Aicardi Syndrome 

Article describes Aicardi syndrome, its symptoms, diagnosis, and treatment. Aicardi syndrome callosal agenesis ocular abnormalities infantile spasms

What Is a Nail Fungal Infection? What Causes Nail Fungus Infections? 

Also known as onychomycosis and tinea unguium, nail fungal infections are the most common diseases of the nails, making up about 50% of nail abnormalities. Both fingernails an Dermatology news, medical news, health news, medical headlines, healthcare news, health articles, medicine articles, welfare, living

Narcolepsy Symptoms, Causes, and Treatment by MedicineNet.com 

Learn about narcolepsy symptoms like excessive daytime sleepiness, cataplexy, distorted perceptions, hallucinations, sleep paralysis, and more. Treatment is generally with drug and behavioral therapies." narcolepsy, hypocretin neurons, rem sleep, hypocretins, excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, sleep paralysis, disturbed nocturnal sleep, automatic behavior, sleeplessness, insomnia, falling, work, working, eds, hypnopompic, abnormalities, Epworth Sleepiness Scale, sleep log, logs, diary, diaries, test, tests, laboratory, study, studies, periodic limb movements, sleep apnea syndrome, International Classification of Sleep Disorders, Human Leukocyte Antigen, hla, medications, medication, drug, drugs, pill, pills, alerting, Amphetamines, Amphetamine, Anticataplectic, cause, causes, symptom, symptoms, diagnosis, diagnose, treatment, treated, prognosis, future, outlook, exam, exams"

SADS Foundation :: Sudden Arrhythmia Death Syndromes Foundation - Home 

The SADS (Sudden Arrhythmia Death Syndromes) Foundation seeks to save the lives and support the families of children young adults who are genetically predisposed to sudden death due to heart rhythm abnormalities." Sudden Arrhythmia Death Syndromes Foundation, SADS, sudden death, sudden cardiac death, genetic testing, youth, family, support, cardiac arrest, Long QT Syndrome, LQTS, Brugada, HCM, CPVT, ARVD, heart, rhythm, abnormalities, awareness, research, Utah, Salt Lake City, syncope, fainting, genetic"

Neurofibromatosis 

Neurofibromatosis (NF) is a genetic disorder that causes tumors to grow on nerve tissue, producing skin and bone abnormalities. Learn more about NF, including its diagnosis, and treatment. neurofibromatosis, nf, nf1, nf2, nfI, nfII, neurofibromas, genetic disorders, genetic testing, nerves, tumors, neurology, neurocutaneous, von recklinghausen, bilateral acoustic neurofibromatosis, auditory nerves, hearing, deafness, deaf, cafe au lait spots, lisch nodules, scoliosis, optic gliomas, skeletal abnormalities, head circumference, audiometry, amniocentesis, amnios, auditory brainstem implant, learning disabilities

Fanconi Anemia - My Child Has - Children s Hospital Boston 

Fanconi Anemia, Fanconi, Anemia, FA, bone marrow, physical abnormalities, cancer, genes, genetic, FA gene, children and Fanconi Anemia, kids and Fanconi Anemia, Fanconi Anemia in children, Fanconi Anemia in kids, Fanconi Anemia in infants, Children s Hospital Boston

Epidermolysis bullosa simplex - Genetics Home Reference 

epidermolysis bullosa simplex, Epidermolysis Bullosa, Skin Abnormalities, Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Skin Diseases, Genetic, Genetic Diseases, Inborn, Skin Diseases, Skin and Connective Tissue Diseases, Skin Diseases, Vesiculobullous, Epidermolysis Bullosa Simplex, Skin, hair, and nails, EBS-DM, EBS-K, EBS-MP, EBS-WC, hepatiform, KRT14, KRT14 gene, KRT5, KRT5 gene, PLEC1, PLEC1 gene, Epidermolysis Bullosa Simplex Generalized, Epidermolysis Bullosa Simplex Localized, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine

Trisomy - Wikipedia, the free encyclopedia 

Trisomy, Chromosomal abnormalities, 2007, 22q11.2 deletion syndrome, 49 XXXXY syndrome, Aneuploidy, Angelman syndrome, Autosomal, Autosome, Burkitt s lymphoma, Cat eye syndrome"

eMedicine - Aicardi Syndrome : Article by Marc P DiFazio 

In 1965, a French neurologist, Dr Jean Dennis Aicardi, described 8 children with infantile spasm-in-flexion, agenesis of Aicardi syndrome, callosal agenesis, ocular abnormalities, syndrome of spasm-in-flexion, Aicardi s syndrome, brain

Alpha-1 antitrypsin deficiency - Genetics Home Reference 

alpha-1 antitrypsin deficiency, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Subcutaneous Emphysema, Emphysema, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Liver Diseases, Digestive System Diseases, Lung Diseases, Respiratory Tract Diseases, alpha 1-Antitrypsin Deficiency, Digestive system, Lungs and breathing, chronic obstructive pulmonary disease, COPD, serpinopathy, SERPINA1, SERPINA1 gene, AAT, AATD, alpha-1 protease inhibitor deficiency, alpha-1 related emphysema, genetic emphysema, hereditary pulmonary emphysema, inherited emphysema, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling

Hypothyroidism - secondary 

Secondary hypothyroidism involves decreased activity of the thyroid caused by failure of the pituitary gland.
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Ataxia-telangiectasia - Genetics Home Reference 

ataxia-telangiectasia, Spinocerebellar Ataxias, Cerebellar Ataxia, Cerebellar Diseases, Brain Diseases, Central Nervous System Diseases, Nervous System Diseases, Neurocutaneous Syndromes, Ataxia, Dyskinesias, Neurologic Manifestations, Telangiectasis, Vascular Diseases, Cardiovascular Diseases, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA Repair-Deficiency Disorders, Metabolic Diseases, Nutritional and Metabolic Diseases, Immunologic Deficiency Syndromes, Immune System Diseases, Ataxia Telangiectasia, Blood/lymphatic system, Brain and nervous system, Immune system, Skin, hair, and nails, chromosomal breakage, neurodegenerative, ATM, ATM gene, A-T, Ataxia Telangiectasia Syndrome, ATM, Louis-Bar syndrome, Telangiectasia cerebello-oculocutaneous, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary

eMedicine - Aicardi Syndrome : Article by Marc P DiFazio 

In 1965, a French neurologist, Dr Jean Dennis Aicardi, described 8 children with infantile spasm-in-flexion, agenesis of Aicardi syndrome, callosal agenesis, ocular abnormalities, syndrome of spasm-in-flexion, Aicardi s syndrome, brain

Niemann-Pick disease - Genetics Home Reference 

Niemann-Pick disease, Sphingolipidoses, Lysosomal Storage Diseases, Nervous System, Brain Diseases, Metabolic, Inborn, Brain Diseases, Metabolic, Brain Diseases, Central Nervous System Diseases, Nervous System Diseases, Histiocytosis, Non-Langerhans-Cell, Histiocytosis, Reticuloendotheliosis, Lymphatic Diseases, Hemic and Lymphatic Diseases, Metabolism, Inborn Errors, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipoidosis, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Metabolic Diseases, Nutritional and Metabolic Diseases, Niemann-Pick Diseases, Bones, muscles, and connective tissues, Brain and nervous system, Digestive system, Lungs and breathing, lipid metabolism disorder, lysosomal storage disease, lysosomal storage disorder, NPC1, NPC1 gene, NPC2, NPC2 gene, SMPD1, SMPD1 gene, Classical Niemann-Pick Disease, DAF syndrome, lipoid histiocytosis (classical phosphatide), Neuronal Cholesterol Lipidosis, NPD, Ophthalmoplegia Supraoptic Vertical, Sphingomyelinase deficiency

Maple syrup urine disease - Genetics Home Reference 

maple syrup urine disease, Brain Diseases, Metabolic, Inborn, Brain Diseases, Metabolic, Brain Diseases, Central Nervous System Diseases, Nervous System Diseases, Amino Acid Metabolism, Inborn Errors, Metabolism, Inborn Errors, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Metabolic Diseases, Nutritional and Metabolic Diseases, Maple Syrup Urine Disease, Brain and nervous system, Food, nutrition, and metabolism, amino acid metabolism, newborn screening, organic acidemia, BCKDHA, BCKDHA gene, BCKDHB, BCKDHB gene, DBT, DBT gene, DLD, DLD gene, BCKD deficiency, Branched-chain alpha-keto acid dehydrogenase deficiency, Branched-Chain Ketoaciduria, Ketoacidemia, MSUD, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine

Galactosemia - Genetics Home Reference 

galactosemia, Brain Diseases, Metabolic, Inborn, Brain Diseases, Metabolic, Brain Diseases, Central Nervous System Diseases, Nervous System Diseases, Metabolism, Inborn Errors, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Carbohydrate Metabolism, Inborn Errors, Metabolic Diseases, Nutritional and Metabolic Diseases, Galactosemias, Brain and nervous system, Digestive system, Eyes and vision, Food, nutrition, and metabolism, Newborn screening, GALE, GALE gene, GALK1, GALK1 gene, GALT, GALT gene, Classic Galactosemia, Epimerase deficiency galactosemia, Galactokinase Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease, Galactose epimerase deficiency, GALT Deficiency, UDP-Galactose-4-Epimerase Deficiency Disease, UDPglucose 4-Epimerase Deficiency Disease, UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency, UTP Hexose-1-Phosphate Uridylyltransferase Deficiency, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems

Rett syndrome - Genetics Home Reference 

Rett syndrome, Heredodegenerative Disorders, Nervous System, Neurodegenerative Diseases, Nervous System Diseases, Mental Retardation, X-Linked, Mental Retardation, Neurobehavioral Manifestations, Neurologic Manifestations, Genetic Diseases, X-Linked, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Child Development Disorders, Pervasive, Mental Disorders Diagnosed in Childhood, Mental Disorders, Rett Syndrome, Brain and nervous system, Mental health and behavior, 47, XYY, autism spectrum disorder, Hanefeld variant, preserved speech variant, CDKL5, CDKL5 gene, MECP2, MECP2 gene, Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome, Cerebroatrophic Hyperammonemia, Rett s Syndrome, RTS, RTT, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health

Tetralogy of Fallot, Cincinnati Children s Hospital Medical Center 

Tetralogy of Fallot signs, symptoms, diagnosis, treatment, results, provided in the Heart Encyclopedia by Cincinnati Children s Hospital Medical Center Heart Center staff." tetralogy fallot falott fallott falot explanation signs symptoms diagnosis treatments results tof pediatric cardiac cardiology cardiothoracic anomaly heart defects cincinnati children s hospital medical center childrens pulmonary stenosis ventricular septal vsd overriding aorta aortic valve right ventricular hypertrophy thickening atrial asd abnormalities coronary arteries shunting newborn babies cyanotic blue cyanosis arterial oxygen birth ductus closes murmur spell infant knees lung disease breathing hyperoxia aortopulmonary collateral surgical repair replacement complication ecgs echocardiography teenage tetraology 3333 burnet avenue ohio 45229-3039 513-636-4200 1-800-344-2462 tty 513-636-4900"

eMedicine - Tetralogy of Fallot : Article by Mark Spektor 

Tetralogy of Fallot (TOF) is a complex of anatomic abnormalities arising from the maldevelopment of the right ventricula TOF, Fallot tetrad, Fallot s tetrad, congenital heart disease, tetralogy of Fallot, maldevelopment of right ventric

SADS Foundation :: Sudden Arrhythmia Death Syndromes Foundation - Home 

The SADS (Sudden Arrhythmia Death Syndromes) Foundation seeks to save the lives and support the families of children young adults who are genetically predisposed to sudden death due to heart rhythm abnormalities." Sudden Arrhythmia Death Syndromes Foundation, SADS, sudden death, sudden cardiac death, genetic testing, youth, family, support, cardiac arrest, Long QT Syndrome, LQTS, Brugada, HCM, CPVT, ARVD, heart, rhythm, abnormalities, awareness, research, Utah, Salt Lake City, syncope, fainting, genetic"

Heart Murmurs and Your Child 

A heart murmur diagnosis is extremely common. Most murmurs are not a cause for concern and do not affect a child s health. heart murmurs, murmur, heart murmur, my child has a heart murmur, my child has heart murmurs, heart defect, heart defects, heart problem, heart problems, heart, congenital heart defects, heart abnormalities, common heart defects, innocent murmurs, heart surgery, my baby s heart, my child s heart, heart chambers, heart valves, pulmonary valves, arteries, blood vessels, stethoscopes, pediatricians, heart doctors, pulmonologists, pediatric cardiologists, cardiology, chest x-ray, ecg, ekg, echocardiogram, pulmonary stenosis, atrial septal defect, ventricular septal defect, aortic stenosis, pulmonary stenosis, hole in the heart, march of dimes, congenital birth defects, congenital birth defect, neonatal, neonatology, cardiac, baby was born with a heart problem

Atrial Fibrillation 

What is atrial fibrillation? Atrial fibrillation (say “A-tree-uhl fih-bruh-LAY-shun”) is an irregular heart rhythm (arrhythmia ) that starts in the upper parts (atria) of the heart. Normally, the heart beats in a strong, steady rhythm. In atrial fibr Heart and circulation, Heart problems, Abnormal Heart Rhythms, abnormal heartbeat, AF, afib, Arrhythmia, cansancio, Cardiac Arrhythmia, cardiac disease, cardiac disorder, chest pressure, chest tightness, cocaína, cocaine, dizziness, dizzy, dyspnea, emboli, embolus, enfermedad del corazón, enfermedades del corazón, exercise intolerance, falta de aire, falta de respiración, fatiga, fatigability, Fatigue, fatigued, frecuenia cardíaca irregular, Heart arrhythmia, Heart Arrhythmias, Heart disease, heart problems, Heart Rhythm Abnormalities, heart rhythm problems, Irregular heartbeat, latidos irregulares, light-headedness, lightheadedness, mareada, mareado, mareo, mareos, palpitación del corazón, palpitaciones del corazón, palpitations, problema del corazón, problemas del corazón, pulso irregular, shortness of breath, shortness of breath with exercise, SOB, tired, tiredness, whirling feeling, AF, afib, AF, afib, AF, afib, AF, afib, AF, afib, AF, afib, AF, afib, C658, H580, S885, U020, Y374

Williams syndrome - Wikipedia, the free encyclopedia 

Williams syndrome, Articles with unsourced statements since July 2007, Chromosomal abnormalities, 2007, 22q11.2 deletion syndrome, 49 XXXXY syndrome, Absolute pitch, Aneuploidy, Angelman syndrome, Aortic valve stenosis, Argininosuccinate lyase"

Waardenburg syndrome - Genetics Home Reference 

Waardenburg syndrome, Abnormalities, Multiple, Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Waardenburg s Syndrome, Ear, nose, and throat, Eyes and vision, Skin, hair, and nails, Klein-Waardenburg syndrome, Waardenburg-Shah syndrome, EDN3, EDN3 gene, EDNRB, EDNRB gene, MITF, MITF gene, PAX3, PAX3 gene, SNAI2, SNAI2 gene, SOX10, SOX10 gene, Waardenburg s Syndrome, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine, Disease and Gene Association, congenital, heritable disorders, inherited disorders, heritable diseases, inherited diseases, family disorders

Aneuploidy - Wikipedia, the free encyclopedia 

Aneuploidy, Chromosomal abnormalities, 2007, 22q11.2 deletion syndrome, 49, XXXXX, 49 XXXXY syndrome, Acute myeloid leukemia, Amniocentesis, Angelman syndrome, Autosomal, Autosomes"

Edwards syndrome - Wikipedia, the free encyclopedia 

Edwards syndrome, Chromosomal abnormalities, 2008, 22q11.2 deletion syndrome, 49 XXXXY syndrome, Absent radius, Aneuploidy, Angelman syndrome, Apnea, Arthrogryposis, Atrial septal defect"

Trisomy - Wikipedia, the free encyclopedia 

Trisomy, Chromosomal abnormalities, 2007, 22q11.2 deletion syndrome, 49 XXXXY syndrome, Aneuploidy, Angelman syndrome, Autosomal, Autosome, Burkitt's lymphoma, Cat eye syndrome"

Treacher Collins syndrome - Genetics Home Reference 

Treacher Collins syndrome, Craniofacial Dysostosis, Dysostoses, Bone Diseases, Developmental, Bone Diseases, Musculoskeletal Diseases, Craniofacial Abnormalities, Musculoskeletal Abnormalities, Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Mandibulofacial Dysostosis, Bones, muscles, and connective tissues, Ear, nose, and throat, Eyes and vision, Mouth and teeth, TCOF1, TCOF1 gene, Franceschetti-Zwahlen-Klein syndrome, Mandibulofacial dysostosis (MFD1), Treacher Collins-Franceschetti syndrome, zygoauromandibular dysplasia, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history

Tay-Sachs disease - Genetics Home Reference 

Tay-Sachs disease, Gangliosidoses GM2, Gangliosidoses, Sphingolipidoses, Lysosomal Storage Diseases, Nervous System, Brain Diseases, Metabolic, Inborn, Brain Diseases, Metabolic, Brain Diseases, Central Nervous System Diseases, Nervous System Diseases, Metabolism, Inborn Errors, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipoidosis, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Metabolic Diseases, Nutritional and Metabolic Diseases, Tay-Sachs Disease, Brain and nervous system, Food, nutrition, and metabolism, B1 variant, glycosphingolipid storage disease, HEXA, HEXA gene, B variant GM2 gangliosidosis, GM2 gangliosidosis type 1, HexA deficiency, Hexosaminidase A deficiency, Hexosaminidase alpha-subunit deficiency (variant B), Sphingolipidosis Tay-Sachs, TSD, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics

Smith-Magenis syndrome - wikidoc 

Smith-Magenis syndrome, Chromosomal abnormalities, 22q11.2 deletion syndrome, 49 XXXXY syndrome, Aneuploidy, Angelman syndrome, Attention deficit/hyperactivity disorder, Attention deficit disorder, Autism, Autosomal, Burkitt s lymphoma"