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

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

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

Blue Rubber Bleb Nevus Syndrome 

Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel (vascular) disorder that affects the skin and internal organs of the body. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth or Blood and lymph, Genetic conditions, Bean Syndrome, Birth Defect, birth defects, blood vessel disease, blue rubber bleb nevus, BRBNS, congenital anomaly, congenital defect, genetic condition, genetic counseling, genetic counselling, genetic defect, genetic disease, genetic disorder, hereditary disorder, inherited diseases, vascular disorder

Blue Rubber Bleb Nevus Syndrome 

Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel (vascular) disorder that affects the skin and internal organs of the body. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth or Blood and lymph, Genetic conditions, Bean Syndrome, Birth Defect, birth defects, blood vessel disease, blue rubber bleb nevus, BRBNS, congenital anomaly, congenital defect, genetic condition, genetic counseling, genetic counselling, genetic defect, genetic disease, genetic disorder, hereditary disorder, inherited diseases, vascular disorder

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

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: 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

UREA CYCLE DISORDERS: Contact a Family - for families with disabled children: informa 

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

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

WAARDENBURG SYNDROME : Contact a Family - for families with disabled children: inform 

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

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

UREA CYCLE DISORDERS: Contact a Family - for families with disabled children: informa 

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

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

SMITH-MAGENIS SYNDROME : Contact a Family - for families with disabled children: info 

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

SHWACHMAN-DIAMOND SYNDROME : Contact a Family - for families with disabled children: 

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

RUBINSTEIN TAYBI SYNDROME : Contact a Family - for families with disabled children: i 

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

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

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

Retinoblastoma - Genetics Home Reference 

retinoblastoma, Neoplasms, Neuroepithelial, Neuroectodermal Tumors, Neoplasms, Germ Cell and Embryonal, Neoplasms by Histologic Type, Neoplasms, Neoplasms, Glandular and Epithelial, Neoplasms, Nerve Tissue, Retinal Neoplasms, Eye Neoplasms, Neoplasms by Site, Eye Diseases, Retinal Diseases, Retinoblastoma, Cancers, Eyes and vision, RB1, RB1 gene, Glioblastoma retinal, Glioma retinal, Neuroblastoma retinal, RB, 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

PROTEUS 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

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

Trichorhinophalangeal Syndrome Type II 

Trichorhinophalangeal syndrome type II (TRPS2), also known as Langer-Giedion syndrome, is an extremely rare inherited multisystem disorder. TRPS2 is characterized by fine, thin hair; unusual facial features; progressive growth retardation resulting i Bones, joints, and muscles, Genes and chromosomes, Genetic conditions, Skin, hair, and nails, Langer Giedion Syndrome, TRPS2, dwarf, dwarfism, genetic condition, genetic counseling, genetic counselling, genetic disease, genetic disorder, hereditary disorder, inherited diseases, Langer-Giedion syndrome, little person, multi-system disorder, multisystem disorder, person of short stature, problemas de la piel, skeletal dysplasia, Skin conditions, skin disorder, skin problem, trichorhinophalangeal syndrome, TRPS

LANGER-GIEDION SYNDROME: Contact a Family - for families with disabled children: info 

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

Fibrodysplasia Ossificans Progressiva (FOP) 

Fibrodysplasia ossificans progressiva (FOP) is a very rare inherited connective tissue disorder characterized by the abnormal development of bone in areas of the body where bone is not normally present (heterotopic ossification), such as the ligament Bones, joints, and muscles, Genes and chromosomes, Genetic conditions, FOP, Myositis Ossificans Progressiva, connective tissue disorder, fibrodysplasia ossificans progressiva, genetic condition, genetic counseling, genetic counselling, genetic disease, genetic disorder, hereditary disorder, inherited diseases, musculoskeletal disorder

Fibrodysplasia ossificans progressiva - Genetics Home Reference 

fibrodysplasia ossificans progressiva, Myositis, Muscular Diseases, Musculoskeletal Diseases, Myositis Ossificans, Bones, muscles, and connective tissues, ankylosis, extraskeletal ossification, heterotopic ossification, ACVR1, ACVR1 gene, Myositis Ossificans, Myositis ossificans progressiva, Progressive myositis ossificans, progressive ossifying myositis, 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, family diseases, inborn disorders

ECTODERMAL DYSPLASIA: Contact a Family - for families with disabled children: informa 

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

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

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

Barth Syndrome 

Barth syndrome is a rare, metabolic, and neuromuscular, genetic disorder that occurs exclusively in males, since it is passed from mother to son through the X chromosome. Although Barth syndrome typically becomes apparent during infancy or early chil Blood and lymph, Bones, joints, and muscles, Genes and chromosomes, Genetic conditions, Heart problems, Infant and toddler health, 3-Methylglutaconic Aciduria, Type II (MGA, Type II), Cardioskeletal Myopathy With Neutropenia and Abnormal Mitochondria, Cardioskeletal Myopathy, Barth Type, Endocardial Fibroelastosis, Type 2 (EFE2), X-Linked Cardioskeletal Myopathy and Neutropenia, cardiac disease, cardiac disorder, enfermedad del corazón, enfermedades del corazón, familial lipid disorders, genetic condition, genetic counseling, genetic counselling, genetic disease, genetic disorder, Heart disease, heart problems, hereditary disorder, inherited diseases, problema del corazón, problemas del corazón

Alpha-1 antitrypsin deficiency - Genetics Home Reference 

alpha-1 antitrypsin deficiency, Connective Tissue Diseases, Skin and Connective Tissue Diseases, alpha 1-Antitrypsin Deficiency, Digestive system, Lungs and breathing, Skin, hair, and nails, chronic obstructive pulmonary disease, COPD, serpinopathy, SERPINA1, SERPINA1 gene, AAT, AATD, alpha-1 proteinase inhibitor, 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, gene testing, genome, hereditary family history, future of medicine, Disease and Gene Association, congenital, heritable disorders, inherited disorders, heritable diseases, inherited diseases

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