fenil210/Med-Lamma huggingface dataset:
What is (are) Congenital mirror movement disorder ?
Congenital mirror movement disorder (CMM) is a rare condition that is characterized by mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side). Affected people generally develop these movements in infancy or early childhood, which usually persist throughout their life without any related signs or symptoms. In most cases, the involuntary movements are noticeable but less pronounced than the corresponding voluntary movements; however, the severity of symptoms can vary significantly, even among family members. CMM can be caused by changes (mutations) in the DCC or RAD51 genes and inherited in an autosomal dominant manner. In some families, the exact underlying cause of CMM is unknown. + GARD + Congenital mirror movement disorder
What are the symptoms of Congenital mirror movement disorder ?
What are the signs and symptoms of Congenital mirror movement disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital mirror movement disorder. 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) Incomplete penetrance 50% Autosomal dominant inheritance - Bimanual synkinesia - 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. + GARD + Congenital mirror movement disorder
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. + GARD + Medium-chain acyl-coenzyme A dehydrogenase deficiency
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. + GARD + Medium-chain acyl-coenzyme A dehydrogenase deficiency
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. + GARD + Medium-chain acyl-coenzyme A dehydrogenase deficiency
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. + GARD + Medium-chain acyl-coenzyme A dehydrogenase deficiency
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. + GARD + Medium-chain acyl-coenzyme A dehydrogenase deficiency
What are the symptoms of Geleophysic dwarfism ?
What are the signs and symptoms of Geleophysic dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Geleophysic dwarfism. 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 femur 90% Abnormality of the metacarpal bones 90% Anteverted nares 90% Brachydactyly syndrome 90% Cone-shaped epiphysis 90% Delayed skeletal maturation 90% Full cheeks 90% Hypertelorism 90% Limitation of joint mobility 90% Long philtrum 90% Round face 90% Short nose 90% Short stature 90% Short toe 90% Thin vermilion border 90% Abnormality of the aortic valve 50% Abnormality of the tricuspid valve 50% Abnormality of the voice 50% Atria septal defect 50% Blepharophimosis 50% Hearing impairment 50% Hepatomegaly 50% Intrauterine growth retardation 50% Micromelia 50% Mitral stenosis 50% Otitis media 50% Platyspondyly 50% Recurrent respiratory infections 50% Respiratory insufficiency 50% Round ear 50% Thickened skin 50% Abnormality of the larynx 7.5% Apnea 7.5% Cognitive impairment 7.5% Pulmonary hypertension 7.5% Tracheal stenosis 7.5% Aortic valve stenosis - Autosomal recessive inheritance - Camptodactyly of finger - Congestive heart failure - Coxa valga - High pitched voice - Hypoplasia of the capital femoral epiphysis - Irregular capital femoral epiphysis - Joint stiffness - J-shaped sella turcica - Lack of skin elasticity - Osteopenia - Pectus excavatum - Seizures - Short foot - Short long bone - Short metacarpals with rounded proximal ends - Short palm - Small nail - Smooth philtrum - Thickened helices - Tricuspid stenosis - Upslanted palpebral fissure - Wide mouth - Wrist flexion contracture - 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. + GARD + Geleophysic dwarfism
What is (are) Guttate psoriasis ?
Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body. It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immune system to sunlight and phototherapy. + GARD + Guttate psoriasis
What are the treatments for Guttate psoriasis ?
How might guttate psoriasis be treated? The goal of treatment is to control the symptoms and prevent secondary infections. Mild cases of guttate psoriasis are usually treated at home. The following may be recommended: Cortisone (anti-itch and anti-inflammatory) cream Dandruff shampoos (over-the-counter or prescription) Lotions that contain coal tar Moisturizers Prescription medicines containing vitamin D or vitamin A (retinoids) People with very severe guttate psoriasis may take medicines to suppress the body's immune system. These medicines include corticosteroids, cyclosporine, and methotrexate. Sunlight may help some symptoms go away. Care should be taken to avoid sunburn. Some people may choose to have phototherapy. Phototherapy is a medical procedure in which the skin is carefully exposed to ultraviolet light. Phototherapy may be given alone or after taking a drug that makes the skin more sensitive to light. More detailed information related to the treatment of psoriasis can be accessed through Medscape Reference. The National Psoriasis Foundation can also provide you with information on treatment. + GARD + Guttate psoriasis
What is (are) Reticulohistiocytoma ?
Reticulohistiocytoma (RH) is a rare benign lesion of the soft tissue. It belongs to a group of disorders called non-Langerhans cell histiocytosis and is a type of reticulohistiocytosis, all of which are types of histiocytosis. Histiocytosis is a condition in which there is rapid production (proliferation) of histiocytes (immune cells) in the skin or soft tissues. The stimulus that causes the immune system to react in RH is currently not well understood. RH present as a yellow to reddish-brown smooth surfaced, firm nodule or lesion on the trunk and/or extremities of the body. Historically, RH has been found in young adults, with a slightly higher incidence in males. RH typically resolve spontaneously over a period of months to years, are not associated with systemic disease, and do not otherwise affect health. Treatment involves surgical removal of the lesion. + GARD + Reticulohistiocytoma
What causes Reticulohistiocytoma ?
What causes reticulohistiocytoma? While it is known that reticulohistiocytoma (RH) develop due to a rapid production of immune cells (histiocytes) in the skin or soft tissues, the cause of this process is not currently known. + GARD + Reticulohistiocytoma
How to diagnose Reticulohistiocytoma ?
How is reticulohistiocytoma diagnosed? The diagnosis of reticulohistiocytoma (RH) is made based on clinical presentation, histology, and immunohistochemistry profile. RH occur in isolation and are typically described as small, yellow to reddish-born nodules. The lesions usually are slightly elevated from the surrounding skin. Detailed information on histology of reticulohistiocytoma is available through DermNet NZ, an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. There are several differential diagnoses for RH. It is important to distinguish RH from Rosai-Dorfman disease, juvenile xanthogranuloma, a variety of granulomatous conditions, and some malignant neoplasms, including histiocytic sarcoma, melanoma, and epithelioid sarcoma. Reticulohistiocytoma should also be distinguished from multicentric reticulohistiocytosis. + GARD + Reticulohistiocytoma
What are the treatments for Reticulohistiocytoma ?
How might reticulohistiocytoma be treated? Reticulohistiocytoma (RH) typically resolve spontaneously over a period of months to years; however, surgical excision usually results in a cure. + GARD + Reticulohistiocytoma
What are the symptoms of Mental retardation X-linked syndromic 11 ?
What are the signs and symptoms of Mental retardation X-linked syndromic 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked syndromic 11. 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 nasal morphology 90% Blepharophimosis 90% Coarse facial features 90% Cognitive impairment 90% Macroorchidism 90% Macrotia 90% Neurological speech impairment 90% Obesity 90% Palpebral edema 90% Prominent supraorbital ridges 90% Seizures 7.5% Bulbous nose - Intellectual disability, moderate - Periorbital fullness - Specific learning disability - Thick lower lip vermilion - 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. + GARD + Mental retardation X-linked syndromic 11
What is (are) Hereditary multiple osteochondromas ?
Hereditary multiple osteochondromas (HMO) (formerly called hereditary multiple exostoses) is a genetic condition in which people develop multiple benign (noncancerous) bone tumors that are covered by cartilage (called osteochondromas). The number and location of osteochondromas varies greatly among affected individuals. These tumors are not present at birth, but almost all affected people develop multiple osteochondromas by the time they are 12 years old. Once the bones stop growing, the development of new osteochondromas also usually stops. Osteochondromas can cause abnormal growth of the arms, hands, and legs, which can lead to uneven limb lengths (limb length discrepancy) and short stature. These tumors may cause pain, limit joint movement, and exert pressure on nerves, blood vessels, and surrounding tissues. Osteochondromas are typically benign; however, researchers estimate that people with HMO have about a 1% lifetime risk of these tumors becoming a cancerous osteochondrosarcoma. HMO is caused by mutations in the EXT1 and EXT2 genes and is inherited in an autosomal dominant pattern. + GARD + Hereditary multiple osteochondromas
What are the symptoms of Hereditary multiple osteochondromas ?
What are the signs and symptoms of Hereditary multiple osteochondromas? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary multiple osteochondromas. 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 humerus 90% Abnormality of the tibia 90% Abnormality of the femur 50% Abnormality of the metaphyses 50% Abnormality of the teeth 50% Abnormality of the ulna 50% Anteverted nares 50% Aplasia/Hypoplasia of the radius 50% Aseptic necrosis 50% Bone pain 50% Chondrocalcinosis 50% Cranial nerve paralysis 50% Exostoses 50% Genu valgum 50% Madelung deformity 50% Micromelia 50% Muscle weakness 50% Short stature 50% Abnormal pyramidal signs 7.5% Abnormality of pelvic girdle bone morphology 7.5% Abnormality of the pericardium 7.5% Aneurysm 7.5% Elbow dislocation 7.5% Hemiplegia/hemiparesis 7.5% Osteoarthritis 7.5% Osteolysis 7.5% Recurrent fractures 7.5% Scoliosis 7.5% Synostosis of joints 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. + GARD + Hereditary multiple osteochondromas
Is Hereditary multiple osteochondromas inherited ?
How is hereditary multiple osteochondromas inherited? HMO is caused by mutations in the EXT1 and EXT2 genes. It is inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause this condition. In most cases, an affected individual inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the condition in their family. Most affected individuals (96%) that have inherited a gene mutation from their parent show signs and symptoms of this condition. However, the family history may appear negative because of the failure to recognize the disorder in family members and/or reduced penetrance. Reports have suggested that some females may not show clinical features of HMO but still have the gene mutation that causes this condition. + GARD + Hereditary multiple osteochondromas
How to diagnose Hereditary multiple osteochondromas ?
Is genetic testing available for hereditary multiple osteochondromas? GeneTests lists the names of laboratories that are performing genetic testing for hereditary multiple osteochondromas. To view the contact information for the clinical laboratories conducting testing for the EXT1 gene, click here.  To view the contact information for the clinical laboratories conducting testing for the EXT2 gene, click here. Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  Below, we provide a list of online resources that can assist you in locating a genetics professional near you. How might malignant transformation in hereditary multiple exostoses (HME) be diagnosed? Surface irregularities and unorganized chalk deposits with light areas in the middle of the tumor and cartilage cap may be seen on a bone scan, ultrasound or preferably an MRI. However the diagnosis of chondrosarcoma can only be confirmed by a bone biopsy. What are the signs and symptoms of malignant transformation in hereditary multiple exostoses (HME)? A doctor may become suspicious of a malignant transformation if there is an increase in the size of the tumor in adults when bone growth is already complete. In addition, cancer should be suspected if the thickness of the cartilaginous cap of the osteochondroma is over 1-2 centimeters (normally, after bone growth is complete, the cap is only a few millimeters thick). Other signs of a malignant transformation may include bone pain, temporary loss of sensory or motor function due to compression of a nerve (neurapraxia) or pressure related symptoms in nearby organs. Is screening recommended for malignant transformation in hereditary multiple exostoses (HME)? At present, medical researchers agree that more studies need to be performed to determine the best screening protocols for those with HME, including the study of benefit/cost/risk. However a compelling study was published in 2014 by Czajka and DiCaprio which compares the screening of malignant transformation in people with HME to the screening of breast and cervical cancer in women. The authors conclude that screening should be offered to individuals with HME over the age of 16 (or when bone growth has been completed). They propose screening should include a thorough clinical examination and a full body MRI every two years. If an MRI is not possible than a bone scan be performed, followed by an ultrasound of the cartilage cap of any suspicious findings. The Czajka and DiCaprio further recommend that individuals with HME should be made aware of warning signs of malignant transformation and taught self examination techniques. + GARD + Hereditary multiple osteochondromas