohydrates (bread, pasta, fruit, vegetables, etc.) and protein (lean meat and low-fat dairy food). Some children may be helped by taking L-carnitine. This is a safe and natural substance that helps body cells make energy. It also helps the body get rid of harmful wastes. However, supplementation with carnitine remains controversial, as its efficacy remains unknown. Medium Chain Triglyceride oil (MCT oil) is sometimes used as part of the food plan for people with carnitine-acylcarnitine translocase deficiency. This special oil has medium chain fatty acids that people with carnitine-acylcarnitine translocase deficiency can use in small amounts for energy. You may be instructed to call your child's doctor at the start of any illness. Children with carnitine-acylcarnitine translocase deficiency need to eat extra starchy food and drink more fluids during any illness (even if they may not feel hungry) or they could develop a metabolic crisis. | |
What are the symptoms of Autosomal recessive axonal neuropathy with neuromyotonia ? | What are the signs and symptoms of Autosomal recessive axonal neuropathy with neuromyotonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive axonal neuropathy with neuromyotonia. 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 foot - Autosomal recessive inheritance - Elevated serum creatine phosphokinase - Fasciculations - Foot dorsiflexor weakness - Hyperhidrosis - Muscle cramps - Muscle stiffness - Myokymia - Myotonia - Progressive - Sensory axonal neuropathy - Skeletal muscle atrophy - 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) Lung adenocarcinoma ? | Lung adenocarcinoma is a cancer that occurs due to abnormal and uncontrolled cell growth in the lungs. It is a subtype of non-small cell lung cancer that is often diagnosed in an outer area of the lung. Early lung cancers may not be associated with any signs and symptoms. As the condition progresses, affected people can experience chest pain, a persistent cough, fatigue, coughing up blood, loss of appetite, unexplained weight loss, shortness of breath, and/or wheezing. The underlying cause of lung adenocarcinoma is generally unknown; however, risk factors for developing a lung cancer include smoking; exposure to secondhand smoke and other toxic chemicals; a family history of lung cancer; previous radiation treatment to the chest or breast; and HIV infection. Treatment varies based on the severity of the condition, the associated signs and symptoms and the affected person's overall health. It may include a combination of surgery, radiation therapy, chemotherapy, targeted therapy, and/or watchful waiting. | |
What are the symptoms of Lung adenocarcinoma ? | What are the signs and symptoms of Lung adenocarcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Lung adenocarcinoma. 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) Alveolar cell carcinoma - Autosomal 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 is (are) Cramp-fasciculation syndrome ? | Cramp-fasciculation syndrome (CFS) is a rare condition of the muscles. Affected people have persistent muscle twitching (fasciculations) and cramping, which can lead to muscle discomfort, pain, or tiredness. Muscles in the leg are most commonly affected, although this condition may involve several parts of the body. Symptoms are thought to be due to overactivity of the associated nerves. In most cases, CFS occurs sporadically in people with no family history of the condition. There is limited information about the treatment of CFS, but certain medications have been reported as beneficial in individual cases. | |
What are the symptoms of Cramp-fasciculation syndrome ? | What are the signs and symptoms of cramp-fasciculation syndrome? Cramp-fasciculation syndrome (CFS) is primarily associated with severe muscle cramps and muscle twitches occurring in otherwise healthy people. These symptoms are often triggered by physical activity and may be relieved by stretching exercises and/or masssage. Muscles in the thighs and calves are most commonly affected, although other muscles (i.e. arm, chest) can also be involved. The severity of the condition varies significantly. In severe cases, CFS can interfere with daily activities (i.e. work, household chores) and quality of life. | |
What causes Cramp-fasciculation syndrome ? | What causes cramp-fasciculation syndrome? In many cases, the exact underlying cause of cramp-fasciculation syndrome (CFS) is unknown (idiopathic). In general, it is thought to be related to abnormal excitability (overactivity) of peripheral neurons. Some cases of CFS are associated with: Genetic disorders Autoimmune conditions Peripheral neuropathy Anterior-horn-cell disease Metabolic abnormalities | |
How to diagnose Cramp-fasciculation syndrome ? | How is cramp-fasciculation syndrome diagnosed? A diagnosis of cramp-fasciculation syndrome is generally based on the presence of characteristic signs and symptoms. Namely, a history of frequent muscle cramps, twitching, and pain (often worsened by exercise) without muscle weakness or wasting is suggestive of the condition. It is also important to rule out other conditions that may cause similar features. Electromyography (EMG) or repetitive nerve stimulation studies may also be done to assess the health of muscles and the nerves that control them. In repetitive nerve stimulation studies, muscle responses are recorded when the nerves are repetitively stimulated by small pulses of electricity. | |
What are the treatments for Cramp-fasciculation syndrome ? | How might cramp-fasciculation syndrome be treated? There is limited information in the medical literature about the treatment of cramp-fasciculation syndrome (CFS). Much of what is available describes individual cases. Some people with CFS improve without treatment. Treatment with carbamazepine, gabapentin, or pregabalin (medications that reduce the hyper-excitability of nerves) was described as helpful in improving symptoms in individual cases. Immunosuppressive therapy (e.g., prednisone) has been used to treat cases of CFS that did not respond to other treatments. For severe cases, additional treatment options may be considered. Decisions regarding treatment should be carefully considered and discussed with a knowledgeable healthcare provider. | |
What is (are) Familial hemiplegic migraine ? | 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. |
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