fenil210/Med-Lamma huggingface dataset:
How to diagnose Apert syndrome ?
How is Apert syndrome diagnosed? Is genetic testing needed to confirm the diagnosis? Apert syndrome and the other conditions associated with FGFR-related craniosynostosis were clinically defined long before the molecular basis of this group of disorders was discovered. Apert syndrome can be diagnosed primarily based on the following clinical findings: Turribrachycephalic skull shape (cone-shaped or towering skull) which is observable clinically and can be confirmed by skull radiograph or head CT examination; Characteristic facial features including moderate-to-severe underdevelopment of the midface, bulging and wide-set eyes, beaked nose, underdeveloped jaw and shallow eye sockets;  Variable hand and foot findings such as syndactyly of the fingers and toes and polydactyly. While clinical findings are suggestive of Apert syndrome, molecular genetic testing can help to confirm the diagnosis. Fibroblast growth factor receptor type 2 (FGFR2) sequence analysis is highly sensitive for Apert syndrome. More than 98% of cases are caused by a specific mutation in the 7th exon of the gene encoding FGFR2. The remaining cases are due to another specific mutation in or near exon 9 of FGFR2.  GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options. + GARD + Apert syndrome
What are the symptoms of Coxa vara, congenital ?
What are the signs and symptoms of Coxa vara, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Coxa vara, congenital. 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 - Coxa vara - 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 + Coxa vara, congenital
What is (are) Buschke Lowenstein tumor ?
Buschke Lowenstein tumor is a tumor that most commonly occurs near the penis or anus.  This tumor often looks like a large genital wart; it tends to grow slowly, but can sometimes grow very large and spread into surrounding tissues.  These tumors rarely spread to other parts of the body.  Treatment of these tumors begins with removal by surgery.  Chemotherapy and radiation therapy have also been shown to be effective treatments for this tumor type. + GARD + Buschke Lowenstein tumor
What are the symptoms of Spondyloepimetaphyseal dysplasia Shohat type ?
What are the signs and symptoms of Spondyloepimetaphyseal dysplasia Shohat type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia Shohat 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 bone mineral density 90% Abnormality of epiphysis morphology 90% Abnormality of the femur 90% Abnormality of the hip bone 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Genu varum 90% Hyperlordosis 90% Micromelia 90% Platyspondyly 90% Short neck 90% Short thorax 90% Thin vermilion border 90% Depressed nasal bridge 50% Gait disturbance 50% Hepatomegaly 50% Joint hypermobility 50% Round face 50% Splenomegaly 50% Wormian bones 7.5% Abdominal distention - Abnormality of the abdominal wall - Autosomal recessive inheritance - Bell-shaped thorax - Central vertebral hypoplasia - Coxa vara - Delayed epiphyseal ossification - Disproportionate short stature - Fibular overgrowth - Flared metaphysis - Joint laxity - Lumbar hyperlordosis - Metaphyseal irregularity - Narrow greater sacrosciatic notches - Narrow vertebral interpedicular distance - Short femoral neck - Short ribs - Spondyloepimetaphyseal dysplasia - Vertebral hypoplasia - 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 + Spondyloepimetaphyseal dysplasia Shohat type
What is (are) Noonan syndrome 4 ?
Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent. + GARD + Noonan syndrome 4
What are the symptoms of Noonan syndrome 4 ?
What are the signs and symptoms of Noonan syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 4. 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) Prolonged bleeding time 5% Autosomal dominant inheritance - Blue irides - Cryptorchidism - Cubitus valgus - Curly hair - Dental malocclusion - Depressed nasal bridge - Epicanthus - High anterior hairline - Hypertelorism - Hypertrophic cardiomyopathy - Low-set, posteriorly rotated ears - Macrocephaly - Pectus excavatum of inferior sternum - Ptosis - Pulmonic stenosis - Scoliosis - Short neck - Short stature - Sparse eyebrow - Thick lower lip vermilion - Ventricular septal defect - Webbed neck - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Noonan syndrome 4
What are the treatments for Noonan syndrome 4 ?
How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site. + GARD + Noonan syndrome 4
What are the symptoms of PAGOD syndrome ?
What are the signs and symptoms of PAGOD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PAGOD 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 pulmonary artery 90% Aplasia/Hypoplasia of the lungs 90% Abnormality of female internal genitalia 50% Abnormality of the testis 50% Congenital diaphragmatic hernia 50% Female pseudohermaphroditism 50% Hypoplastic left heart 50% Multicystic kidney dysplasia 50% Omphalocele 50% Renal hypoplasia/aplasia 50% Abnormality of neuronal migration 7.5% Abnormality of the aorta 7.5% Abnormality of the clavicle 7.5% Abnormality of the ribs 7.5% Abnormality of the spleen 7.5% Asymmetric growth 7.5% Encephalocele 7.5% Meningocele 7.5% Microcephaly 7.5% Optic atrophy 7.5% Short stature 7.5% Situs inversus totalis 7.5% Sudden cardiac death 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + PAGOD syndrome
What are the symptoms of Hepatic venoocclusive disease with immunodeficiency ?
What are the signs and symptoms of Hepatic venoocclusive disease with immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic venoocclusive disease with immunodeficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the liver - Absence of lymph node germinal center - Autosomal recessive inheritance - Endocardial fibrosis - IgG deficiency - Immunodeficiency - Microcephaly - 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 + Hepatic venoocclusive disease with immunodeficiency
What are the symptoms of Pheochromocytoma, childhood ?
What are the signs and symptoms of Pheochromocytoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma, childhood. 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 - Cafe-au-lait spot - Cerebral hemorrhage - Congenital cataract - Congestive heart failure - Elevated urinary norepinephrine - Episodic hypertension - Hemangioma - Hypercalcemia - Hyperhidrosis - Hypertensive retinopathy - Neoplasm - Pheochromocytoma - Positive regitine blocking test - Proteinuria - Renal artery stenosis - 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. + GARD + Pheochromocytoma, childhood
What are the symptoms of Charcot-Marie-Tooth disease type 2B2 ?
What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B2? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B2. 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) Adult onset - Areflexia - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Hyporeflexia - 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 + Charcot-Marie-Tooth disease type 2B2
What are the symptoms of Hypermanganesemia with dystonia polycythemia and cirrhosis ?
What are the signs and symptoms of Hypermanganesemia with dystonia polycythemia and cirrhosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypermanganesemia with dystonia polycythemia and cirrhosis. 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) Sensorimotor neuropathy 5% Spastic paraparesis 5% Autosomal recessive inheritance - Bradykinesia - Cirrhosis - Decreased liver function - Dysarthria - Dystonia - Elevated hepatic transaminases - Hepatomegaly - Parkinsonism - Polycythemia - Postural instability - Rigidity - Tremor - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Hypermanganesemia with dystonia polycythemia and cirrhosis
What is (are) Acromesomelic dysplasia ?
Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type + GARD + Acromesomelic dysplasia
What are the symptoms of Infantile Parkinsonism-dystonia ?
What are the signs and symptoms of Infantile Parkinsonism-dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile Parkinsonism-dystonia. 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 pyramidal signs - Autosomal recessive inheritance - Bradykinesia - Chorea - Constipation - Delayed gross motor development - Dyskinesia - Feeding difficulties - Gastroesophageal reflux - Hypertonia - Infantile onset - Limb dystonia - Morphological abnormality of the pyramidal tract - Muscular hypotonia of the trunk - Parkinsonism - Progressive - Rigidity - 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. + GARD + Infantile Parkinsonism-dystonia
What is (are) Pierson syndrome ?
Pierson syndrome is a very rare condition that mainly affects the kidneys and eyes. Signs and symptoms include congenital nephrotic syndrome and distinct ocular (eye) abnormalities, including microcoria (small pupils that are not responsive to light). Most affected children have early-onset, chronic renal failure; neurodevelopmental problems; and blindness. Hypotonia (poor muscle tone) and movement disorders have also been reported. Pierson syndrome is caused by changes (mutations) in the LAMB2 gene and is inherited in an autosomal recessive manner. The long-term outlook is poor; affected infants may not survive past the first weeks or months of life. + GARD + Pierson syndrome