Elephantiasis 

Elephantiasis is a condition characterized by gross enlargement of an area of the body, especially the limbs. Other areas commonly affected include the external genitals. Elephantiasis is caused by obstruction of the lymphatic system, which results i Blood and lymph, Idiopathic Elephantiasis, Doxycycline, filariasis, lymphatic filariasis, lymphatic system, parasitic illnesses

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

Alveolar Capillary Dysplasia 

Alveolar Capillary Dysplasia alveolar capillary dysplasia, congenital disease, congenital disorder, lung diseases, lung problems, pulmonary disorder, pulmonary problems, ACD

Disease Information from NORD, National Organization for Rare Disorders, Inc. 

National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. rare, disease, disorder, syndrome, diseases, orphan, drugs, rare disorders, rare diseases, orphan diseases

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

NORD Guide to Rare Disorders - Google Book Search 

Disease Information from NORD, National Organization for Rare Disorders, Inc. 

National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. rare, disease, disorder, syndrome, diseases, orphan, drugs, rare disorders, rare diseases, orphan diseases

Disease Information from NORD, National Organization for Rare Disorders, Inc. 

National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. rare, disease, disorder, syndrome, diseases, orphan, drugs, rare disorders, rare diseases, orphan diseases

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

Disease Information from NORD, National Organization for Rare Disorders, Inc. 

National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. rare, disease, disorder, syndrome, diseases, orphan, drugs, rare disorders, rare diseases, orphan diseases

Disease Information from NORD, National Organization for Rare Disorders, Inc. 

National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. rare, disease, disorder, syndrome, diseases, orphan, drugs, rare disorders, rare diseases, orphan diseases

Disease Information from NORD, National Organization for Rare Disorders, Inc. 

National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. rare, disease, disorder, syndrome, diseases, orphan, drugs, rare disorders, rare diseases, orphan diseases

NORD Guide to Rare Disorders - Google Book Search 

Disease Information from NORD, National Organization for Rare Disorders, Inc. 

National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. rare, disease, disorder, syndrome, diseases, orphan, drugs, rare disorders, rare diseases, orphan diseases

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

Disease Information from NORD, National Organization for Rare Disorders, Inc. 

National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. rare, disease, disorder, syndrome, diseases, orphan, drugs, rare disorders, rare diseases, orphan diseases

Disease Information from NORD, National Organization for Rare Disorders, Inc. 

National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. rare, disease, disorder, syndrome, diseases, orphan, drugs, rare disorders, rare diseases, orphan diseases

NORD Guide to Rare Disorders - Google Book Search 

Progeria.ca - Home 

Progeria.ca: Information and community site." Progeria Research, Hutchinson-Gilford progeria syndrome, Hutchinson-Gilford, Hutchinson Gilford progeria sydrome, premature aging, rapid aging, genetic disease, genetic diseases, disease, childhood disease, rare childood disease, rare childood diseases, hyaluronic acid, Werner Syndrome, rare disease, rare diseases, rare genetic disease, rare genetic diseases, dwarfism, foundation, atherosclerosis, congestive heart failure, Sunshine Foundation, prematurely old, hereditary disease, cardiovascular, old child, NORD, National Progeria Registry, Progeria Registry, National Organization for Rare Disorders, disorder, rare progressive disorder, progressive disorder, Ted Brown, Hastings Gilford, Johnathan Hutchinson, Jervis Clinic"

Disease Information from NORD, National Organization for Rare Disorders, Inc. 

National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. rare, disease, disorder, syndrome, diseases, orphan, drugs, rare disorders, rare diseases, orphan diseases

The Progeria Research Foundation 

Progeria Research Foundation conducts the support of Medical Research, Promotion of Education and Awarness, and Fundraising" Progeria, Progeria Research Foundation, progeria research, Hutchinson-Gilford progeria syndrome, Hutchinson-Gilford, Hutchinson Gilford progeria sydrome, premature aging, rapid aging, genetic disease, genetic diseases, children, disease, childhood disease, childhood, diseases, rare childood disease, rare childood diseases, hyaluronic acid, Werner Syndrome, rare disease, rare diseases, rare genetic disease, rare genetic diseases, dwarfism, foundation, atherosclerosis, congestive heart failure, Sunshine Foundation, prematurely old, hereditary disease, cardiovascular, old age, NORD, National Progeria Registry, Progeria Registry, National Organization for Rare Disorders, disorder, rare progressive disorder, progressive disorder, Ted Brown, Hastings Gilford, Johnathan Hutchinson, Jervis Clinic, non-profit foundation, non-profit organization, charity, charitable donation, donation"

NORD Guide to Rare Disorders - Google Book Search 

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

Hypophosphatasia 

Hypophosphatasia is a inborn metabolic disorder of the bones characterized by skeletal defects resembling those of rickets. The symptoms result from a failure of bone mineral to be deposited in young, uncalcified bone (osteoid), and in the cartilage Bones, joints, and muscles, Genetic conditions, Infant and toddler health, HHRH, Hypercalciuric Rickets, Hypophosphatemic Rickets with Hypercalcemia

Disease Information from NORD, National Organization for Rare Disorders, Inc. 

National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. rare, disease, disorder, syndrome, diseases, orphan, drugs, rare disorders, rare diseases, orphan diseases

Disease Information from NORD, National Organization for Rare Disorders, Inc. 

National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. rare, disease, disorder, syndrome, diseases, orphan, drugs, rare disorders, rare diseases, orphan diseases