Albinism 

Some kids are born without enough pigment to protect their skin and eyes. Find out more in this article for kids. albinism, albinos, pink eyes, red eyes, white hair, melanin, skin, eyes, hair, genetic codes, genes, pigment, pigmentation, type 1, pink eyes, poor vision, type 2, Hermansky-Pudlak syndromes, HPS, ocular albinism, vision problems, sun exposure, photophobia, hypopigmentation, genetics, general pediatrics, NOAH

Aicardi Syndrome 

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

Adrenoleukodystrophy 

Genes and Disease provides an introduction to the relationship between genetic factors and human disease with a summary of ~60 genetic diseases with links to related databases and organizations. National Library of Medicine (US), NCBI. national center for biotechnology information, ncbi, national library of medicine, nlm, national institutes of health, nih, bookshelf, free access, book, online, textbook, map viewer, entrez genomes, organism, chromosome map, sequence data, genetic factors, human disease

AICARDI SYNDROME: Contact a Family - for families with disabled children: information 

Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. medical conditions information, chromosomes disorders, medical symptoms, a list of inherited diseases, medical dictionary, pregnancy, medical info, health, parent, medical information, human genetics, rare diseases, kids, metabolic syndrome, information about medical conditions, children physical disabilities, medical diagnosis, special education inclusion, grants for disabled children, health information, statement of special educational needs uk, inherited genetic diseases, disabled children, children with disabilities, disabled, children, medical condition, medical, medicine, disable, disability, illness, life-threatening, paediatric, pediatric, birth, parents, child, sibling, caring, carer, care, support, self-help, therapy, Contact a Family Directory, CaF, contact, family, families, unique, special needs, Special Educational Needs, SEN, inclusion, diagnosis, undiagnosed, diagnose, hospital, hospice, doctor, patient, condition, genetic condition, genes, genetic, defect, inherited, inheritance, hereditary, autosomal, dominant, recessive, x-linked, mitochondrial, metabolic condition, metabolic, chromosome disorder, chromosome, disorder, linking, support groups, development, mutual support, network, welfare, trust, foundation, not-for-profit, voluntary sector, donation, donate, fund, respite care, respite, mental, physical, handicap, handicapped, help, advice, City Road, London, physical disabilities

Polycysic Kidney Disease - Your Genes, Your Health - DNA Learning Center - Cold Sprin 

Your Genes, Your Health, DNA Learning Center s multimedia guide to genetic, inherited disorders: Fragile X syndrome, Marfan syndrome, Hemophilia, cystic fibrosis, Duchenne muscular dystrophy Becker muscular dystrophy, phenylketonuria, PKU, huntington disease, neurofibromatosis, NF, sickle cell, hemochromatosis, Tay-Sachs disease, beta-thalassemia, thalassemia, down syndrome, Alzheimer disease, polycystic kidney disease, genetic disorder, inheritance, autosomal recessive, autosomal dominant, sex-linked disorder Fragile X syndrome, Marfan syndrome, Hemophilia, cyBecker muscular dystrophy, phenylketonuria, PKU, huntington disease, neurofibromatosis, NF, sickle cell, hemochromatosis, Tay-Sachs disease, beta-thalassemia, thalassemia, down syndrome, polycystic kidney disease, genetic disorder, mutation, genetic mutation, inheritance, autosomal recessive, autosomal dominant, PKD1, chromosome 16, PKD2, chromosome 4, cysts, dialysis, kidney transplants

Thrombocytopenia Absent Radius Syndrome 

Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital). It is characterized by low levels of platelets in the blood (thrombocytopenia) and absence (aplasia) of the long, thin bones of the forearms (radi Blood and lymph, Bones, joints, and muscles, Genes and chromosomes, Genetic conditions, Radial Aplasia-Amegakaryocytic Thrombocytopenia, Radial Aplasia-Thrombocytopenia Syndrome, TAR Syndrome, Thrombocytopenia-Absent Radii Syndrome, Birth Defect, birth defects, congenital anomaly, congenital defect, congenital disease, congenital disorder, genetic condition, genetic counseling, genetic counselling, genetic defect, genetic disease, genetic disorder, hereditary disorder, inherited diseases, skeletal dysplasia, thrombocytopenia-absent radius (TAR) syndrome

Aicardi Syndrome 

Aicardi Syndrome Aicardi, Aicardi Syndrome, aicardi, aicardi syndrom, aicardi-syndrome, aicardis, aicardi s, ascardi, aicardia, acardi, acardia, acairdi, aicardisyndrome, seizures, infantile spasms, agenesis, agenisis, corpus colosum, corpus calosum, corpus callosum, corpus collosum, chorioretinal lacunae, chorio, retina, retinal, blindness, hydrocephalus, micropthalmia, x-linked chromosome mutation, mental retardation, microcephaly, porencephalic cysts, porencephalic

Sickle Cell Disease - Your Genes, Your Health - DNA Learning Center - Cold Spring Har 

Your Genes, Your Health, DNA Learning Center s multimedia guide to genetic, inherited disorders: Fragile X syndrome, Marfan syndrome, Hemophilia, cystic fibrosis, Duchenne muscular dystrophy Becker muscular dystrophy, phenylketonuria, PKU, huntington disease, neurofibromatosis, NF, sickle cell, hemochromatosis, Tay-Sachs disease, beta-thalassemia, thalassemia, down syndrome, Alzheimer disease, polycystic kidney disease, genetic disorder, inheritance, autosomal recessive, autosomal dominant, sex-linked disorder Fragile X syndrome, Marfan syndrome, Hemophilia, cyBecker muscular dystrophy, phenylketonuria, PKU, huntington disease, neurofibromatosis, NF, sickle cell, hemochromatosis, Tay-Sachs disease, beta-thalassemia, thalassemia, down syndrome, sickle cell, autosomal recessive, chromosome 11, genetic disorder, mutation, genetic mutation, beta globin, hemoglobin, malaria, red blood cell

Homepage - Leukodystrophy research - LEUKONET.eu 

German Leukodystrophy Network is a network of experts that is dedicated to the research of leukodystrophies" LEUKONET, leukodystrophy, research, metachromatic, Krabbe-disease, globoid-Alexander-disease, Canavan-disease, adrenoleukodystrophy, Pelizaeus-Merzbacher-disease, myelin, myelination, demyelination, pathogenesis"

Niemann Pick Disease 

Niemann-Pick disease (NPD) is a group of rare inherited disorders of fat metabolism. At least five types of Niemann-Pick disease have been identified (NPD types A, B, C, D, and E). Symptoms of types A and B occur as a result of a deficiency of the en Blood and lymph, Brain and nerves, Genes and chromosomes, Genetic conditions, DAF syndrome, juvenile dystonic lipidosis, lipid histiocytosis, lipidosis, sphingomyelin, NPD, sphingomyelinase deficiency, brain disorder, disorders affecting metabolism, genetic condition, genetic counseling, genetic counselling, genetic disease, genetic disorder, hereditary disorder, inborn error of metabolism, inherited diseases, metabolic disorders, Niemann-Pick disease

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

Adrenoleukodystrophy 

Genes and disease provides short descriptions of inherited disorders. It is hosted by the National Center for Biotechnology Information (NCBI), a division of the National Library of Medicine (NLM) at the National Institutes of Health (NIH). genetic disease, genetic disorder, inherited disease, metabolism, adrenoleukodystrophy, ALD, transporter protein, transport mechanisms, Lorenzo s oil

Achondroplasia - Wikipedia, the free encyclopedia 

Achondroplasia, Congenital malformations and deformations of musculoskeletal system, Diseases of the musculoskeletal system and connective tissue, 2007, 2008, Abdominal wall defect, Acheiropodia, Achondrogenesis, Amelia (birth defect), Antley-Bixler syndrome, Arachnodactyly"

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

Achondroplasia - Wikipedia, the free encyclopedia 

Achondroplasia, Congenital malformations and deformations of musculoskeletal system, Diseases of the musculoskeletal system and connective tissue, 2007, 2008, Abdominal wall defect, Acheiropodia, Achondrogenesis, Amelia (birth defect), Antley-Bixler syndrome, Arachnodactyly"

What s Color Blindness? 

You might think being color-blind means you can t see any colors. But that s not true. Find out more in this article for kids. color blindness, color-blind, colors, cones, rods, eyes, retina, inherited, genes, more common in boys, eye doctors, ophthalmologists, optometrists, opticians, vision tests, why am i color-blind

Metabolic genetic conditions 

Metabolic Genetic Conditions information and links to national and international support groups, clinics with genetic counselors and geneticists metabolic disease condition disorder genetic genomecounseling support galactosemia, PKU, maple syrup urine, neuro-metabolic, purine, lactic acidosis, pyruvate dehydrogenase deficiency, urea cycle conditions, carbohydrate deficient glycoprotein syndrome (CDGS), glutaric aciduria, G6PD favismfava beans mitochondrial, long chain 3 hydroxyacyl CoA dehydrogenase deficiency LCHADmannosidosis lysosomal storage disease, gaucher salla Niemann-Pick Tay-Sachs Fabry Farber Pompe Sandhoff Krabbe metachromatic leukodystrophy Wolman Hurler Hunter Sanfilippo I-cell Scheie cystinosis Goldberg salidosis maroteau-Lamy Hurler-Scheie Morquio pseudo-Hurler GM1 Aspartylglusomarinuria mucopolysaccharidosis Sly trimethylaminuria Fish odor syndromegene therapy support group genetics birth defect counselling inherited heredity familial geneticist clinic medical healthgene chromosome DNA genes lay advocacy organization

Listeria Infections 

Listeriosis, a serious infection caused by eating food contaminated with a bacterium, primarily affects pregnant women, newborns, and adults with weakened immune systems. You can avoid it by taking some simple precautions. fevers, difficulty breathing, blood-borne infections, vomiting, diarrhea, runny poop, lethargy, irritability, tiredness, fatigue, my child has listeriosis, my child has a listeria infection, pregnancy, leukemia, pregnant, listeria monocytogenes, weakened immune systems, corticosteroids, contaminated food, contaminated water, soft-ripened cheese, milk, undercooked chicken, uncooked hot dogs, shellfish, coleslaw, rectal carrier, vaginal carrier, foodborne illnesses, neonatal transmissions, not contagious, bacterial infections, hospitalizations, antibiotics, antibiotic treatments, medicines, medications

Facial/ craniofacial anomalies 

Craniofacial resources, clinics with genetic counselors and geneticists, links to national and international support groups craniofacial facial anomalies Apert Syndrome Chotzen Syndrome Pfeiffer Syndrome Carpenter Syndrome Crouzon Syndrome disfigurement craniofacial cleft clefting lip palate genetics genome counseling support anomaly group groups genetics genome birth defect counseling chromosome inherited heredity geneticist counselling clinic medicalgene chromosome DNA geneticist counselling genes genetic lay advocacy organization

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

Aicardi Syndrome 

Aicardi Syndrome Aicardi, Aicardi Syndrome, aicardi, aicardi syndrom, aicardi-syndrome, aicardis, aicardi s, ascardi, aicardia, acardi, acardia, acairdi, aicardisyndrome, seizures, infantile spasms, agenesis, agenisis, corpus colosum, corpus calosum, corpus callosum, corpus collosum, chorioretinal lacunae, chorio, retina, retinal, blindness, hydrocephalus, micropthalmia, x-linked chromosome mutation, mental retardation, microcephaly, porencephalic cysts, porencephalic

Spinal Cord Injury and Disease (SCI/D) Resources 

Spinal Cord Injury Information and Resources spinal cord injury, sci, handicap, accessibility, solutions, quadriplegic, paraplegic, tetraplegic, quadriplegia, tetraplegia, Paraplegia, Paralysis Links, Paralysis Research, Paralysis, wheelchair, research, rehab, treatment center, rehabilitation, spinal cord trauma, experimental spinal cord injury, pathogenesis of spinal cord injury, treatment of experimental spinal cord injury, neuropathology, experimental neurology, experimental neurosurgery, TBI, Traumatic Brain Injury, disabled, disability, help, resources, information

ACD/MPV - Genetics Home Reference 

alveolar capillary dysplasia with misalignment of pulmonary veins, Hypertension, Pulmonary, Lung Diseases, Respiratory Tract Diseases, alveolar capillary dysplasia with misalignment of pulmonary veins, Heart and circulation, Lungs and breathing, FOXF1, FOXF1 gene, ACD, ACDMPV, alveolar capillary dysplasia, congenital alveolar capillary dysplasia, familial persistent pulmonary hypertension of the newborn, misalignment of the pulmonary vessels, 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

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

Leukodystrophy 

Leukodystrophies are a group of very rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal develo Brain and nerves, Genes and chromosomes, Genetic conditions, disorders affecting metabolism, genetic condition, genetic counseling, genetic counselling, genetic disease, genetic disorder, hereditary disorder, inherited diseases, leukodystrophies, metabolic disorders, nervous system problem, nervous system problems, neurologic problem, neurological disorder, neurological problem

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

Aicardi Syndrome 

Aicardi Syndrome - This is a rare genetic condition characterised by: aicardi syndrome, genetic, genes, cleft lip, cleft lip and palate, malformation, retinal detachment, microphthalmia, short, growth retardation, hypotonia, rare, mental retardation, microcephaly, nystagmus, optic atrophy, precocious puberty, x linked dominant, facial asymmetry, inherited diseases

Aicardi Syndrome 

Aicardi syndrome is a rare disorder characterized by the agenesis of the corpus callosum, infantile spasms, mental retardation, and lacunae of the retina. brain, seizures, neurology, syndrome, retinal, mental, retina, neurologists, agenesis of the corpus callosum, agenesis, corpus, callosum, Aicardi syndrome, Aicardi, infantile spasms, infantile, spasms, childhood seizures, childhood, mental retardation, retardation, lacunae, retinal lacunae, Milwaukee, Wisconsin, MCW, Medical College of Wisconsin, health, physicians, clinics, doctors

AICARDI SYNDROME: Contact a Family - for families with disabled children: information 

Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. medical conditions information, chromosomes disorders, medical symptoms, a list of inherited diseases, medical dictionary, pregnancy, medical info, health, parent, medical information, human genetics, rare diseases, kids, metabolic syndrome, information about medical conditions, children physical disabilities, medical diagnosis, special education inclusion, grants for disabled children, health information, statement of special educational needs uk, inherited genetic diseases, disabled children, children with disabilities, disabled, children, medical condition, medical, medicine, disable, disability, illness, life-threatening, paediatric, pediatric, birth, parents, child, sibling, caring, carer, care, support, self-help, therapy, Contact a Family Directory, CaF, contact, family, families, unique, special needs, Special Educational Needs, SEN, inclusion, diagnosis, undiagnosed, diagnose, hospital, hospice, doctor, patient, condition, genetic condition, genes, genetic, defect, inherited, inheritance, hereditary, autosomal, dominant, recessive, x-linked, mitochondrial, metabolic condition, metabolic, chromosome disorder, chromosome, disorder, linking, support groups, development, mutual support, network, welfare, trust, foundation, not-for-profit, voluntary sector, donation, donate, fund, respite care, respite, mental, physical, handicap, handicapped, help, advice, City Road, London, physical disabilities

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